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Ciliary Dyskinesia v1.39 CCDC114 Zornitza Stark Tag new gene name tag was added to gene: CCDC114.
Ciliary Dyskinesia v1.39 ARMC4 Zornitza Stark Tag new gene name tag was added to gene: ARMC4.
Ciliary Dyskinesia v1.39 CCDC151 Zornitza Stark Tag new gene name tag was added to gene: CCDC151.
Ciliary Dyskinesia v1.39 TTC25 Zornitza Stark Tag new gene name tag was added to gene: TTC25.
Ciliary Dyskinesia v1.39 TTC25 Sangavi Sivagnanasundram reviewed gene: TTC25: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005700; Phenotypes: primary ciliary dyskinesia 35 MONDO:0014910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.39 CCDC151 Sangavi Sivagnanasundram reviewed gene: CCDC151: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005699; Phenotypes: primary ciliary dyskinesia 30 MONDO:0014465; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.39 ARMC4 Sangavi Sivagnanasundram reviewed gene: ARMC4: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005698; Phenotypes: primary ciliary dyskinesia 23 MONDO:0014193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.39 CCDC114 Sangavi Sivagnanasundram commented on gene: CCDC114
Ciliary Dyskinesia v1.39 DNAH8 Sangavi Sivagnanasundram reviewed gene: DNAH8: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004671; Phenotypes: primary ciliary dyskinesia (MONDO:0016575); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.39 DNAH17 Sangavi Sivagnanasundram changed review comment from: Classified DEFINITIVE by ClinGen on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669
Sources: Other; to: Classified DEFINITIVE by ClinGen Motile Ciliopathies GCEP on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669
Sources: Other
Ciliary Dyskinesia v1.39 DNAH5 Sangavi Sivagnanasundram reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004670; Phenotypes: primary ciliary dyskinesia 3 (MONDO:0012085); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.39 DNAH17 Sangavi Sivagnanasundram gene: DNAH17 was added
gene: DNAH17 was added to Ciliary Dyskinesia. Sources: Other
Mode of inheritance for gene: DNAH17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH17 were set to https://search.clinicalgenome.org/CCID:004669
Phenotypes for gene: DNAH17 were set to spermatogenic failure 39 (MONDO:0032845)
Review for gene: DNAH17 was set to GREEN
Added comment: Classified DEFINITIVE by ClinGen on 08/09/2022 - https://search.clinicalgenome.org/CCID:004669
Sources: Other
Ciliary Dyskinesia v1.39 LRRC6 Sangavi Sivagnanasundram reviewed gene: LRRC6: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004663; Phenotypes: ; Mode of inheritance: None
Ciliary Dyskinesia v1.39 BRWD1 Zornitza Stark Tag disputed tag was added to gene: BRWD1.
Ciliary Dyskinesia v1.39 BRWD1 Zornitza Stark Classified gene: BRWD1 as Red List (low evidence)
Ciliary Dyskinesia v1.39 BRWD1 Zornitza Stark Gene: brwd1 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v1.38 BRWD1 Sangavi Sivagnanasundram reviewed gene: BRWD1: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004289; Phenotypes: primary ciliary dyskinesia MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.38 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Ciliary Dyskinesia v1.37 NME5 Achchuthan Shanmugasundram reviewed gene: NME5: Rating: GREEN; Mode of pathogenicity: None; Publications: 37957793; Phenotypes: Ciliary dyskinesia, primary, 48, without situs inversus, OMIM:620032; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.37 EFCAB1 Zornitza Stark Phenotypes for gene: EFCAB1 were changed from Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related to Ciliary dyskinesia, primary, 53, MIM# 620642
Ciliary Dyskinesia v1.36 EFCAB1 Zornitza Stark Tag new gene name tag was added to gene: EFCAB1.
