PanelApp (stage)

Activity

Filter

Cancel
Date Panel Item Activity
852 actions
Renal Ciliopathies and Nephronophthisis v1.22 DLG5 Zornitza Stark Marked gene: DLG5 as ready
Renal Ciliopathies and Nephronophthisis v1.22 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v1.22 DLG5 Zornitza Stark Classified gene: DLG5 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v1.22 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v1.21 DLG5 Zornitza Stark gene: DLG5 was added
gene: DLG5 was added to Renal Ciliopathies and Nephronophthisis. Sources: Expert Review
Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816
Phenotypes for gene: DLG5 were set to Yuksel-Vogel-Bauer syndrome, MIM#620703
Review for gene: DLG5 was set to GREEN
Added comment: Four unrelated families reported, supportive Xenopus animal model data. Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations.
Sources: Expert Review
Renal Ciliopathies and Nephronophthisis v1.20 IFT74 Krithika Murali Classified gene: IFT74 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v1.20 IFT74 Krithika Murali Gene: ift74 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v1.19 IFT74 Naomi Baker reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37315079; Phenotypes: Jeune syndrome (MONDO:0018770), IFT74-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v1.19 Zornitza Stark HPO terms changed from Abnormality of renal medullary morphology, HP:0025361 to Abnormality of renal medullary morphology, HP:0025361; Renal cyst, HP:0000107
List of related panels changed from Abnormality of renal medullary morphology; HP:0025361 to Abnormality of renal medullary morphology; HP:0025361; Renal cyst; HP:0000107
Renal Ciliopathies and Nephronophthisis v1.18 Zornitza Stark HPO terms changed from to Abnormality of renal medullary morphology, HP:0025361
List of related panels changed from to Abnormality of renal medullary morphology; HP:0025361
Renal Ciliopathies and Nephronophthisis v1.17 ADAMTS9 Zornitza Stark Phenotypes for gene: ADAMTS9 were changed from Nephronophthisis-Related Ciliopathy to Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related
Renal Ciliopathies and Nephronophthisis v1.16 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to 25557784; 31821705; 27469900
Renal Ciliopathies and Nephronophthisis v1.16 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to 25557784; 31821705
Renal Ciliopathies and Nephronophthisis v1.15 ADAMTS9 Chirag Patel Classified gene: ADAMTS9 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v1.15 ADAMTS9 Chirag Patel Gene: adamts9 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v1.14 ADAMTS9 Chirag Patel reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v1.14 DCDC2 Chirag Patel Classified gene: DCDC2 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v1.14 DCDC2 Chirag Patel Gene: dcdc2 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v1.13 DCDC2 Chirag Patel reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27469900, 25557784, 31821705; Phenotypes: Nephronophthisis 19, MIM# 616217, Sclerosing cholangitis, neonatal, MIM# 617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v1.13 PDIA6 Chirag Patel edited their review of gene: PDIA6: Added comment: 2nd patient with large polycystic kidneys, death and end stage renal failure at 18 months, microcephaly, bilateral inguinal hernias, umbilical hernia, developmental delay, bilateral sensorineural hearing loss, visual impairment, steatorrhea, fibrotic changes in liver, and insulin-dependent diabetes. WGS found homozygous stop-gain variant (Tyr368*) in PDIA6. Segregation not performed.; Changed rating: AMBER; Changed publications: PMID: 35856135; Changed phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly
Renal Ciliopathies and Nephronophthisis v1.13 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174 to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174; Familial renal cystic disease MONDO:0019741, NEK8-related, dominant
Renal Ciliopathies and Nephronophthisis v1.12 NEK8 Zornitza Stark Mode of inheritance for gene: NEK8 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v1.11 NEK8 Chirag Patel reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: Unpublished ESHG presentation; Phenotypes: Renal cystic disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v1.11 TULP3 Zornitza Stark Phenotypes for gene: TULP3 were changed from progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045 to Hepatorenocardiac degenerative fibrosis, MIM# 619902
Renal Ciliopathies and Nephronophthisis v1.10 TULP3 Zornitza Stark reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatorenocardiac degenerative fibrosis, MIM# 619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v1.10 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome to Meckel syndrome 14, MIM# 619879
Renal Ciliopathies and Nephronophthisis v1.9 TXNDC15 Zornitza Stark edited their review of gene: TXNDC15: Changed phenotypes: Meckel syndrome 14, MIM# 619879
Renal Ciliopathies and Nephronophthisis v1.9 TULP3 Zornitza Stark Marked gene: TULP3 as ready
Renal Ciliopathies and Nephronophthisis v1.9 TULP3 Zornitza Stark Gene: tulp3 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v1.9 TULP3 Zornitza Stark Classified gene: TULP3 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v1.9 TULP3 Zornitza Stark Gene: tulp3 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v1.8 TULP3 Anna Ritchie Deleted their comment
Renal Ciliopathies and Nephronophthisis v1.8 TULP3 Anna Ritchie edited their review of gene: TULP3: Added comment: 15 individuals from eight unrelated families with bi-allelic variants in TULP3 were detected. The affected individuals reported are mostly adults, in the 3rd through 7th decades of life, and presented with progressive degenerative liver fibrosis with variable fibrocystic kidney disease and hypertrophic cardiomyopathy.

The human phenotype was ecapitulated in adult zebrafish and confirmed disruption of critical ciliary cargo composition in several primary cell lines derived from affected individuals.; Changed rating: GREEN
Renal Ciliopathies and Nephronophthisis v1.8 TULP3 Anna Ritchie gene: TULP3 was added
gene: TULP3 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature
Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TULP3 were set to PMID: 35397207
Phenotypes for gene: TULP3 were set to progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045
Added comment: 15 individuals from eight unrelated families with bi-allelic variants in TULP3 were detected. The affected individuals reported are mostly adults, in the 3rd through 7th decades of life, and presented with progressive degenerative liver fibrosis with variable fibrocystic kidney disease and hypertrophic cardiomyopathy.

The human phenotype was ecapitulated in adult zebrafish and confirmed disruption of critical ciliary cargo composition in several primary cell lines derived from affected individuals
Sources: Literature
Sources: Literature
Renal Ciliopathies and Nephronophthisis v1.8 CYS1 Zornitza Stark Marked gene: CYS1 as ready
Renal Ciliopathies and Nephronophthisis v1.8 CYS1 Zornitza Stark Gene: cys1 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v1.8 CYS1 Zornitza Stark Classified gene: CYS1 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v1.8 CYS1 Zornitza Stark Gene: cys1 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v1.7 CYS1 Zornitza Stark gene: CYS1 was added
gene: CYS1 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature
Mode of inheritance for gene: CYS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYS1 were set to 34521872
Phenotypes for gene: CYS1 were set to Polycystic kidney disease, MONDO:0020642
Review for gene: CYS1 was set to AMBER
Added comment: Single family reported. However, extensive experimental data, including mouse model.
Sources: Literature
Renal Ciliopathies and Nephronophthisis v1.6 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Cystic Kidney Disease, MONDO# 0002473, IFT140-related, dominant
Renal Ciliopathies and Nephronophthisis v1.5 IFT140 Zornitza Stark Publications for gene: IFT140 were set to 22503633; 23418020
Renal Ciliopathies and Nephronophthisis v1.4 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v1.3 IFT140 Zornitza Stark Deleted their comment
Renal Ciliopathies and Nephronophthisis v1.3 IFT140 Zornitza Stark changed review comment from: PMID 34890546: Monoallelic variants described in 12 unrelated families with mild PKD associated with mild PKD with large cysts, limited kidney insufficiency, and few liver cysts. Bilallelic variants associated with Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, where renal cysts are a feature.; to: PMID 34890546: Monoallelic variants described in 12 unrelated families with mild PKD associated with mild PKD with large cysts, limited kidney insufficiency, and few liver cysts. Bilallelic variants associated with Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, where renal cysts are a feature, with early progressive renal disease.
Renal Ciliopathies and Nephronophthisis v1.3 IFT140 Zornitza Stark edited their review of gene: IFT140: Added comment: PMID 34890546: Monoallelic variants described in 12 unrelated families with mild PKD associated with mild PKD with large cysts, limited kidney insufficiency, and few liver cysts. Bilallelic variants associated with Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, where renal cysts are a feature.; Changed publications: 22503633, 23418020, 34890546; Changed phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, MONDO:0009964, Cystic Kidney Disease, MONDO# 0002473, IFT140-related, dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v1.3 FAN1 Zornitza Stark Phenotypes for gene: FAN1 were changed from Interstitial nephritis, karyomegalic to Interstitial nephritis, karyomegalic, MIM# 614817
Renal Ciliopathies and Nephronophthisis v1.2 FAN1 Zornitza Stark commented on gene: FAN1: Karyomegalic tubulointerstitial nephritis (KMIN) is a rare kidney disease characterized clinically by onset in the third decade of progressive renal failure. Renal biopsy shows chronic tubulointerstitial nephritis and interstitial fibrosis associated with enlarged and atypical tubular epithelial cell nuclei
Renal Ciliopathies and Nephronophthisis v1.2 FAN1 Zornitza Stark reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Interstitial nephritis, karyomegalic, MIM# 614817; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v1.2 SLC41A1 Zornitza Stark Phenotypes for gene: SLC41A1 were changed from Nephronophthisis; no OMIM number to Nephronophthisis-like nephropathy 2, MIM# 619468
Renal Ciliopathies and Nephronophthisis v1.1 SLC41A1 Zornitza Stark reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis-like nephropathy 2, MIM# 619468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v1.1 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from Bardet-Biedl syndrome; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 to Bardet-Biedl syndrome 20, MIM# 619471; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Renal Ciliopathies and Nephronophthisis v1.0 IFT172 Zornitza Stark changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is also associated with skeletal ciliopathy, with nephronophthisis reported.; to: Three families reported with a BBS phenotype. Gene is also associated with skeletal ciliopathy, with nephronophthisis reported.
Renal Ciliopathies and Nephronophthisis v1.0 IFT172 Zornitza Stark edited their review of gene: IFT172: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 619471, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Renal Ciliopathies and Nephronophthisis v1.0 Zornitza Stark promoted panel to version 1.0
Renal Ciliopathies and Nephronophthisis v0.322 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Renal Ciliopathies and Nephronophthisis v0.322 IFT74 Zornitza Stark Added comment: Comment when marking as ready: No renal involvement in the individuals reported with the Joubert phenotype.
Renal Ciliopathies and Nephronophthisis v0.322 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.322 C2CD3 Zornitza Stark edited their review of gene: C2CD3: Changed rating: AMBER
Renal Ciliopathies and Nephronophthisis v0.322 EVC Zornitza Stark changed review comment from: Primarily a skeletal ciliopathy, short ribs and narrow chest are a feature.; to: Primarily a skeletal ciliopathy, short ribs and narrow chest are a feature. Renal abnormalities not prominent.
Renal Ciliopathies and Nephronophthisis v0.322 EVC Zornitza Stark edited their review of gene: EVC: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.322 SCLT1 Zornitza Stark Phenotypes for gene: SCLT1 were changed from Orofaciodigital syndrome type IX; Senior-Loken syndrome to Senior-Loken syndrome; Bardet-Biedl syndrome
Renal Ciliopathies and Nephronophthisis v0.321 SCLT1 Zornitza Stark Classified gene: SCLT1 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.321 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.320 SCLT1 Zornitza Stark changed review comment from: Reports of individual patients with overlapping features suggestive of ciliopathy, mouse model recapitulates phenotype.
Sources: Expert list; to: Reports of individual patients with overlapping features suggestive of ciliopathy, mouse model recapitulates phenotype. Two individuals with BBS and one with Senior-Loken, with renal involvement.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.320 SCLT1 Zornitza Stark edited their review of gene: SCLT1: Changed phenotypes: Orofaciodigital syndrome type IX, Senior-Loken syndrome, Bardet-Biedl syndrome
Renal Ciliopathies and Nephronophthisis v0.320 WDR34 Zornitza Stark changed review comment from: At least 5 families reported with a skeletal ciliopathy, supportive mouse model and other functional data.; to: At least 5 families reported with a skeletal ciliopathy, supportive mouse model and other functional data; however, no renal involvement.
Renal Ciliopathies and Nephronophthisis v0.320 WDR34 Zornitza Stark edited their review of gene: WDR34: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.320 WDR60 Zornitza Stark Marked gene: WDR60 as ready
Renal Ciliopathies and Nephronophthisis v0.320 WDR60 Zornitza Stark Gene: wdr60 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.320 WDR60 Zornitza Stark Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503
Renal Ciliopathies and Nephronophthisis v0.319 WDR60 Zornitza Stark Publications for gene: WDR60 were set to
Renal Ciliopathies and Nephronophthisis v0.318 WDR60 Zornitza Stark Mode of inheritance for gene: WDR60 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.317 WDR60 Zornitza Stark changed review comment from: Four unrelated families reported, three with skeletal ciliopathy and one with RP and polydactyly only.; to: Four unrelated families reported, including renal involvement, although features are predominantly skeletal.
Renal Ciliopathies and Nephronophthisis v0.317 WDR60 Zornitza Stark edited their review of gene: WDR60: Changed phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503
Renal Ciliopathies and Nephronophthisis v0.317 WDR35 Zornitza Stark Marked gene: WDR35 as ready
Renal Ciliopathies and Nephronophthisis v0.317 WDR35 Zornitza Stark Gene: wdr35 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.317 WDR35 Zornitza Stark Phenotypes for gene: WDR35 were changed from to Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569; Cranioectodermal dysplasia 2, MIM# 613610
Renal Ciliopathies and Nephronophthisis v0.316 WDR35 Zornitza Stark Publications for gene: WDR35 were set to
Renal Ciliopathies and Nephronophthisis v0.315 WDR35 Zornitza Stark Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.314 WDR35 Zornitza Stark changed review comment from: Well established gene-disease association. Bi-allelic variants in this gene also cause cranioectodermal dysplasia.; to: Well established gene-disease associations, renal involvement reported in both.
Renal Ciliopathies and Nephronophthisis v0.314 WDR35 Zornitza Stark edited their review of gene: WDR35: Changed phenotypes: Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091, MONDO:0013569, Cranioectodermal dysplasia 2, MIM# 613610
Renal Ciliopathies and Nephronophthisis v0.314 WDR19 Zornitza Stark Phenotypes for gene: WDR19 were changed from Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378 to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307
Renal Ciliopathies and Nephronophthisis v0.313 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Renal Ciliopathies and Nephronophthisis v0.313 WDR19 Zornitza Stark Gene: wdr19 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.313 WDR19 Zornitza Stark Phenotypes for gene: WDR19 were changed from to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378
Renal Ciliopathies and Nephronophthisis v0.312 WDR19 Zornitza Stark Publications for gene: WDR19 were set to
Renal Ciliopathies and Nephronophthisis v0.311 WDR19 Zornitza Stark Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.310 WDR19 Zornitza Stark changed review comment from: Variants in this gene are associated with a range of ciliopathies. Two families reported with a predominantly skeletal phenotype.; to: Variants in this gene are associated with a range of ciliopathies, including nephronophthisis and Senior-Loken syndrome.
Renal Ciliopathies and Nephronophthisis v0.310 WDR19 Zornitza Stark edited their review of gene: WDR19: Changed rating: GREEN
Renal Ciliopathies and Nephronophthisis v0.310 WDR19 Zornitza Stark edited their review of gene: WDR19: Changed publications: 22019273, 23559409, 23683095; Changed phenotypes: Nephronophthisis 13, MIM# 614377, Senior-Loken syndrome 8, MIM# 616307
Renal Ciliopathies and Nephronophthisis v0.310 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Renal Ciliopathies and Nephronophthisis v0.310 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.310 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from to Bardet-Biedl syndrome 8, MIM# 615985
Renal Ciliopathies and Nephronophthisis v0.309 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Renal Ciliopathies and Nephronophthisis v0.308 TTC8 Zornitza Stark Mode of inheritance for gene: TTC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.307 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Renal Ciliopathies and Nephronophthisis v0.307 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.307 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819
Renal Ciliopathies and Nephronophthisis v0.306 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Renal Ciliopathies and Nephronophthisis v0.305 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.304 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258341; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.304 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Renal Ciliopathies and Nephronophthisis v0.304 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.304 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from to Nephronophthisis 11, MIM# 613550; Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361
Renal Ciliopathies and Nephronophthisis v0.303 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Renal Ciliopathies and Nephronophthisis v0.302 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.301 TMEM67 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome. Multiple families with each.; to: Bi-allelic variants in this gene are associated with a range of ciliopathies, including Nerphronophtisis, JBTS and Meckel syndrome. Multiple families with each.
Renal Ciliopathies and Nephronophthisis v0.301 TMEM67 Zornitza Stark edited their review of gene: TMEM67: Changed phenotypes: Nephronophthisis 11, MIM# 613550, Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361
Renal Ciliopathies and Nephronophthisis v0.301 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Renal Ciliopathies and Nephronophthisis v0.301 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.301 TMEM231 Zornitza Stark Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164
Renal Ciliopathies and Nephronophthisis v0.300 TMEM231 Zornitza Stark Publications for gene: TMEM231 were set to
Renal Ciliopathies and Nephronophthisis v0.299 TMEM231 Zornitza Stark Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.298 TMEM231 Zornitza Stark changed review comment from: More than 3 unrelated families reported with each phenotype, functional data.; to: More than 3 unrelated families reported with each phenotype, functional data. Renal involvement common in Meckel.
Renal Ciliopathies and Nephronophthisis v0.298 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Renal Ciliopathies and Nephronophthisis v0.298 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.298 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091; Meckel syndrome 2, MIM# 603194
Renal Ciliopathies and Nephronophthisis v0.297 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Renal Ciliopathies and Nephronophthisis v0.296 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.295 TMEM216 Zornitza Stark changed review comment from: p.Arg73Leu is a founder Jewish variant.

Multiple families reported with JBTS and with Meckel syndrome.; to: p.Arg73Leu is a founder Jewish variant.

Multiple families reported with JBTS and with Meckel syndrome. Renal involvement common in Meckel.
Renal Ciliopathies and Nephronophthisis v0.295 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Renal Ciliopathies and Nephronophthisis v0.295 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.295 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from to Joubert syndrome 16, MIM# 614465; MONDO:0013764
Renal Ciliopathies and Nephronophthisis v0.294 TMEM138 Zornitza Stark Publications for gene: TMEM138 were set to
Renal Ciliopathies and Nephronophthisis v0.293 TMEM138 Zornitza Stark Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.292 TMEM138 Zornitza Stark changed review comment from: At least 5 unrelated families reported.; to: At least 5 unrelated families reported. Renal cysts/nephrnophthisis reported.
Renal Ciliopathies and Nephronophthisis v0.292 TMEM107 Zornitza Stark Marked gene: TMEM107 as ready
Renal Ciliopathies and Nephronophthisis v0.292 TMEM107 Zornitza Stark Gene: tmem107 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.292 TMEM107 Zornitza Stark Phenotypes for gene: TMEM107 were changed from to Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563)
Renal Ciliopathies and Nephronophthisis v0.291 TMEM107 Zornitza Stark Publications for gene: TMEM107 were set to
Renal Ciliopathies and Nephronophthisis v0.290 TMEM107 Zornitza Stark Mode of inheritance for gene: TMEM107 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.289 TMEM107 Zornitza Stark Classified gene: TMEM107 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.289 TMEM107 Zornitza Stark Gene: tmem107 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.288 TMEM107 Zornitza Stark commented on gene: TMEM107: Renal phenotype observed in MKS.
Renal Ciliopathies and Nephronophthisis v0.288 TMEM107 Zornitza Stark reviewed gene: TMEM107: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.288 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Renal Ciliopathies and Nephronophthisis v0.288 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.288 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Mohr-Majewski syndrome; Meckel-Gruber syndrome
Renal Ciliopathies and Nephronophthisis v0.287 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Renal Ciliopathies and Nephronophthisis v0.286 TCTN3 Zornitza Stark Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.285 TCTN3 Zornitza Stark changed review comment from: Three unrelated families reported with JBTS phenotype. Variants in this gene are associated with other ciliopathies as well (OFD and Mohr-Majewski).; to: Variants in this gene are associated with a range of ciliopathies, but renal involvement reported in Mohr-Majewski and Meckel-Gruber presentations.