Ciliary Dyskinesia v1.36 EFCAB1 Zornitza Stark reviewed gene: EFCAB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 53, MIM# 620642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.36 DAW1 Zornitza Stark Phenotypes for gene: DAW1 were changed from Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677 to Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570
Ciliary Dyskinesia v1.35 AKNA Zornitza Stark Phenotypes for gene: AKNA were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, AKNA-related
Ciliary Dyskinesia v1.34 AKNA Zornitza Stark edited their review of gene: AKNA: Changed phenotypes: Primary ciliary dyskinesia, MONDO:0016575, AKNA-related
Ciliary Dyskinesia v1.34 TUBB4B Zornitza Stark Marked gene: TUBB4B as ready
Ciliary Dyskinesia v1.34 TUBB4B Zornitza Stark Gene: tubb4b has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.34 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related
Ciliary Dyskinesia v1.33 TUBB4B Chirag Patel Classified gene: TUBB4B as Green List (high evidence)
Ciliary Dyskinesia v1.33 TUBB4B Chirag Patel Gene: tubb4b has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.32 TUBB4B Chirag Patel gene: TUBB4B was added
gene: TUBB4B was added to Ciliary Dyskinesia. Sources: Other
Mode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TUBB4B were set to Primary ciliary dyskinesia
Review for gene: TUBB4B was set to GREEN
Added comment: ESHG 2023:
De novo heterozygous TUBB4B variants found in:
-8 patients with recurrent respiratory infections (PCD phenotype), irregular corpus callosum, and dilated ventricles (suggesting motile cilia anomaly)
-3 patients with retinal dystrophy, SNHL, and PCD respiratory issues

Functional studies:
-variants showed decreased cilia number and length, and mislocalisation of dyenin motors
-mouse models had decreased cilia number and length in trachea, and reduction in cilia in choroid plexus cells leading to hydrocephaly
Sources: Other
Ciliary Dyskinesia v1.31 BRWD1 Zornitza Stark Phenotypes for gene: BRWD1 were changed from Primary ciliary dyskinesia, asthenoteratozoospermia to Ciliary dyskinesia, primary, 51, MIM# 620438
Ciliary Dyskinesia v1.30 BRWD1 Zornitza Stark edited their review of gene: BRWD1: Changed phenotypes: Ciliary dyskinesia, primary, 51, MIM# 620438
Ciliary Dyskinesia v1.30 DNAH7 Zornitza Stark Phenotypes for gene: DNAH7 were changed from non-syndromic male infertility due to sperm motility disorder (MONDO#0017173), DNAH7-related to Primary ciliary dyskinesia, MONDO:0016575, DNAH7-related
Ciliary Dyskinesia v1.29 DNAH7 Zornitza Stark reviewed gene: DNAH7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia, MONDO:0016575, DNAH7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.29 DNAH7 Seb Lunke Marked gene: DNAH7 as ready
Ciliary Dyskinesia v1.29 DNAH7 Seb Lunke Gene: dnah7 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.29 DNAH7 Seb Lunke Classified gene: DNAH7 as Green List (high evidence)
Ciliary Dyskinesia v1.29 DNAH7 Seb Lunke Gene: dnah7 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.28 DNAH7 Chern Lim gene: DNAH7 was added
gene: DNAH7 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: DNAH7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH7 were set to 34476482; 35543642
Phenotypes for gene: DNAH7 were set to non-syndromic male infertility due to sperm motility disorder (MONDO#0017173), DNAH7-related
Review for gene: DNAH7 was set to GREEN
gene: DNAH7 was marked as current diagnostic
Added comment: PMID: 34476482 (Wei et al 2021):
- Hom/chet missense DNAH7 variants in three unrelated infertile patients with idiopathic asthenozoospermia, presented with primary ciliary dyskinesia (PCD)-associated symptoms.
- Functional studies showed expression of DNAH7 in the spermatozoa from the DNAH7-defective patients was significantly decreased.

PMID: 35543642 (Gao et al 2022):
- One proband with idiopathic asthenozoospermia, presented a history of PCD-like symptoms. Hom frameshift variant predicted to cause NMD, both parents are heterozygous.
- Immunofluorescent staining showed DNAH7 signal significantly decreased or was even completely absent in the sperm from the investigated patient.
Sources: Literature
Ciliary Dyskinesia v1.28 EFCAB1 Zornitza Stark Marked gene: EFCAB1 as ready
Ciliary Dyskinesia v1.28 EFCAB1 Zornitza Stark Gene: efcab1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.28 EFCAB1 Zornitza Stark Phenotypes for gene: EFCAB1 were changed from Primary ciliary dyskinesia and heterotaxy, no OMIM # to Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related
Ciliary Dyskinesia v1.27 EFCAB1 Chirag Patel Classified gene: EFCAB1 as Green List (high evidence)
Ciliary Dyskinesia v1.27 EFCAB1 Chirag Patel Gene: efcab1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.27 EFCAB1 Chirag Patel Classified gene: EFCAB1 as Green List (high evidence)
Ciliary Dyskinesia v1.27 EFCAB1 Chirag Patel Gene: efcab1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.26 EFCAB1 Chirag Patel gene: EFCAB1 was added
gene: EFCAB1 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFCAB1 were set to PMID: 36727596
Phenotypes for gene: EFCAB1 were set to Primary ciliary dyskinesia and heterotaxy, no OMIM #
Review for gene: EFCAB1 was set to GREEN
Added comment: WES in 3 individuals with laterality defects and respiratory symptoms, identified homozygous pathogenic variants in CLXN (EFCAB1). They found Clxn expressed in mice left-right organizer. Transmission electron microscopy depicted outer dynein arm (ODA) defects in distal ciliary axonemes. Immunofluorescence microscopy revealed absence of CLXN from the ciliary axonemes, absence of the ODA components DNAH5, DNAI1 and DNAI2 from the distal axonemes, as well as mislocalization or absence of DNAH9. Additionally, CLXN is undetectable in ciliary axonemes of individuals with defects in the outer dynein arm docking (ODA-DC) machinery: ODAD1, ODAD2, ODAD3 and ODAD4. Moreover, SMED-EFCAB1-deficient planaria displayed ciliary dysmotility.
Sources: Literature
Ciliary Dyskinesia v1.25 AGR2 Zornitza Stark Phenotypes for gene: AGR2 were changed from CF-like disorder to Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233
Ciliary Dyskinesia v1.24 AGR2 Zornitza Stark edited their review of gene: AGR2: Changed phenotypes: Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233
Ciliary Dyskinesia v1.24 Zornitza Stark List of related panels changed from Ciliary dyskinesia HP:0012265 to Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205
Ciliary Dyskinesia v1.23 Zornitza Stark List of related panels changed from to Ciliary dyskinesia HP:0012265
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Marked gene: DAW1 as ready
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Classified gene: DAW1 as Green List (high evidence)
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.21 DAW1 Alison Yeung changed review comment from: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterodoxy phenotype
Sources: Literature; to: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Ciliary Dyskinesia v1.21 DAW1 Alison Yeung gene: DAW1 was added
gene: DAW1 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterodoxy phenotype
Sources: Literature
Ciliary Dyskinesia v1.20 TTC25 Zornitza Stark Publications for gene: TTC25 were set to 27486780
Ciliary Dyskinesia v1.19 TTC25 Zornitza Stark Classified gene: TTC25 as Green List (high evidence)
Ciliary Dyskinesia v1.19 TTC25 Zornitza Stark Gene: ttc25 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.18 TTC25 Zornitza Stark reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: None; Publications: 27486780, 31765523, 33715250, 33746037, 34215651; Phenotypes: Ciliary dyskinesia, primary, 35, OMIM:617092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.18 DNAH1 Ain Roesley reviewed gene: DNAH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33577779; Phenotypes: Ciliary dyskinesia, primary, 37 MIM#617577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ciliary Dyskinesia v1.18 RSPH4A Zornitza Stark Publications for gene: RSPH4A were set to 25789548; 22448264
Ciliary Dyskinesia v1.17 RSPH9 Zornitza Stark Publications for gene: RSPH9 were set to 25789548; 31285900
Ciliary Dyskinesia v1.16 RSPH3 Belinda Chong reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26073779; Phenotypes: Ciliary dyskinesia, primary, 32 MIM#616481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.16 RSPH4A Belinda Chong reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23798057, 23798057, 23798057, 25789548, 22448264; Phenotypes: Ciliary dyskinesia, primary, 11 OMIM#612649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ciliary Dyskinesia v1.16 RSPH9 Belinda Chong reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 22384920, 23993197, 19200523, 27626380; Phenotypes: Ciliary dyskinesia, primary, 12 MIM#612650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ciliary Dyskinesia v1.16 AGR2 Zornitza Stark Marked gene: AGR2 as ready
Ciliary Dyskinesia v1.16 AGR2 Zornitza Stark Gene: agr2 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.16 AGR2 Zornitza Stark Classified gene: AGR2 as Green List (high evidence)
Ciliary Dyskinesia v1.16 AGR2 Zornitza Stark Gene: agr2 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.15 AGR2 Zornitza Stark gene: AGR2 was added
gene: AGR2 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: AGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGR2 were set to 34952832
Phenotypes for gene: AGR2 were set to CF-like disorder
Review for gene: AGR2 was set to GREEN
Added comment: 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in AGR2, (1) two splice-site variants, (2) gene deletion and (3) three missense variants.
Sources: Literature
Ciliary Dyskinesia v1.14 NEK10 Zornitza Stark Phenotypes for gene: NEK10 were changed from Primary ciliary dyskinesia; bronchiectasis to Ciliary dyskinesia, primary, 44, MIM# 618781; Bronchiectasis
Ciliary Dyskinesia v1.13 NEK10 Zornitza Stark edited their review of gene: NEK10: Changed phenotypes: Ciliary dyskinesia, primary, 44, MIM# 618781
Ciliary Dyskinesia v1.13 CFAP221 Zornitza Stark Marked gene: CFAP221 as ready
Ciliary Dyskinesia v1.13 CFAP221 Zornitza Stark Gene: cfap221 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v1.13 CFAP221 Chirag Patel gene: CFAP221 was added
gene: CFAP221 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: CFAP221 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP221 were set to PMID: 31636325
Phenotypes for gene: CFAP221 were set to Primary ciliary dyskinesia
Review for gene: CFAP221 was set to RED
Added comment: WES in 1 family with 3 siblings with clinical symptoms of PCD identified compound heterozygous loss-of-function variants in CFAP221, which segregated with disease. No functional studies. Nasal epithelial cells from 1 of the subjects demonstrated slightly reduced beat frequency, however, waveform analysis revealed that the CFAP221 defective cilia beat in an aberrant circular pattern. A candidate gene in cases where PCD is suspected but cilia structure and beat frequency appear normal.
Sources: Literature
Ciliary Dyskinesia v1.12 TP73 Zornitza Stark Marked gene: TP73 as ready
Ciliary Dyskinesia v1.12 TP73 Zornitza Stark Gene: tp73 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.12 TP73 Zornitza Stark Classified gene: TP73 as Green List (high evidence)
Ciliary Dyskinesia v1.12 TP73 Zornitza Stark Gene: tp73 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.11 TP73 Zornitza Stark gene: TP73 was added
gene: TP73 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to 31130284; 34077761
Phenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466
Review for gene: TP73 was set to GREEN
Added comment: 7 unrelated families reported. In vitro ciliogenesis experiments demonstrated that epithelial cells from TP73 variant carriers had reduced number of ciliated cells and shortened cilia resulting in abnormal ciliary clearance of the airways compared to healthy controls.

Clinical features included recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood. Affected individuals also had neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum.