Renal Ciliopathies and Nephronophthisis v0.285 TCTN3 Zornitza Stark edited their review of gene: TCTN3: Changed publications: 22883145, 32139166, 25118024, 22883145, 34096792; Changed phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Mohr-Majewski syndrome, Meckel-Gruber syndrome
Renal Ciliopathies and Nephronophthisis v0.285 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Renal Ciliopathies and Nephronophthisis v0.285 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.285 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482
Renal Ciliopathies and Nephronophthisis v0.284 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Renal Ciliopathies and Nephronophthisis v0.283 TCTN2 Zornitza Stark Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.282 TCTN2 Zornitza Stark changed review comment from: At least 5 families reported with JBTS phenotype, and 3 with Meckel phenotype; mouse model.; to: At least 5 families reported with JBTS phenotype, and 3 with Meckel phenotype; mouse model. Renal abnormalities are part of the Meckel phenotype.
Renal Ciliopathies and Nephronophthisis v0.282 TCTN1 Zornitza Stark Marked gene: TCTN1 as ready
Renal Ciliopathies and Nephronophthisis v0.282 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.282 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from to Joubert syndrome 13, MIM# 614173
Renal Ciliopathies and Nephronophthisis v0.281 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to
Renal Ciliopathies and Nephronophthisis v0.280 TCTN1 Zornitza Stark Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.279 TCTN1 Zornitza Stark Classified gene: TCTN1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.279 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.278 TCTN1 Zornitza Stark changed review comment from: At least 4 unrelated families reported, mouse model.; to: At least 4 unrelated families reported with JBTS, mouse model. Renal involvement not reported.
Renal Ciliopathies and Nephronophthisis v0.278 TCTN1 Zornitza Stark edited their review of gene: TCTN1: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.278 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Renal Ciliopathies and Nephronophthisis v0.278 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.278 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis
Renal Ciliopathies and Nephronophthisis v0.277 RPGRIP1L Zornitza Stark Publications for gene: RPGRIP1L were set to
Renal Ciliopathies and Nephronophthisis v0.276 RPGRIP1L Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.276 RPGRIP1L Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.274 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Renal Ciliopathies and Nephronophthisis v0.274 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.274 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Orofaciodigital syndrome I, MIM# 311200; Joubert syndrome 10, MIM# 300804
Renal Ciliopathies and Nephronophthisis v0.273 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Renal Ciliopathies and Nephronophthisis v0.272 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Renal Ciliopathies and Nephronophthisis v0.271 OFD1 Zornitza Stark changed review comment from: XLD. Polydactyly is a rare feature. Primarily facial/neurological features.; to: Gene is associated with multiple ciliopathy phenotypes but renal involvement reported with JBTS/OFD.
Renal Ciliopathies and Nephronophthisis v0.271 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed publications: 19800048, 22353940
Renal Ciliopathies and Nephronophthisis v0.271 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed rating: GREEN; Changed phenotypes: Orofaciodigital syndrome I, MIM# 311200, Joubert syndrome 10, MIM# 300804; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Renal Ciliopathies and Nephronophthisis v0.271 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Renal Ciliopathies and Nephronophthisis v0.271 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.271 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996
Renal Ciliopathies and Nephronophthisis v0.270 NPHP4 Zornitza Stark Publications for gene: NPHP4 were set to
Renal Ciliopathies and Nephronophthisis v0.269 NPHP4 Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.268 NPHP4 Zornitza Stark reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12244321, 12205563, 34013113; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.268 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Renal Ciliopathies and Nephronophthisis v0.268 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.268 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from to Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441; Meckel syndrome 1, MIM# 249000
Renal Ciliopathies and Nephronophthisis v0.267 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Renal Ciliopathies and Nephronophthisis v0.266 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.265 MKS1 Zornitza Stark changed review comment from: Well established ciliopathy gene, two families reported with BBS phenotype.; to: Well established ciliopathy gene, two families reported with BBS phenotype and renal cysts are a prominent feature of Meckel syndrome.
Renal Ciliopathies and Nephronophthisis v0.265 MKS1 Zornitza Stark edited their review of gene: MKS1: Changed publications: 18327255, 24608809, 17377820; Changed phenotypes: Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441, Meckel syndrome 1, MIM# 249000
Renal Ciliopathies and Nephronophthisis v0.265 MKKS Zornitza Stark Marked gene: MKKS as ready
Renal Ciliopathies and Nephronophthisis v0.265 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.265 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700
Renal Ciliopathies and Nephronophthisis v0.264 MKKS Zornitza Stark Publications for gene: MKKS were set to
Renal Ciliopathies and Nephronophthisis v0.263 MKKS Zornitza Stark Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.262 MKKS Zornitza Stark reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802661; Phenotypes: McKusick-Kaufman syndrome, MIM# 236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.262 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Renal Ciliopathies and Nephronophthisis v0.262 KIF7 Zornitza Stark Gene: kif7 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.262 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from to Acrocallosal syndrome, MIM# 200990; Joubert syndrome 12, MIM# 200990
Renal Ciliopathies and Nephronophthisis v0.261 KIF7 Zornitza Stark Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.260 KIF7 Zornitza Stark Classified gene: KIF7 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.260 KIF7 Zornitza Stark Gene: kif7 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.259 KIF7 Zornitza Stark changed review comment from: Polydactyly is a feature of acrocallosal syndrome, but overall predominantly neurological presentation.; to: Overall predominantly neurological presentation.
Renal Ciliopathies and Nephronophthisis v0.259 KIF7 Zornitza Stark edited their review of gene: KIF7: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.259 KIAA0753 Zornitza Stark Marked gene: KIAA0753 as ready
Renal Ciliopathies and Nephronophthisis v0.259 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.259 KIAA0753 Zornitza Stark Phenotypes for gene: KIAA0753 were changed from to Short-rib skeletal dysplasia; Orofaciodigital syndrome XV, MIM# 617127; Jeune ATD
Renal Ciliopathies and Nephronophthisis v0.258 KIAA0753 Zornitza Stark Publications for gene: KIAA0753 were set to
Renal Ciliopathies and Nephronophthisis v0.257 KIAA0753 Zornitza Stark Mode of inheritance for gene: KIAA0753 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.256 KIAA0753 Zornitza Stark Classified gene: KIAA0753 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.256 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0753 Zornitza Stark changed review comment from: Four individuals from three unrelated families reported with a predominantly skeletal ciliopathy phenotype.
Sources: Expert list; to: Four individuals from three unrelated families reported with a predominantly skeletal ciliopathy phenotype, one with OFD, and one with Jeune. Only the individual with OFD is reported to have had renal involvement (hydronephrosis) which may or may not be considered part of a ciliopathy phenotype.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Changed phenotypes: Short-rib skeletal dysplasia, Orofaciodigital syndrome XV, MIM# 617127, Jeune ATD
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Changed publications: 29138412, 26643951, 31816441
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Changed publications: 29138412, 26643951; Changed phenotypes: Short-rib skeletal dysplasia, Orofaciodigital syndrome XV, MIM# 617127
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.255 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from to Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546; Joubert syndrome 23, MIM# 616490
Renal Ciliopathies and Nephronophthisis v0.254 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to
Renal Ciliopathies and Nephronophthisis v0.253 KIAA0586 Zornitza Stark Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.252 KIAA0586 Zornitza Stark Classified gene: KIAA0586 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.252 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark changed review comment from: Four unrelated families reported with a severe neurological/skeletal phenotype. However, note same variant identified in three of the families, indicative of founder effect. Gene is also associated with Joubert syndrome.; to: Multiple families reported with JBTS/ATD phenotype. Renal involvement not reported.
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed rating: RED
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed publications: 26166481, 26096313, 29146704
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed rating: GREEN; Changed publications: 26166481, 26096313; Changed phenotypes: Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546, Joubert syndrome 23, MIM# 616490
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0556 Zornitza Stark Marked gene: KIAA0556 as ready
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.251 KIAA0556 Zornitza Stark Phenotypes for gene: KIAA0556 were changed from to Joubert syndrome 26, MIM# 616784
Renal Ciliopathies and Nephronophthisis v0.250 KIAA0556 Zornitza Stark Publications for gene: KIAA0556 were set to
Renal Ciliopathies and Nephronophthisis v0.249 KIAA0556 Zornitza Stark Mode of inheritance for gene: KIAA0556 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.248 KIAA0556 Zornitza Stark Classified gene: KIAA0556 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.248 KIAA0556 Zornitza Stark Gene: kiaa0556 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.247 KIAA0556 Zornitza Stark reviewed gene: KIAA0556: Rating: RED; Mode of pathogenicity: None; Publications: 26714646, 27245168; Phenotypes: Joubert syndrome 26, MIM# 616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.247 IFT43 Zornitza Stark Marked gene: IFT43 as ready
Renal Ciliopathies and Nephronophthisis v0.247 IFT43 Zornitza Stark Gene: ift43 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.247 IFT43 Zornitza Stark Phenotypes for gene: IFT43 were changed from to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Cranioectodermal dysplasia 3, MIM# 614099
Renal Ciliopathies and Nephronophthisis v0.246 IFT43 Zornitza Stark Publications for gene: IFT43 were set to
Renal Ciliopathies and Nephronophthisis v0.245 IFT43 Zornitza Stark Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.244 IFT43 Zornitza Stark changed review comment from: Two families reported with short-rib thoracic dysplasia and two with cranioectodermal dysplasia.; to: Two families reported with short-rib thoracic dysplasia and two with cranioectodermal dysplasia. Renal involvement including nephronophthisis/cysts in both.