Sources: Literature
Ciliary Dyskinesia v1.10 STK36 Zornitza Stark Phenotypes for gene: STK36 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 46, MIM# 619436
Ciliary Dyskinesia v1.9 STK36 Zornitza Stark edited their review of gene: STK36: Changed phenotypes: Ciliary dyskinesia, primary, 46, MIM# 619436
Ciliary Dyskinesia v1.9 SCNN1B Zornitza Stark Classified gene: SCNN1B as Amber List (moderate evidence)
Ciliary Dyskinesia v1.9 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v1.8 SCNN1B Zornitza Stark reviewed gene: SCNN1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliary Dyskinesia v1.8 SCNN1A Zornitza Stark Phenotypes for gene: SCNN1A were changed from Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021) to Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021); MONDO:0013087
Ciliary Dyskinesia v1.7 SCNN1A Zornitza Stark Mode of inheritance for gene: SCNN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v1.6 SCNN1A Zornitza Stark Classified gene: SCNN1A as Amber List (moderate evidence)
Ciliary Dyskinesia v1.6 SCNN1A Zornitza Stark Gene: scnn1a has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v1.5 SCNN1A Zornitza Stark reviewed gene: SCNN1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 19462466; Phenotypes: Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021, MONDO:0013087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v1.5 DNAJB13 Zornitza Stark Classified gene: DNAJB13 as Green List (high evidence)
Ciliary Dyskinesia v1.5 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.4 DNAJB13 Ain Roesley reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 34 617091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.4 BRWD1 Zornitza Stark Marked gene: BRWD1 as ready
Ciliary Dyskinesia v1.4 BRWD1 Zornitza Stark Gene: brwd1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.4 BRWD1 Zornitza Stark Classified gene: BRWD1 as Green List (high evidence)
Ciliary Dyskinesia v1.4 BRWD1 Zornitza Stark Gene: brwd1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.3 BRWD1 Zornitza Stark gene: BRWD1 was added
gene: BRWD1 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: BRWD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRWD1 were set to 33389130
Phenotypes for gene: BRWD1 were set to Primary ciliary dyskinesia, asthenoteratozoospermia
Review for gene: BRWD1 was set to GREEN
Added comment: Biallelic missense variants reported in 3 unrelated individuals. Apart from asthenoteratozoospermia, all 3 had PCD or "PCD-like" symptoms of reccurring airway infections, bronchiectasis, and rhinosinusitis. One individual had situs inversus. Studies on cells from one indivdidual showed abnormal respiratory cilia structure. BRWD1 staining was absent from respiratory cilia in this individual (present in controls).
Sources: Literature
Ciliary Dyskinesia v1.2 DNAH8 Zornitza Stark Phenotypes for gene: DNAH8 were changed from Asthenozoospermia; primary ciliary dyskinesia to Spermatogenic failure 46, MIM#619095; Asthenozoospermia; primary ciliary dyskinesia
Ciliary Dyskinesia v1.1 FOXJ1 Zornitza Stark Phenotypes for gene: FOXJ1 were changed from hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry to Ciliary dyskinesia, primary, 43, MIM# 618699; hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Ciliary Dyskinesia v1.0 FOXJ1 Zornitza Stark edited their review of gene: FOXJ1: Changed phenotypes: Ciliary dyskinesia, primary, 43, MIM# 618699, hydrocephalus, chronic destructive airway disease, randomization of left/right body asymmetry
Ciliary Dyskinesia v1.0 Zornitza Stark promoted panel to version 1.0
Ciliary Dyskinesia v0.185 SPAG1 Zornitza Stark changed review comment from: At least 5 unrelated families reported.; to: At least 15 unrelated families reported.
Ciliary Dyskinesia v0.185 SPAG1 Zornitza Stark Publications for gene: SPAG1 were set to 24055112
Ciliary Dyskinesia v0.184 SPAG1 Zornitza Stark reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32622824, 32502479, 24055112; Phenotypes: Ciliary dyskinesia, primary, 28 (MIM#615505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.184 HYDIN Zornitza Stark Marked gene: HYDIN as ready
Ciliary Dyskinesia v0.184 HYDIN Zornitza Stark Gene: hydin has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.184 HYDIN Zornitza Stark Phenotypes for gene: HYDIN were changed from to Ciliary dyskinesia, primary, 5 (MIM#608647)
Ciliary Dyskinesia v0.183 HYDIN Zornitza Stark Publications for gene: HYDIN were set to
Ciliary Dyskinesia v0.182 HYDIN Zornitza Stark Mode of inheritance for gene: HYDIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.181 DNAI2 Zornitza Stark Marked gene: DNAI2 as ready
Ciliary Dyskinesia v0.181 DNAI2 Zornitza Stark Gene: dnai2 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.181 LRRC6 Zornitza Stark Marked gene: LRRC6 as ready
Ciliary Dyskinesia v0.181 LRRC6 Zornitza Stark Gene: lrrc6 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.181 LRRC6 Zornitza Stark Phenotypes for gene: LRRC6 were changed from to Ciliary dyskinesia, primary, 19, MIM# 614935
Ciliary Dyskinesia v0.180 LRRC6 Zornitza Stark Publications for gene: LRRC6 were set to
Ciliary Dyskinesia v0.179 LRRC6 Zornitza Stark Mode of inheritance for gene: LRRC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.178 LRRC6 Zornitza Stark reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23122589, 23891469, 32622824, 29511670; Phenotypes: Ciliary dyskinesia, primary, 19, MIM# 614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.178 GAS8 Zornitza Stark Marked gene: GAS8 as ready
Ciliary Dyskinesia v0.178 GAS8 Zornitza Stark Gene: gas8 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.178 GAS8 Zornitza Stark Phenotypes for gene: GAS8 were changed from to Ciliary dyskinesia, primary, 33, mIM# 616726
Ciliary Dyskinesia v0.177 GAS8 Zornitza Stark Publications for gene: GAS8 were set to
Ciliary Dyskinesia v0.176 GAS8 Zornitza Stark Mode of inheritance for gene: GAS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.175 GAS8 Zornitza Stark reviewed gene: GAS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26387594, 27120127; Phenotypes: Ciliary dyskinesia, primary, 33, mIM# 616726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.175 DNAI2 Zornitza Stark Phenotypes for gene: DNAI2 were changed from to Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444
Ciliary Dyskinesia v0.174 DNAI2 Zornitza Stark Publications for gene: DNAI2 were set to
Ciliary Dyskinesia v0.173 DNAI2 Zornitza Stark Mode of inheritance for gene: DNAI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.172 DNAI2 Zornitza Stark changed review comment from: Three unrelated families reported.; to: Four unrelated families reported.
Ciliary Dyskinesia v0.172 DNAI2 Zornitza Stark reviewed gene: DNAI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18950741, 23261302; Phenotypes: Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.172 DNAI1 Zornitza Stark Marked gene: DNAI1 as ready
Ciliary Dyskinesia v0.172 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.172 DNAI1 Zornitza Stark Phenotypes for gene: DNAI1 were changed from to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400
Ciliary Dyskinesia v0.171 DNAI1 Zornitza Stark Publications for gene: DNAI1 were set to
Ciliary Dyskinesia v0.170 DNAI1 Zornitza Stark Mode of inheritance for gene: DNAI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.169 DNAI1 Zornitza Stark reviewed gene: DNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10577904, 11231901, 32502479, 31765523, 30622330; Phenotypes: Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.169 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Ciliary Dyskinesia v0.169 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.169 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Ciliary Dyskinesia v0.168 DNAH11 Zornitza Stark Publications for gene: DNAH11 were set to
Ciliary Dyskinesia v0.167 DNAH11 Zornitza Stark Mode of inheritance for gene: DNAH11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.166 DNAH11 Zornitza Stark reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 12142464, 18022865, 22102620, 32633470, 31879361, 31765523, 31040315; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.166 DNAAF5 Zornitza Stark Marked gene: DNAAF5 as ready
Ciliary Dyskinesia v0.166 DNAAF5 Zornitza Stark Gene: dnaaf5 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.166 DNAAF5 Zornitza Stark Phenotypes for gene: DNAAF5 were changed from to Ciliary dyskinesia, primary, 18, MIM# 614874
Ciliary Dyskinesia v0.165 DNAAF5 Zornitza Stark Publications for gene: DNAAF5 were set to
Ciliary Dyskinesia v0.164 DNAAF5 Zornitza Stark Mode of inheritance for gene: DNAAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.163 DNAAF5 Zornitza Stark reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23040496, 29363216, 25232951; Phenotypes: Ciliary dyskinesia, primary, 18, MIM# 614874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.163 DNAAF3 Zornitza Stark Marked gene: DNAAF3 as ready
Ciliary Dyskinesia v0.163 DNAAF3 Zornitza Stark Gene: dnaaf3 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.163 DNAAF3 Zornitza Stark Phenotypes for gene: DNAAF3 were changed from to Ciliary dyskinesia, primary, 2, MIM# 606763
Ciliary Dyskinesia v0.162 DNAAF3 Zornitza Stark Publications for gene: DNAAF3 were set to
Ciliary Dyskinesia v0.161 DNAAF3 Zornitza Stark Mode of inheritance for gene: DNAAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.160 DNAAF3 Zornitza Stark reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22387996, 32622824, 31186518; Phenotypes: Ciliary dyskinesia, primary, 2, MIM# 606763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.160 DNAAF2 Zornitza Stark Marked gene: DNAAF2 as ready
Ciliary Dyskinesia v0.160 DNAAF2 Zornitza Stark Gene: dnaaf2 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.160 DNAAF2 Zornitza Stark Phenotypes for gene: DNAAF2 were changed from to Ciliary dyskinesia, primary, 10, MIM# 612518
Ciliary Dyskinesia v0.159 DNAAF2 Zornitza Stark Publications for gene: DNAAF2 were set to
Ciliary Dyskinesia v0.158 DNAAF2 Zornitza Stark Mode of inheritance for gene: DNAAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.157 DNAAF2 Zornitza Stark reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19052621, 32638265, 31107948; Phenotypes: Ciliary dyskinesia, primary, 10, MIM# 612518; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.157 DNAAF1 Zornitza Stark Marked gene: DNAAF1 as ready
Ciliary Dyskinesia v0.157 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.157 DNAAF1 Zornitza Stark Phenotypes for gene: DNAAF1 were changed from to Ciliary dyskinesia, primary, 13, MIM# 613193
Ciliary Dyskinesia v0.156 DNAAF1 Zornitza Stark Publications for gene: DNAAF1 were set to
Ciliary Dyskinesia v0.155 DNAAF1 Zornitza Stark Mode of inheritance for gene: DNAAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.154 DNAAF1 Zornitza Stark reviewed gene: DNAAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19944400, 19944405, 32502479, 29228333, 27261005; Phenotypes: Ciliary dyskinesia, primary, 13, MIM# 613193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.154 CCNO Zornitza Stark Marked gene: CCNO as ready
Ciliary Dyskinesia v0.154 CCNO Zornitza Stark Gene: ccno has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.154 CCNO Zornitza Stark Phenotypes for gene: CCNO were changed from to Ciliary dyskinesia, primary, 29, MIM# 615872