Renal Ciliopathies and Nephronophthisis v0.244 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Renal Ciliopathies and Nephronophthisis v0.244 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.244 IFT27 Zornitza Stark Phenotypes for gene: IFT27 were changed from to Bardet-Biedl syndrome 19, MIM#615996
Renal Ciliopathies and Nephronophthisis v0.243 IFT27 Zornitza Stark Publications for gene: IFT27 were set to
Renal Ciliopathies and Nephronophthisis v0.242 IFT27 Zornitza Stark Mode of inheritance for gene: IFT27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.240 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Renal Ciliopathies and Nephronophthisis v0.240 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.240 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964
Renal Ciliopathies and Nephronophthisis v0.239 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Renal Ciliopathies and Nephronophthisis v0.238 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.237 IFT140 Zornitza Stark edited their review of gene: IFT140: Changed phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, MONDO:0009964
Renal Ciliopathies and Nephronophthisis v0.237 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.237 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Renal Ciliopathies and Nephronophthisis v0.237 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.237 LZTFL1 Zornitza Stark Phenotypes for gene: LZTFL1 were changed from to Bardet-Biedl syndrome 17 (MIM#615994)
Renal Ciliopathies and Nephronophthisis v0.236 LZTFL1 Zornitza Stark Publications for gene: LZTFL1 were set to
Renal Ciliopathies and Nephronophthisis v0.235 LZTFL1 Zornitza Stark Mode of inheritance for gene: LZTFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.234 LZTFL1 Zornitza Stark reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.234 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# 218330 to Cranioectodermal dysplasia 1, MIM# 218330; MONDO:0021093
Renal Ciliopathies and Nephronophthisis v0.233 IFT122 Zornitza Stark Marked gene: IFT122 as ready
Renal Ciliopathies and Nephronophthisis v0.233 IFT122 Zornitza Stark Gene: ift122 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.233 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from to Cranioectodermal dysplasia 1, MIM# 218330
Renal Ciliopathies and Nephronophthisis v0.232 IFT122 Zornitza Stark Publications for gene: IFT122 were set to
Renal Ciliopathies and Nephronophthisis v0.231 IFT122 Zornitza Stark Mode of inheritance for gene: IFT122 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.230 IFT122 Zornitza Stark reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493458, 23826986, 28370949, 33717254, 26792575; Phenotypes: Cranioectodermal dysplasia 1, MIM# 218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.230 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Renal Ciliopathies and Nephronophthisis v0.230 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.230 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from to Bardet-Biedl syndrome; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Renal Ciliopathies and Nephronophthisis v0.229 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Renal Ciliopathies and Nephronophthisis v0.228 IFT172 Zornitza Stark Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.227 IFT172 Zornitza Stark changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is associated with other ciliopathies as well.; to: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is also associated with skeletal ciliopathy, with nephronophthisis reported.
Renal Ciliopathies and Nephronophthisis v0.227 IFT172 Zornitza Stark edited their review of gene: IFT172: Changed publications: 30761183, 26763875, 25168386, 24140113; Changed phenotypes: Bardet-Biedl syndrome, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Renal Ciliopathies and Nephronophthisis v0.227 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127MONDO:0013127
Renal Ciliopathies and Nephronophthisis v0.226 DYNC2H1 Zornitza Stark edited their review of gene: DYNC2H1: Changed phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127
Renal Ciliopathies and Nephronophthisis v0.226 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Renal Ciliopathies and Nephronophthisis v0.226 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.226 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
Renal Ciliopathies and Nephronophthisis v0.225 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Renal Ciliopathies and Nephronophthisis v0.224 DYNC2H1 Zornitza Stark Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.223 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31730820; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.223 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Renal Ciliopathies and Nephronophthisis v0.223 CEP41 Zornitza Stark Gene: cep41 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.223 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464
Renal Ciliopathies and Nephronophthisis v0.222 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Renal Ciliopathies and Nephronophthisis v0.221 CEP41 Zornitza Stark Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.220 CEP41 Zornitza Stark Classified gene: CEP41 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.220 CEP41 Zornitza Stark Gene: cep41 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.219 CEP41 Zornitza Stark reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.219 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Renal Ciliopathies and Nephronophthisis v0.219 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.219 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Senior-Loken syndrome 6, MIM# 610189
Renal Ciliopathies and Nephronophthisis v0.218 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Renal Ciliopathies and Nephronophthisis v0.217 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.216 CEP290 Zornitza Stark changed review comment from: Variants in this gene cause a range of ciliopathies. The association with BBS is rare.; to: Variants in this gene cause a range of ciliopathies, including Senior-Loken syndrome/nephronophthisis.
Renal Ciliopathies and Nephronophthisis v0.216 CEP290 Zornitza Stark edited their review of gene: CEP290: Changed publications: 18327255, 20690115, 16682973, 32208788; Changed phenotypes: Senior-Loken syndrome 6, MIM# 610189
Renal Ciliopathies and Nephronophthisis v0.216 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Renal Ciliopathies and Nephronophthisis v0.216 CEP104 Zornitza Stark Gene: cep104 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.216 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Renal Ciliopathies and Nephronophthisis v0.215 CEP104 Zornitza Stark Mode of inheritance for gene: CEP104 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.214 CEP104 Zornitza Stark Classified gene: CEP104 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.214 CEP104 Zornitza Stark Gene: cep104 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.213 CEP104 Zornitza Stark reviewed gene: CEP104: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 25, MIM# 616781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.213 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Renal Ciliopathies and Nephronophthisis v0.213 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.213 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from to Meckel syndrome 6, MIM# 612284
Renal Ciliopathies and Nephronophthisis v0.212 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.211 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 6, MIM# 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.211 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Renal Ciliopathies and Nephronophthisis v0.211 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.211 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from to Bardet-Biedl syndrome 2, MIM# 615981
Renal Ciliopathies and Nephronophthisis v0.210 BBS2 Zornitza Stark Publications for gene: BBS2 were set to
Renal Ciliopathies and Nephronophthisis v0.209 BBS2 Zornitza Stark Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.208 BBS2 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Renal anomalies reported.
Renal Ciliopathies and Nephronophthisis v0.208 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Renal Ciliopathies and Nephronophthisis v0.208 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.208 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from to Bardet-Biedl syndrome 12, MIM# 615989
Renal Ciliopathies and Nephronophthisis v0.207 BBS12 Zornitza Stark Publications for gene: BBS12 were set to
Renal Ciliopathies and Nephronophthisis v0.206 BBS12 Zornitza Stark Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.205 BBS12 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Renal anomalies reported.
Renal Ciliopathies and Nephronophthisis v0.205 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Renal Ciliopathies and Nephronophthisis v0.205 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.205 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from to Bardet-Biedl syndrome 10, MIM# 615987
Renal Ciliopathies and Nephronophthisis v0.204 BBS10 Zornitza Stark Publications for gene: BBS10 were set to
Renal Ciliopathies and Nephronophthisis v0.203 BBS10 Zornitza Stark Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.202 BBS10 Zornitza Stark changed review comment from: BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients; to: BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients. Renal anomalies, including cysts reported.
Renal Ciliopathies and Nephronophthisis v0.202 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Renal Ciliopathies and Nephronophthisis v0.202 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.202 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from to Bardet-Biedl syndrome 1, MIM# 209900
Renal Ciliopathies and Nephronophthisis v0.201 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Renal Ciliopathies and Nephronophthisis v0.200 BBS1 Zornitza Stark Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.199 BBS1 Zornitza Stark changed review comment from: Well established gene-disease association.

Some suggestion that heterozygotes may have an increased frequency of obesity, hypertension, diabetes mellitus, and renal disease.; to: Well established gene-disease association. Renal abnormalities reported.

Some suggestion that heterozygotes may have an increased frequency of obesity, hypertension, diabetes mellitus, and renal disease.
Renal Ciliopathies and Nephronophthisis v0.199 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Renal Ciliopathies and Nephronophthisis v0.199 B9D2 Zornitza Stark Gene: b9d2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.199 B9D2 Zornitza Stark Phenotypes for gene: B9D2 were changed from to Meckel syndrome 10, MIM# 614175
Renal Ciliopathies and Nephronophthisis v0.198 B9D2 Zornitza Stark Publications for gene: B9D2 were set to
Renal Ciliopathies and Nephronophthisis v0.197 B9D2 Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.196 B9D2 Zornitza Stark Classified gene: B9D2 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.196 B9D2 Zornitza Stark Gene: b9d2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.195 B9D2 Zornitza Stark reviewed gene: B9D2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21763481; Phenotypes: Meckel syndrome 10, MIM# 614175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.194 TXNDC15 Zornitza Stark Marked gene: TXNDC15 as ready
Renal Ciliopathies and Nephronophthisis v0.194 TXNDC15 Zornitza Stark Gene: txndc15 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.194 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from to Meckel-Gruber syndrome
Renal Ciliopathies and Nephronophthisis v0.193 TXNDC15 Zornitza Stark Mode of inheritance for gene: TXNDC15 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.192 TXNDC15 Zornitza Stark Publications for gene: TXNDC15 were set to
Renal Ciliopathies and Nephronophthisis v0.192 TXNDC15 Zornitza Stark Mode of inheritance for gene: TXNDC15 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.191 TXNDC15 Zornitza Stark Mode of inheritance for gene: TXNDC15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.190 TXNDC15 Zornitza Stark reviewed gene: TXNDC15: Rating: GREEN; Mode of pathogenicity: None; Publications: 30851085, 27894351; Phenotypes: Meckel-Gruber syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.190 TRAF3IP1 Zornitza Stark Marked gene: TRAF3IP1 as ready
Renal Ciliopathies and Nephronophthisis v0.190 TRAF3IP1 Zornitza Stark Gene: traf3ip1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.190 TRAF3IP1 Zornitza Stark Phenotypes for gene: TRAF3IP1 were changed from to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712
Renal Ciliopathies and Nephronophthisis v0.189 TRAF3IP1 Zornitza Stark Publications for gene: TRAF3IP1 were set to
Renal Ciliopathies and Nephronophthisis v0.188 TRAF3IP1 Zornitza Stark Mode of inheritance for gene: TRAF3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.187 TRAF3IP1 Zornitza Stark reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.187 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Renal Ciliopathies and Nephronophthisis v0.187 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.187 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis
Renal Ciliopathies and Nephronophthisis v0.186 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Renal Ciliopathies and Nephronophthisis v0.185 SDCCAG8 Zornitza Stark Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.184 SDCCAG8 Zornitza Stark reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.184 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Renal Ciliopathies and Nephronophthisis v0.184 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.184 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174
Renal Ciliopathies and Nephronophthisis v0.183 NEK8 Zornitza Stark Publications for gene: NEK8 were set to
Renal Ciliopathies and Nephronophthisis v0.182 NEK8 Zornitza Stark Mode of inheritance for gene: NEK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.181 NEK8 Zornitza Stark reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.181 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Renal Ciliopathies and Nephronophthisis v0.181 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.181 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from to Senior-Loken syndrome 5, MIM# 609254; MONDO:0012225
Renal Ciliopathies and Nephronophthisis v0.180 IQCB1 Zornitza Stark Publications for gene: IQCB1 were set to
Renal Ciliopathies and Nephronophthisis v0.179 IQCB1 Zornitza Stark Mode of inheritance for gene: IQCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.178 IQCB1 Zornitza Stark reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254, MONDO:0012225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.178 DDX59 Zornitza Stark Marked gene: DDX59 as ready
Renal Ciliopathies and Nephronophthisis v0.178 DDX59 Zornitza Stark Gene: ddx59 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.178 DDX59 Zornitza Stark Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V (MIM#174300)
Renal Ciliopathies and Nephronophthisis v0.177 DDX59 Zornitza Stark Publications for gene: DDX59 were set to
Renal Ciliopathies and Nephronophthisis v0.176 DDX59 Zornitza Stark Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.175 DDX59 Zornitza Stark Classified gene: DDX59 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.175 DDX59 Zornitza Stark Gene: ddx59 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.174 DDX59 Zornitza Stark reviewed gene: DDX59: Rating: AMBER; Mode of pathogenicity: None; Publications: 29127725, 23972372, 28711741; Phenotypes: Orofaciodigital syndrome V (MIM#174300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.174 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Renal Ciliopathies and Nephronophthisis v0.174 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.174 CEP83 Zornitza Stark Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Renal Ciliopathies and Nephronophthisis v0.173 CEP83 Zornitza Stark Publications for gene: CEP83 were set to
Renal Ciliopathies and Nephronophthisis v0.172 CEP83 Zornitza Stark Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.171 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.171 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Renal Ciliopathies and Nephronophthisis v0.171 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.171 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Renal Ciliopathies and Nephronophthisis v0.170 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Renal Ciliopathies and Nephronophthisis v0.169 CEP164 Zornitza Stark Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.168 CEP164 Zornitza Stark reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: None; Publications: 34132027, 34013113, 32055034, 27708425, 22863007; Phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.168 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Renal Ciliopathies and Nephronophthisis v0.168 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.168 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Renal Ciliopathies and Nephronophthisis v0.167 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Renal Ciliopathies and Nephronophthisis v0.166 BBS9 Zornitza Stark Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.165 BBS9 Zornitza Stark reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16380913, 22353939, 32686083, 32037757; Phenotypes: Bardet-Biedl syndrome 9, MIM#615986, MONDO:0014437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.165 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Renal Ciliopathies and Nephronophthisis v0.165 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.165 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435 to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Renal Ciliopathies and Nephronophthisis v0.165 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Renal Ciliopathies and Nephronophthisis v0.164 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Renal Ciliopathies and Nephronophthisis v0.163 BBS7 Zornitza Stark Mode of inheritance for gene: BBS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.162 BBS7 Zornitza Stark reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12567324, 21937992, 19797195; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.162 BBS5 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, renal abnormalities are a feature.
Renal Ciliopathies and Nephronophthisis v0.162 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Renal Ciliopathies and Nephronophthisis v0.162 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.162 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Renal Ciliopathies and Nephronophthisis v0.161 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Renal Ciliopathies and Nephronophthisis v0.160 BBS5 Zornitza Stark Mode of inheritance for gene: BBS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.159 BBS5 Zornitza Stark reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19252258, 15137946, 10053027, 15637713; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.159 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Renal Ciliopathies and Nephronophthisis v0.159 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.159 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Renal Ciliopathies and Nephronophthisis v0.158 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Renal Ciliopathies and Nephronophthisis v0.157 BBS4 Zornitza Stark Mode of inheritance for gene: BBS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.156 BBS4 Zornitza Stark reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12016587, 11381270; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982, MONDO:0014433; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.156 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Renal Ciliopathies and Nephronophthisis v0.156 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.156 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151
Renal Ciliopathies and Nephronophthisis v0.155 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Renal Ciliopathies and Nephronophthisis v0.154 ARL6 Zornitza Stark Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.153 ARL6 Zornitza Stark reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.153 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Renal Ciliopathies and Nephronophthisis v0.153 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.153 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Nephronophthisis 3, MIM# 604387; Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Renal Ciliopathies and Nephronophthisis v0.152 NPHP3 Zornitza Stark Publications for gene: NPHP3 were set to
Renal Ciliopathies and Nephronophthisis v0.151 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.150 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19177160, 34013113, 33323469, 32341812, 28921755; Phenotypes: Nephronophthisis 3, MIM# 604387, Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.150 MAPKBP1 Zornitza Stark Marked gene: MAPKBP1 as ready
Renal Ciliopathies and Nephronophthisis v0.150 MAPKBP1 Zornitza Stark Gene: mapkbp1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.150 MAPKBP1 Zornitza Stark Phenotypes for gene: MAPKBP1 were changed from to Nephronophthisis 20, MIM# 617271; MONDO:0014997
Renal Ciliopathies and Nephronophthisis v0.149 MAPKBP1 Zornitza Stark Publications for gene: MAPKBP1 were set to
Renal Ciliopathies and Nephronophthisis v0.148 MAPKBP1 Zornitza Stark Mode of inheritance for gene: MAPKBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.147 MAPKBP1 Zornitza Stark reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.147 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Renal Ciliopathies and Nephronophthisis v0.147 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.147 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Renal Ciliopathies and Nephronophthisis v0.146 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Renal Ciliopathies and Nephronophthisis v0.145 NEK1 Zornitza Stark Mode of inheritance for gene: NEK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.144 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.144 XPNPEP3 Zornitza Stark changed review comment from: PMID 20179356: two families with 5 individuals reported. Functional data, including animal models, supportive evidence.

PMID 32660933: Additional case reported.; to: PMID 20179356: two families with 5 individuals reported. Functional data, including animal models, supportive evidence for involvement in ciliary function.

PMID 32660933: Additional case reported.
Renal Ciliopathies and Nephronophthisis v0.144 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.144 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.143 XPNPEP3 Zornitza Stark changed review comment from: Additional case reported.; to: PMID 20179356: two families with 5 individuals reported. Functional data, including animal models, supportive evidence.

PMID 32660933: Additional case reported.
Renal Ciliopathies and Nephronophthisis v0.143 XPNPEP3 Zornitza Stark edited their review of gene: XPNPEP3: Changed rating: GREEN
Renal Ciliopathies and Nephronophthisis v0.143 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to 20179356
Renal Ciliopathies and Nephronophthisis v0.142 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.142 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.141 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32660933, 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.141 PDIA6 Zornitza Stark Marked gene: PDIA6 as ready
Renal Ciliopathies and Nephronophthisis v0.141 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.141 PDIA6 Zornitza Stark Classified gene: PDIA6 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.141 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.140 PDIA6 Zornitza Stark reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.140 PDIA6 Chirag Patel gene: PDIA6 was added
gene: PDIA6 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to PMID: 33495992
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Review for gene: PDIA6 was set to RED
Added comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.139 GLIS2 Zornitza Stark edited their review of gene: GLIS2: Changed phenotypes: Nephronophthisis 7, OMIM#611498, MONDO:0012680
Renal Ciliopathies and Nephronophthisis v0.139 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from Nephronophthisis 7, OMIM#611498 to Nephronophthisis 7, OMIM#611498; MONDO:0012680
Renal Ciliopathies and Nephronophthisis v0.138 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to 17618285; 23559409
Renal Ciliopathies and Nephronophthisis v0.137 GLIS2 Zornitza Stark reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31676329; Phenotypes: Nephronophthisis 7, OMIM#611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.137 ANKS6 Zornitza Stark Marked gene: ANKS6 as ready
Renal Ciliopathies and Nephronophthisis v0.137 ANKS6 Zornitza Stark Gene: anks6 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.137 ANKS6 Zornitza Stark Phenotypes for gene: ANKS6 were changed from to Nephronophthisis 16, MIM# 615382; MONDO:0014158
Renal Ciliopathies and Nephronophthisis v0.136 ANKS6 Zornitza Stark Publications for gene: ANKS6 were set to 23793029; 31678577; 31635528; 26039630; 24610927
Renal Ciliopathies and Nephronophthisis v0.136 ANKS6 Zornitza Stark Publications for gene: ANKS6 were set to
Renal Ciliopathies and Nephronophthisis v0.135 ANKS6 Zornitza Stark Mode of inheritance for gene: ANKS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.134 ANKS6 Zornitza Stark reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23793029, 31678577, 31635528, 26039630, 24610927; Phenotypes: Nephronophthisis 16, MIM# 615382, MONDO:0014158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.134 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Renal Ciliopathies and Nephronophthisis v0.134 INPP5E Zornitza Stark Gene: inpp5e has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.134 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944
Renal Ciliopathies and Nephronophthisis v0.133 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Renal Ciliopathies and Nephronophthisis v0.132 INPP5E Zornitza Stark Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.131 INPP5E Zornitza Stark reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.131 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Renal Ciliopathies and Nephronophthisis v0.131 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.131 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Renal Ciliopathies and Nephronophthisis v0.130 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Renal Ciliopathies and Nephronophthisis v0.129 CSPP1 Zornitza Stark Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.128 CSPP1 Zornitza Stark reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.128 INVS Zornitza Stark Marked gene: INVS as ready
Renal Ciliopathies and Nephronophthisis v0.128 INVS Zornitza Stark Gene: invs has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.128 INVS Zornitza Stark Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, (MIM#602088)
Renal Ciliopathies and Nephronophthisis v0.127 INVS Zornitza Stark Publications for gene: INVS were set to
Renal Ciliopathies and Nephronophthisis v0.126 INVS Zornitza Stark Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.125 INVS Paul De Fazio reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872123, 19177160; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal Ciliopathies and Nephronophthisis v0.125 CRB2 Zornitza Stark Publications for gene: CRB2 were set to 25557780
Renal Ciliopathies and Nephronophthisis v0.124 CRB2 Zornitza Stark changed review comment from: Three unrelated families described.