Ciliary Dyskinesia v0.153 CCNO Zornitza Stark Publications for gene: CCNO were set to
Ciliary Dyskinesia v0.152 CCNO Zornitza Stark Mode of inheritance for gene: CCNO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.151 CCNO Zornitza Stark reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: None; Publications: 24747639, 31765523, 28801648; Phenotypes: Ciliary dyskinesia, primary, 29, MIM# 615872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.151 CCDC40 Zornitza Stark Marked gene: CCDC40 as ready
Ciliary Dyskinesia v0.151 CCDC40 Zornitza Stark Gene: ccdc40 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.151 CCDC40 Zornitza Stark Phenotypes for gene: CCDC40 were changed from to Ciliary dyskinesia, primary, 15, MIM#613808
Ciliary Dyskinesia v0.150 CCDC40 Zornitza Stark Publications for gene: CCDC40 were set to
Ciliary Dyskinesia v0.149 CCDC40 Zornitza Stark Mode of inheritance for gene: CCDC40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.148 CCDC40 Zornitza Stark reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131974, 23255504, 31879361, 31765523, 31650533; Phenotypes: Ciliary dyskinesia, primary, 15, MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.148 CCDC39 Zornitza Stark Marked gene: CCDC39 as ready
Ciliary Dyskinesia v0.148 CCDC39 Zornitza Stark Gene: ccdc39 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.148 CCDC39 Zornitza Stark Phenotypes for gene: CCDC39 were changed from to Ciliary dyskinesia, primary, 14, MIM# 613807
Ciliary Dyskinesia v0.147 CCDC39 Zornitza Stark Publications for gene: CCDC39 were set to
Ciliary Dyskinesia v0.146 CCDC39 Zornitza Stark Mode of inheritance for gene: CCDC39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.145 CCDC39 Zornitza Stark reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131972, 23255504; Phenotypes: Ciliary dyskinesia, primary, 14, MIM# 613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.145 CCDC151 Zornitza Stark Marked gene: CCDC151 as ready
Ciliary Dyskinesia v0.145 CCDC151 Zornitza Stark Gene: ccdc151 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.145 CCDC151 Zornitza Stark Phenotypes for gene: CCDC151 were changed from to Ciliary dyskinesia, primary, 30, MIM# 616037
Ciliary Dyskinesia v0.144 CCDC151 Zornitza Stark Publications for gene: CCDC151 were set to
Ciliary Dyskinesia v0.143 CCDC151 Zornitza Stark Mode of inheritance for gene: CCDC151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.142 CCDC151 Zornitza Stark reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192045, 25224326, 32490514, 32286033, 30504913; Phenotypes: Ciliary dyskinesia, primary, 30, MIM# 616037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.142 CCDC114 Zornitza Stark Marked gene: CCDC114 as ready
Ciliary Dyskinesia v0.142 CCDC114 Zornitza Stark Gene: ccdc114 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.142 CCDC114 Zornitza Stark Phenotypes for gene: CCDC114 were changed from Ciliary dyskinesia, primary, 20, MIM# 615067 to Ciliary dyskinesia, primary, 20, MIM# 615067
Ciliary Dyskinesia v0.141 CCDC114 Zornitza Stark Phenotypes for gene: CCDC114 were changed from to Ciliary dyskinesia, primary, 20, MIM# 615067
Ciliary Dyskinesia v0.140 CCDC114 Zornitza Stark Publications for gene: CCDC114 were set to
Ciliary Dyskinesia v0.139 CCDC114 Zornitza Stark Mode of inheritance for gene: CCDC114 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.138 CCDC114 Zornitza Stark reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261303, 23261302, 32855706, 23506398; Phenotypes: Ciliary dyskinesia, primary, 20, MIM# 615067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.137 CCDC103 Zornitza Stark Tag founder tag was added to gene: CCDC103.
Ciliary Dyskinesia v0.137 CCDC103 Zornitza Stark Marked gene: CCDC103 as ready
Ciliary Dyskinesia v0.137 CCDC103 Zornitza Stark Gene: ccdc103 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.137 CCDC103 Zornitza Stark Phenotypes for gene: CCDC103 were changed from to Ciliary dyskinesia, primary, 17, MIM# 614679
Ciliary Dyskinesia v0.136 CCDC103 Zornitza Stark Publications for gene: CCDC103 were set to
Ciliary Dyskinesia v0.135 CCDC103 Zornitza Stark Mode of inheritance for gene: CCDC103 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.134 CCDC103 Zornitza Stark reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581229, 32447765, 31858719, 28790179; Phenotypes: Ciliary dyskinesia, primary, 17, MIM# 614679; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.134 DNAAF4 Zornitza Stark Tag SV/CNV tag was added to gene: DNAAF4.
Tag founder tag was added to gene: DNAAF4.
Ciliary Dyskinesia v0.134 DNAAF4 Zornitza Stark Publications for gene: DNAAF4 were set to
Ciliary Dyskinesia v0.133 DNAAF4 Zornitza Stark changed review comment from: Note there is a common 3.5kb affecting exon 7, possible founder effect.; to: Well established gene-disease association, multiple families and animal model. Note there is a common 3.5kb affecting exon 7, possible founder effect.
Ciliary Dyskinesia v0.133 DNAAF4 Zornitza Stark edited their review of gene: DNAAF4: Changed publications: 23872636
Ciliary Dyskinesia v0.133 DNAAF4 Zornitza Stark Marked gene: DNAAF4 as ready
Ciliary Dyskinesia v0.133 DNAAF4 Zornitza Stark Gene: dnaaf4 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.133 DNAAF4 Zornitza Stark Phenotypes for gene: DNAAF4 were changed from to Ciliary dyskinesia, primary, 25, MIM# 615482
Ciliary Dyskinesia v0.132 DNAAF4 Zornitza Stark Mode of inheritance for gene: DNAAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.131 DNAAF4 Zornitza Stark reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 25, MIM# 615482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.131 AKNA Zornitza Stark reviewed gene: AKNA: Rating: RED; Mode of pathogenicity: None; Publications: 32367404; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.131 ITCH Zornitza Stark Publications for gene: ITCH were set to 20170897
Ciliary Dyskinesia v0.130 ITCH Zornitza Stark edited their review of gene: ITCH: Changed publications: 20170897, 32367404
Ciliary Dyskinesia v0.130 GOLGA3 Zornitza Stark Publications for gene: GOLGA3 were set to PMID: 23495255
Ciliary Dyskinesia v0.129 GOLGA3 Zornitza Stark Marked gene: GOLGA3 as ready
Ciliary Dyskinesia v0.129 GOLGA3 Zornitza Stark Gene: golga3 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.129 GOLGA3 Zornitza Stark Classified gene: GOLGA3 as Red List (low evidence)
Ciliary Dyskinesia v0.129 GOLGA3 Zornitza Stark Gene: golga3 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.128 AKNA Seb Lunke Marked gene: AKNA as ready
Ciliary Dyskinesia v0.128 AKNA Seb Lunke Gene: akna has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.128 AKNA Seb Lunke Classified gene: AKNA as Red List (low evidence)
Ciliary Dyskinesia v0.128 AKNA Seb Lunke Gene: akna has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.127 GOLGA3 Elena Savva gene: GOLGA3 was added
gene: GOLGA3 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: GOLGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOLGA3 were set to PMID: 23495255
Phenotypes for gene: GOLGA3 were set to Primary ciliary dyskinesia
Review for gene: GOLGA3 was set to RED
Added comment: https://link.springer.com/article/10.1007/s00439-020-02170-2
Two siblings with a homozygous missense and PCD

PMID: 23495255; null mice have failed spermatogenesis
Sources: Literature
Ciliary Dyskinesia v0.127 ITCH Zornitza Stark Marked gene: ITCH as ready
Ciliary Dyskinesia v0.127 ITCH Zornitza Stark Gene: itch has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.127 ITCH Zornitza Stark Publications for gene: ITCH were set to
Ciliary Dyskinesia v0.126 ITCH Zornitza Stark Classified gene: ITCH as Red List (low evidence)
Ciliary Dyskinesia v0.126 ITCH Zornitza Stark Gene: itch has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.125 ITCH Zornitza Stark reviewed gene: ITCH: Rating: RED; Mode of pathogenicity: None; Publications: 20170897; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism 613385, primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.125 AKNA Elena Savva gene: AKNA was added
gene: AKNA was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: AKNA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AKNA were set to PMID: 21606955
Phenotypes for gene: AKNA were set to Primary ciliary dyskinesia
Review for gene: AKNA was set to RED
Added comment: https://link.springer.com/article/10.1007/s00439-020-02170-2
Two siblings with homozygous PTCs with PCD. Carrier parents and mutation negative siblings (5) was normal.

PMID: 21606955: Null mice have neonatal death with systemic inflammation and alveolar loss
Sources: Literature
Ciliary Dyskinesia v0.125 ITCH Elena Savva gene: ITCH was added
gene: ITCH was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITCH were set to Autoimmune disease, multisystem, with facial dysmorphism 613385; primary ciliary dyskinesia
Review for gene: ITCH was set to RED
Added comment: https://link.springer.com/article/10.1007/s00439-020-02170-2

Single patient with biallelic start-loss variant and primary ciliary dyskinesia
Sources: Literature
Ciliary Dyskinesia v0.125 CFAP57 Zornitza Stark Phenotypes for gene: CFAP57 were changed from to Van der Woude Syndrome; Primary ciliary dyskinesia
Ciliary Dyskinesia v0.124 CFAP57 Zornitza Stark Publications for gene: CFAP57 were set to
Ciliary Dyskinesia v0.123 CFAP57 Elena Savva edited their review of gene: CFAP57: Added comment: Gene not in PubMed but recently published in bioRxiv in single patient with hom nonsense variants and Primary ciliary dyskinesia. Some functional data provided.