Sources: Expert list; to: More than 5 unrelated families reported, mouse model.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.124 CRB2 Zornitza Stark edited their review of gene: CRB2: Changed publications: 25557780, 33687977, 32051522, 30212996; Changed phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730
Renal Ciliopathies and Nephronophthisis v0.124 WDPCP Zornitza Stark Publications for gene: WDPCP were set to 20671153; 25427950
Renal Ciliopathies and Nephronophthisis v0.123 WDPCP Zornitza Stark Classified gene: WDPCP as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.123 WDPCP Zornitza Stark Gene: wdpcp has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.122 WDPCP Zornitza Stark edited their review of gene: WDPCP: Added comment: Four families reported with ciliopathy phenotypes, including BBS, OFD, syndromic retinopathy.; Changed rating: GREEN; Changed publications: 20671153, 25427950, 32055034, 29588463, 28289185
Renal Ciliopathies and Nephronophthisis v0.122 WDPCP Zornitza Stark Marked gene: WDPCP as ready
Renal Ciliopathies and Nephronophthisis v0.122 WDPCP Zornitza Stark Gene: wdpcp has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.122 WDPCP Zornitza Stark Phenotypes for gene: WDPCP were changed from to Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Renal Ciliopathies and Nephronophthisis v0.121 WDPCP Zornitza Stark Publications for gene: WDPCP were set to
Renal Ciliopathies and Nephronophthisis v0.120 WDPCP Zornitza Stark Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.119 WDPCP Zornitza Stark Classified gene: WDPCP as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.119 WDPCP Zornitza Stark Gene: wdpcp has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.118 WDPCP Zornitza Stark reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992, OFD, Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.118 PKHD1 Zornitza Stark Marked gene: PKHD1 as ready
Renal Ciliopathies and Nephronophthisis v0.118 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.118 PKHD1 Zornitza Stark Classified gene: PKHD1 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.118 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.117 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Renal Ciliopathies and Nephronophthisis. Sources: Expert Review
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Review for gene: PKHD1 was set to GREEN
Added comment: Included due to possible phenotypic overlap.
Sources: Expert Review
Renal Ciliopathies and Nephronophthisis v0.116 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Renal Ciliopathies and Nephronophthisis v0.116 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.116 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from to Nephronophthisis 1, juvenile, MIM# 256100
Renal Ciliopathies and Nephronophthisis v0.115 NPHP1 Zornitza Stark Publications for gene: NPHP1 were set to
Renal Ciliopathies and Nephronophthisis v0.114 NPHP1 Zornitza Stark Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.113 NPHP1 Zornitza Stark Tag SV/CNV tag was added to gene: NPHP1.
Renal Ciliopathies and Nephronophthisis v0.113 NPHP1 Zornitza Stark reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23559409; Phenotypes: Nephronophthisis 1, juvenile, MIM# 256100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.113 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Renal Ciliopathies and Nephronophthisis v0.113 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.113 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Renal Ciliopathies and Nephronophthisis v0.112 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Renal Ciliopathies and Nephronophthisis v0.111 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.110 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.110 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Renal Ciliopathies and Nephronophthisis v0.110 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.110 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680); Joubert syndrome
Renal Ciliopathies and Nephronophthisis v0.109 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Renal Ciliopathies and Nephronophthisis v0.108 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.107 HYLS1 Zornitza Stark Classified gene: HYLS1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.107 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.106 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Renal Ciliopathies and Nephronophthisis v0.106 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: RED; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680), Joubert syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.106 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Renal Ciliopathies and Nephronophthisis v0.106 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.106 ARL13B Zornitza Stark Phenotypes for gene: ARL13B were changed from to Joubert syndrome 8, MIM# 612291
Renal Ciliopathies and Nephronophthisis v0.105 ARL13B Zornitza Stark Publications for gene: ARL13B were set to
Renal Ciliopathies and Nephronophthisis v0.104 ARL13B Zornitza Stark Mode of inheritance for gene: ARL13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.103 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 25138100, 26092869, 27894351, 29255182, 17488627; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.103 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to 25557784
Renal Ciliopathies and Nephronophthisis v0.102 BBIP1 Zornitza Stark Publications for gene: BBIP1 were set to 24026985
Renal Ciliopathies and Nephronophthisis v0.101 BBIP1 Zornitza Stark edited their review of gene: BBIP1: Added comment: Additional family reported.; Changed publications: 24026985, 32055034V
Renal Ciliopathies and Nephronophthisis v0.101 ZNF423 Zornitza Stark Classified gene: ZNF423 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.101 ZNF423 Zornitza Stark Gene: znf423 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.100 ZNF423 Zornitza Stark edited their review of gene: ZNF423: Changed rating: AMBER
Renal Ciliopathies and Nephronophthisis v0.100 DCDC2 Elena Savva reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25557784, 31821705; Phenotypes: Nephronophthisis 19 616217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.100 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Rare Disease
Renal Ciliopathies and Nephronophthisis v0.99 IFT74 Zornitza Stark Publications for gene: IFT74 were set to 27486776
Renal Ciliopathies and Nephronophthisis v0.98 IFT74 Zornitza Stark edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants reported. However, neither had renal disease.; Changed publications: 27486776, 32144365
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Zornitza Stark Marked gene: ADAMTS9 as ready
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Alison Yeung Classified gene: ADAMTS9 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Alison Yeung Gene: adamts9 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.95 ADAMTS9 Alison Yeung gene: ADAMTS9 was added
gene: ADAMTS9 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to PMID:30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy
Penetrance for gene: ADAMTS9 were set to unknown
Review for gene: ADAMTS9 was set to GREEN
gene: ADAMTS9 was marked as current diagnostic
Added comment: Two families reported with functional evidence
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.95 ADAMTS9 Alison Yeung gene: ADAMTS9 was added
gene: ADAMTS9 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to PMID:30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy
Penetrance for gene: ADAMTS9 were set to unknown
Review for gene: ADAMTS9 was set to GREEN
gene: ADAMTS9 was marked as current diagnostic
Added comment: Two families reported with functional evidence
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.94 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Renal Ciliopathies and Nephronophthisis v0.93 Zornitza Stark Panel name changed from Renal ciliopathies and nephronophthisis_KidGen_VCGS to Renal Ciliopathies and Nephronophthisis
Panel types changed to Victorian Clinical Genetics Services; KidGen
Renal Ciliopathies and Nephronophthisis v0.92 GLIS2 Zornitza Stark Marked gene: GLIS2 as ready
Renal Ciliopathies and Nephronophthisis v0.92 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.92 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from Nephronophthisis 7, OMIM#611498 to Nephronophthisis 7, OMIM#611498
Renal Ciliopathies and Nephronophthisis v0.92 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from to Nephronophthisis 7, OMIM#611498
Renal Ciliopathies and Nephronophthisis v0.91 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to
Renal Ciliopathies and Nephronophthisis v0.91 GLIS2 Zornitza Stark Mode of inheritance for gene: GLIS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.90 B9D1 Zornitza Stark Marked gene: B9D1 as ready
Renal Ciliopathies and Nephronophthisis v0.90 B9D1 Zornitza Stark Gene: b9d1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.90 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from Meckel syndrome 9, OMIM #614209; Joubert syndrome 27, OMIM #617120 to Meckel syndrome 9, OMIM #614209; Joubert syndrome 27, OMIM #617120
Renal Ciliopathies and Nephronophthisis v0.89 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from to Meckel syndrome 9, OMIM #614209; Joubert syndrome 27, OMIM #617120
Renal Ciliopathies and Nephronophthisis v0.89 B9D1 Zornitza Stark Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.88 EVC Zornitza Stark Marked gene: EVC as ready
Renal Ciliopathies and Nephronophthisis v0.88 EVC Zornitza Stark Gene: evc has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.88 EVC Zornitza Stark Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome, MIM#225500 to Ellis-van Creveld syndrome, MIM#225500
Renal Ciliopathies and Nephronophthisis v0.87 EVC Zornitza Stark Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM#225500
Renal Ciliopathies and Nephronophthisis v0.86 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.85 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Renal Ciliopathies and Nephronophthisis v0.85 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.85 FOXC1 Zornitza Stark Phenotypes for gene: FOXC1 were changed from to Axenfeld-Rieger syndrome, type 3, MIM#602482
Renal Ciliopathies and Nephronophthisis v0.84 IFT57 Zornitza Stark Marked gene: IFT57 as ready
Renal Ciliopathies and Nephronophthisis v0.84 IFT57 Zornitza Stark Gene: ift57 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.84 IFT57 Zornitza Stark Phenotypes for gene: IFT57 were changed from Orofaciodigital syndrome XVIII, MIM#617927 to Orofaciodigital syndrome XVIII, MIM#617927
Renal Ciliopathies and Nephronophthisis v0.83 IFT57 Zornitza Stark Phenotypes for gene: IFT57 were changed from to Orofaciodigital syndrome XVIII, MIM#617927
Renal Ciliopathies and Nephronophthisis v0.82 KIF14 Zornitza Stark Marked gene: KIF14 as ready
Renal Ciliopathies and Nephronophthisis v0.82 KIF14 Zornitza Stark Gene: kif14 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.82 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from Joubert syndrome 22, OMIM #615665 to Joubert syndrome 22, OMIM #615665
Renal Ciliopathies and Nephronophthisis v0.81 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Renal Ciliopathies and Nephronophthisis v0.81 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.81 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Renal Ciliopathies and Nephronophthisis v0.81 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Renal Ciliopathies and Nephronophthisis v0.80 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.79 POC1B Zornitza Stark Mode of inheritance for gene: POC1B was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.79 POC1B Zornitza Stark Marked gene: POC1B as ready
Renal Ciliopathies and Nephronophthisis v0.79 POC1B Zornitza Stark Gene: poc1b has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.79 POC1B Zornitza Stark Mode of inheritance for gene: POC1B was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.78 POC1B Zornitza Stark Mode of inheritance for gene: POC1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.78 POC1B Zornitza Stark Phenotypes for gene: POC1B were changed from to Cone-rod dystrophy 20, MIM#615973
Renal Ciliopathies and Nephronophthisis v0.77 SLC41A1 Zornitza Stark Marked gene: SLC41A1 as ready
Renal Ciliopathies and Nephronophthisis v0.77 SLC41A1 Zornitza Stark Gene: slc41a1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.77 SLC41A1 Zornitza Stark Phenotypes for gene: SLC41A1 were changed from to Nephronophthisis; no OMIM number
Renal Ciliopathies and Nephronophthisis v0.76 SLC41A1 Zornitza Stark Publications for gene: SLC41A1 were set to
Renal Ciliopathies and Nephronophthisis v0.76 SLC41A1 Zornitza Stark Mode of inheritance for gene: SLC41A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.75 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Renal Ciliopathies and Nephronophthisis v0.75 WDR34 Zornitza Stark Gene: wdr34 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.75 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633 to Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633
Renal Ciliopathies and Nephronophthisis v0.74 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633
Renal Ciliopathies and Nephronophthisis v0.74 WDR34 Zornitza Stark Mode of inheritance for gene: WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.73 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from Nephronophthisis-like nephropathy 1, OMIM #613159 to Nephronophthisis-like nephropathy 1, OMIM #613159
Renal Ciliopathies and Nephronophthisis v0.72 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Renal Ciliopathies and Nephronophthisis v0.72 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.72 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Renal Ciliopathies and Nephronophthisis v0.72 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to
Renal Ciliopathies and Nephronophthisis v0.71 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.70 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Renal Ciliopathies and Nephronophthisis v0.70 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.70 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV, MIM# 615948 to Orofaciodigital syndrome XIV, MIM# 615948
Renal Ciliopathies and Nephronophthisis v0.69 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948
Renal Ciliopathies and Nephronophthisis v0.68 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.67 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Renal Ciliopathies and Nephronophthisis v0.67 IFT81 Zornitza Stark Added comment: Comment when marking as ready: Single family with renal phenotype.
Renal Ciliopathies and Nephronophthisis v0.67 IFT81 Zornitza Stark Gene: ift81 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.67 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.66 IFT81 Zornitza Stark Publications for gene: IFT81 were set to
Renal Ciliopathies and Nephronophthisis v0.65 IFT81 Zornitza Stark Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly; OMIM #617895
Renal Ciliopathies and Nephronophthisis v0.64 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Renal Ciliopathies and Nephronophthisis v0.64 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.64 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844
Renal Ciliopathies and Nephronophthisis v0.63 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to
Renal Ciliopathies and Nephronophthisis v0.62 XPNPEP3 Chirag Patel Classified gene: XPNPEP3 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.62 XPNPEP3 Chirag Patel Gene: xpnpep3 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.61 ZNF423 Zornitza Stark Mode of inheritance for gene: ZNF423 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.60 XPNPEP3 Chirag Patel reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.60 ZNF423 Zornitza Stark Classified gene: ZNF423 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.60 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.59 ZNF423 Zornitza Stark reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.59 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Renal Ciliopathies and Nephronophthisis v0.59 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.59 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988
Renal Ciliopathies and Nephronophthisis v0.58 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Renal Ciliopathies and Nephronophthisis v0.57 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.56 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.56 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.55 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.55 WDR34 Chirag Patel Classified gene: WDR34 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.55 WDR34 Chirag Patel Gene: wdr34 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.54 WDR34 Chirag Patel reviewed gene: WDR34: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.54 SLC41A1 Chirag Patel Classified gene: SLC41A1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.54 SLC41A1 Chirag Patel Gene: slc41a1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.53 SLC41A1 Chirag Patel reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23661805; Phenotypes: no OMIM number; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.53 SCLT1 Chirag Patel Classified gene: SCLT1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.53 SCLT1 Chirag Patel Gene: sclt1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.52 SCLT1 Chirag Patel reviewed gene: SCLT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.52 POC1B Chirag Patel Classified gene: POC1B as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.52 POC1B Chirag Patel Gene: poc1b has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.51 POC1B Chirag Patel reviewed gene: POC1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.51 PDE6D Chirag Patel Classified gene: PDE6D as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.51 PDE6D Chirag Patel Gene: pde6d has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.50 PDE6D Chirag Patel reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24166846; Phenotypes: ?Joubert syndrome 22, OMIM #615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.50 KIF14 Chirag Patel Classified gene: KIF14 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.50 KIF14 Chirag Patel Gene: kif14 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.49 KIF14 Chirag Patel reviewed gene: KIF14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.49 IFT81 Chirag Patel changed review comment from: 1 patient with homozygous mutation in IFT81 affecting an obligatory donor splice site with nephronophthisis and polydactyly.; to: 1 patient with homozygous mutation in IFT81 affecting an obligatory donor splice site with nephronophthisis and polydactyly. So not a true renal ciliopathy.
Renal Ciliopathies and Nephronophthisis v0.49 IFT81 Chirag Patel Classified gene: IFT81 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.49 IFT81 Chirag Patel Gene: ift81 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.48 IFT81 Chirag Patel reviewed gene: IFT81: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 26275418; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM #617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.48 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Renal Ciliopathies and Nephronophthisis v0.48 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.48 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from to Bardet-Biedl syndrome 20 617119
Renal Ciliopathies and Nephronophthisis v0.47 IFT74 Zornitza Stark Publications for gene: IFT74 were set to
Renal Ciliopathies and Nephronophthisis v0.46 IFT74 Zornitza Stark Mode of inheritance for gene: IFT74 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.45 IFT74 Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.45 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.44 IFT74 Zornitza Stark reviewed gene: IFT74: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486776; Phenotypes: Bardet-Biedl syndrome 20 617119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.44 IFT57 Chirag Patel Classified gene: IFT57 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.44 IFT57 Chirag Patel Gene: ift57 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.43 IFT57 Chirag Patel reviewed gene: IFT57: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.43 GLIS2 Chirag Patel Classified gene: GLIS2 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.43 GLIS2 Chirag Patel Gene: glis2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.43 GLIS2 Chirag Patel Classified gene: GLIS2 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.43 GLIS2 Chirag Patel Gene: glis2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.42 GLIS2 Chirag Patel reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17618285, 23559409; Phenotypes: Nephronophthisis 7, OMIM#611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.42 FOXC1 Chirag Patel Classified gene: FOXC1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.42 FOXC1 Chirag Patel Gene: foxc1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.41 FOXC1 Chirag Patel reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.41 DCDC2 Zornitza Stark Marked gene: DCDC2 as ready
Renal Ciliopathies and Nephronophthisis v0.41 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.41 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Renal Ciliopathies and Nephronophthisis v0.41 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.41 EVC Chirag Patel Classified gene: EVC as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.41 EVC Chirag Patel Gene: evc has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.41 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from to Ellis van Creveld syndrome
Renal Ciliopathies and Nephronophthisis v0.40 EVC Chirag Patel reviewed gene: EVC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.40 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.39 EVC2 Zornitza Stark Classified gene: EVC2 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.39 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.38 EVC2 Zornitza Stark reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis van Creveld syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.38 DCDC2 Zornitza Stark Phenotypes for gene: DCDC2 were changed from to Nephronophthisis 19, MIM# 616217
Renal Ciliopathies and Nephronophthisis v0.37 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to
Renal Ciliopathies and Nephronophthisis v0.36 DCDC2 Zornitza Stark Mode of inheritance for gene: DCDC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.35 DCDC2 Zornitza Stark Classified gene: DCDC2 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.35 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.34 DCDC2 Zornitza Stark reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25557784; Phenotypes: Nephronophthisis 19, MIM# 616217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.34 CEP120 Chirag Patel Classified gene: CEP120 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.34 CEP120 Chirag Patel Gene: cep120 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.33 CEP120 Chirag Patel reviewed gene: CEP120: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25361962; Phenotypes: Joubert syndrome 31, OMIM #617761, Short-rib thoracic dysplasia 13 with or without polydactyly, OMIM #616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.33 C2CD3 Chirag Patel Classified gene: C2CD3 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.33 C2CD3 Chirag Patel Gene: c2cd3 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.32 C2CD3 Chirag Patel changed review comment from: Renal phenotype not commonly seen in this group.; to: Renal phenotype not commonly seen in this ciliopathy, so not a renal ciliopathy
Renal Ciliopathies and Nephronophthisis v0.32 C2CD3 Chirag Patel reviewed gene: C2CD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.32 B9D1 Chirag Patel Classified gene: B9D1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.32 B9D1 Chirag Patel Gene: b9d1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.31 B9D1 Chirag Patel reviewed gene: B9D1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Meckel syndrome 9, OMIM #614209, Joubert syndrome 27, OMIM #617120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.31 ICK Zornitza Stark Marked gene: ICK as ready
Renal Ciliopathies and Nephronophthisis v0.31 ICK Zornitza Stark Gene: ick has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.31 ICK Zornitza Stark gene: ICK was added
gene: ICK was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert list
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 19185282; 27069622
Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia, MIM# 612651
Review for gene: ICK was set to RED
Added comment: 6 affected individuals from 2 Amish families reported originally (founder effect); another Turkish family reported since. However, renal cysts only reported in the Amish families, emerging ciliopathy gene, renal phenotype remains to be elucidated.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.30 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Renal Ciliopathies and Nephronophthisis v0.30 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.30 CRB2 Zornitza Stark Classified gene: CRB2 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.30 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.29 CRB2 Zornitza Stark gene: CRB2 was added
gene: CRB2 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert list
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB2 were set to 25557780
Phenotypes for gene: CRB2 were set to Ventriculomegaly with cystic kidney disease, MIM# 219730
Review for gene: CRB2 was set to GREEN
Added comment: Three unrelated families described.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.28 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Renal Ciliopathies and Nephronophthisis v0.28 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.28 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Renal Ciliopathies and Nephronophthisis v0.27 CEP120 Zornitza Stark Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.26 CEP120 Zornitza Stark reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.26 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Renal Ciliopathies and Nephronophthisis v0.26 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.26 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM#614615; Orofaciodigital syndrome VI, MIM# 277170
Renal Ciliopathies and Nephronophthisis v0.25 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.24 C5orf42 Zornitza Stark Classified gene: C5orf42 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.24 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.23 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 17, MIM#614615, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.23 C2CD3 Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.23 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Renal Ciliopathies and Nephronophthisis v0.23 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.23 BBIP1 Zornitza Stark Phenotypes for gene: BBIP1 were changed from to Bardet-Biedl syndrome 18, MIM#615995
Renal Ciliopathies and Nephronophthisis v0.22 BBIP1 Zornitza Stark Publications for gene: BBIP1 were set to
Renal Ciliopathies and Nephronophthisis v0.21 BBIP1 Zornitza Stark Mode of inheritance for gene: BBIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.20 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.20 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.19 ATXN10 Zornitza Stark Marked gene: ATXN10 as ready
Renal Ciliopathies and Nephronophthisis v0.19 ATXN10 Zornitza Stark Gene: atxn10 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.19 ATXN10 Zornitza Stark Phenotypes for gene: ATXN10 were changed from to Nephronophthisis
Renal Ciliopathies and Nephronophthisis v0.18 ATXN10 Zornitza Stark Publications for gene: ATXN10 were set to
Renal Ciliopathies and Nephronophthisis v0.17 ATXN10 Zornitza Stark Mode of inheritance for gene: ATXN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.16 ATXN10 Zornitza Stark Classified gene: ATXN10 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.16 ATXN10 Zornitza Stark Gene: atxn10 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.15 ATXN10 Zornitza Stark reviewed gene: ATXN10: Rating: RED; Mode of pathogenicity: None; Publications: 21565611; Phenotypes: Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.15 CCDC28B Zornitza Stark Marked gene: CCDC28B as ready
Renal Ciliopathies and Nephronophthisis v0.15 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.15 CCDC28B Zornitza Stark Phenotypes for gene: CCDC28B were changed from to {Bardet-Biedl syndrome 1, modifier of}, MIM#209900
Renal Ciliopathies and Nephronophthisis v0.14 CCDC28B Zornitza Stark Mode of inheritance for gene: CCDC28B was changed from Unknown to Other
Renal Ciliopathies and Nephronophthisis v0.13 CCDC28B Zornitza Stark Classified gene: CCDC28B as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.13 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.12 CCDC28B Zornitza Stark reviewed gene: CCDC28B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Bardet-Biedl syndrome 1, modifier of}, MIM#209900; Mode of inheritance: Other
Renal Ciliopathies and Nephronophthisis v0.12 FAN1 Zornitza Stark Marked gene: FAN1 as ready
Renal Ciliopathies and Nephronophthisis v0.12 FAN1 Zornitza Stark Gene: fan1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.12 FAN1 Zornitza Stark Classified gene: FAN1 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.12 FAN1 Zornitza Stark Gene: fan1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.11 Chirag Patel Panel name changed from Renal ciliopathies and nephronophthisis_KidGen to Renal ciliopathies and nephronophthisis_KidGen_VCGS
Renal Ciliopathies and Nephronophthisis v0.10 SCLT1 Zornitza Stark Marked gene: SCLT1 as ready
Renal Ciliopathies and Nephronophthisis v0.10 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.10 SCLT1 Zornitza Stark Classified gene: SCLT1 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.10 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.9 SCLT1 Zornitza Stark gene: SCLT1 was added
gene: SCLT1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert list
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 28486600; 30425282; 30237576; 28005958; 24285566
Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome type IX; Senior-Loken syndrome
Review for gene: SCLT1 was set to GREEN
Added comment: Reports of individual patients with overlapping features suggestive of ciliopathy, mouse model recapitulates phenotype.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.8 San Lin removed gene:DNAJB11 from the panel
Renal Ciliopathies and Nephronophthisis v0.7 San Lin removed gene:DZIP1L from the panel
Renal Ciliopathies and Nephronophthisis v0.6 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Renal Ciliopathies and Nephronophthisis v0.6 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.6 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from Joubert syndrome 3 to Joubert syndrome 3, MIM#608629
Renal Ciliopathies and Nephronophthisis v0.5 AHI1 Zornitza Stark Classified gene: AHI1 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.5 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.3 FAN1 Chirag Patel gene: FAN1 was added
gene: FAN1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert list
Mode of inheritance for gene: FAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAN1 were set to PubMed: 22772369; 16678356; 7847351; 8546134
Phenotypes for gene: FAN1 were set to Interstitial nephritis, karyomegalic
Review for gene: FAN1 was set to GREEN
Added comment: Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.1 AHI1 Chirag Patel gene: AHI1 was added
gene: AHI1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert list
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHI1 were set to PubMed: 15322546; 15467982; 16453322; 29146704
Phenotypes for gene: AHI1 were set to Joubert syndrome 3
Review for gene: AHI1 was set to GREEN
Added comment: Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.0 DZIP1L Chirag Patel reviewed gene: DZIP1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.0 DNAJB11 Chirag Patel reviewed gene: DNAJB11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v0.0 BBIP1 Zornitza Stark reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24026985; Phenotypes: Bardet-Biedl syndrome 18, MIM#615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.0 DZIP1L Zornitza Stark gene: DZIP1L was added
gene: DZIP1L was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: DZIP1L was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 DNAJB11 Zornitza Stark gene: DNAJB11 was added
gene: DNAJB11 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: DNAJB11 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 ZNF423 Zornitza Stark gene: ZNF423 was added
gene: ZNF423 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: ZNF423 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 XPNPEP3 Zornitza Stark gene: XPNPEP3 was added
gene: XPNPEP3 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: XPNPEP3 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 WDR60 Zornitza Stark gene: WDR60 was added
gene: WDR60 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: WDR60 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: WDR35 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: WDR34 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: WDR19 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 WDPCP Zornitza Stark gene: WDPCP was added
gene: WDPCP was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: WDPCP was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 TXNDC15 Zornitza Stark gene: TXNDC15 was added
gene: TXNDC15 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TXNDC15 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TTC8 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TTC21B was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TRIM32 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 TRAF3IP1 Zornitza Stark gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TRAF3IP1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM67 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM237 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 TMEM231 Zornitza Stark gene: TMEM231 was added
gene: TMEM231 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM231 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM216 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 TMEM138 Zornitza Stark gene: TMEM138 was added
gene: TMEM138 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM138 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 TMEM107 Zornitza Stark gene: TMEM107 was added
gene: TMEM107 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM107 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TCTN3 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 TCTN2 Zornitza Stark gene: TCTN2 was added
gene: TCTN2 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TCTN2 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 TCTN1 Zornitza Stark gene: TCTN1 was added
gene: TCTN1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TCTN1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 SLC41A1 Zornitza Stark gene: SLC41A1 was added
gene: SLC41A1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: SLC41A1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: SDCCAG8 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: RPGRIP1L was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 POC1B Zornitza Stark gene: POC1B was added
gene: POC1B was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: POC1B was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 PDE6D Zornitza Stark gene: PDE6D was added
gene: PDE6D was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: PDE6D was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: OFD1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: NPHP4 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: NPHP3 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: NPHP1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 NEK8 Zornitza Stark gene: NEK8 was added
gene: NEK8 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: NEK8 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: NEK1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: MKS1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: MKKS was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 MAPKBP1 Zornitza Stark gene: MAPKBP1 was added
gene: MAPKBP1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: MAPKBP1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 LZTFL1 Zornitza Stark gene: LZTFL1 was added
gene: LZTFL1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: LZTFL1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIF7 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 KIF14 Zornitza Stark gene: KIF14 was added
gene: KIF14 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIF14 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 KIAA0753 Zornitza Stark gene: KIAA0753 was added
gene: KIAA0753 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIAA0753 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIAA0586 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 KIAA0556 Zornitza Stark gene: KIAA0556 was added
gene: KIAA0556 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIAA0556 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 IQCB1 Zornitza Stark gene: IQCB1 was added
gene: IQCB1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IQCB1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: INVS was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: INPP5E was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 IFT81 Zornitza Stark gene: IFT81 was added
gene: IFT81 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT81 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT74 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 IFT57 Zornitza Stark gene: IFT57 was added
gene: IFT57 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT57 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 IFT43 Zornitza Stark gene: IFT43 was added
gene: IFT43 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT43 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 IFT27 Zornitza Stark gene: IFT27 was added
gene: IFT27 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT27 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT172 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT140 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT122 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: HYLS1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 GLIS2 Zornitza Stark gene: GLIS2 was added
gene: GLIS2 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: GLIS2 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 FOXC1 Zornitza Stark gene: FOXC1 was added
gene: FOXC1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: FOXC1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: EVC2 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: EVC was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: DYNC2H1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 DDX59 Zornitza Stark gene: DDX59 was added
gene: DDX59 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: DDX59 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 DCDC2 Zornitza Stark gene: DCDC2 was added
gene: DCDC2 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: DCDC2 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CSPP1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: C5orf42 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP83 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP41 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP290 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP164 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 CEP120 Zornitza Stark gene: CEP120 was added
gene: CEP120 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP120 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 CEP104 Zornitza Stark gene: CEP104 was added
gene: CEP104 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP104 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 CCDC28B Zornitza Stark gene: CCDC28B was added
gene: CCDC28B was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CCDC28B was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CC2D2A was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 C2CD3 Zornitza Stark gene: C2CD3 was added
gene: C2CD3 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: C2CD3 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS9 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS7 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS5 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS4 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS2 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS12 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS10 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 BBIP1 Zornitza Stark gene: BBIP1 was added
gene: BBIP1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBIP1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 B9D2 Zornitza Stark gene: B9D2 was added
gene: B9D2 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: B9D2 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 B9D1 Zornitza Stark gene: B9D1 was added
gene: B9D1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: B9D1 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 ATXN10 Zornitza Stark gene: ATXN10 was added
gene: ATXN10 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: ATXN10 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: ARL6 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: ARL13B was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 ANKS6 Zornitza Stark gene: ANKS6 was added
gene: ANKS6 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: ANKS6 was set to Unknown
Renal Ciliopathies and Nephronophthisis v0.0 Zornitza Stark Added panel Renal ciliopathies and nephronophthisis_KidGen