PMID: 21574244 - patient with a heterozygous missense and Van der Woude Syndrome. Classed in OMIM as a VUS.

PMID: 32764743 - one homozygous patient p.(Arg588*) w/ PCD - variant results in the skipping of exon 11 (58 amino acids), which may be due to disruption of an exonic splicing enhancer. Functional studies on Chlamydomonas animal model is defective. Potentially the same patient as bioRxiv; Changed publications: PMID: 21574244, 32764743
Ciliary Dyskinesia v0.123 GAS2L2 Zornitza Stark Classified gene: GAS2L2 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.123 GAS2L2 Zornitza Stark Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.121 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from Joubert syndrome 10, MIM 300804; Orofaciodigital syndrome I, MIM 311200; Simpson-Golabi-Behmel syndrome, type 2, MIM 300209 to Joubert syndrome 10, MIM 300804; Orofaciodigital syndrome I, MIM 311200; Simpson-Golabi-Behmel syndrome, type 2, MIM 300209; Primary ciliary dyskinesia
Ciliary Dyskinesia v0.120 OFD1 Zornitza Stark Classified gene: OFD1 as Green List (high evidence)
Ciliary Dyskinesia v0.120 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.119 OFD1 Zornitza Stark changed review comment from: The conditions associated with this gene are not primary ciliary dyskinesias. Gene is appropriate for Ciliopathy panel. However, note 3 individuals reported with PCD phenotype.; to: The conditions associated with this gene are not primary ciliary dyskinesias. Gene is appropriate for Ciliopathy panel. However, note 7 individuals reported with PCD phenotype.
Ciliary Dyskinesia v0.119 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed rating: GREEN
Ciliary Dyskinesia v0.119 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed publications: 31366608, 31373179
Ciliary Dyskinesia v0.119 OFD1 Zornitza Stark Classified gene: OFD1 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.119 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.118 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed publications: 31373179
Ciliary Dyskinesia v0.118 OFD1 Zornitza Stark changed review comment from: The conditions associated with this gene are not primary ciliary dyskinesias. Gene is appropriate for Ciliopathy panel.; to: The conditions associated with this gene are not primary ciliary dyskinesias. Gene is appropriate for Ciliopathy panel. However, note 3 individuals reported with PCD phenotype.
Ciliary Dyskinesia v0.118 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed phenotypes: Retinitis pigmentosa 23, MIM# 300424, Joubert syndrome 10, MIM# 300804, Orofaciodigital syndrome I, MIM# 311200, Primary ciliary dyskinesia
Ciliary Dyskinesia v0.118 OFD1 Zornitza Stark edited their review of gene: OFD1: Changed rating: AMBER
Ciliary Dyskinesia v0.118 CFAP74 Zornitza Stark Marked gene: CFAP74 as ready
Ciliary Dyskinesia v0.118 CFAP74 Zornitza Stark Gene: cfap74 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.118 CFAP74 Zornitza Stark Classified gene: CFAP74 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.118 CFAP74 Zornitza Stark Gene: cfap74 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.117 CFAP74 Zornitza Stark gene: CFAP74 was added
gene: CFAP74 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: CFAP74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP74 were set to 32555313
Phenotypes for gene: CFAP74 were set to Primary ciliary dyskinesia; infertility
Review for gene: CFAP74 was set to AMBER
Added comment: Two unrelated individuals with compound het missense variants reported.
Sources: Literature
Ciliary Dyskinesia v0.116 NME5 Zornitza Stark Marked gene: NME5 as ready
Ciliary Dyskinesia v0.116 NME5 Zornitza Stark Added comment: Comment when marking as ready: Single family and animal model, upgrade to Amber.
Ciliary Dyskinesia v0.116 NME5 Zornitza Stark Gene: nme5 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.116 NME5 Zornitza Stark Classified gene: NME5 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.116 NME5 Zornitza Stark Gene: nme5 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.115 NME5 Chirag Patel Mode of inheritance for gene: NME5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.115 NME5 Chirag Patel Mode of inheritance for gene: NME5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.114 NME5 Chirag Patel Deleted their comment
Ciliary Dyskinesia v0.114 NME5 Chirag Patel edited their review of gene: NME5: Added comment: One patient with PCD with situs solitus, with radial spokes (RS) and central pair (CP) defects. Patient had a homozygous nonsense variant in NME5, with parents as carriers. Morpholino knockdown of nme5 in zebrafish embryos resulted in motile cilia defects with phenotypes compatible with ciliopathy.
Sources: Literature; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.114 NME5 Chirag Patel gene: NME5 was added
gene: NME5 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: NME5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NME5 were set to PMID: 32185794
Phenotypes for gene: NME5 were set to Primary ciliary dyskinesia
Review for gene: NME5 was set to RED
Added comment: One patient with PCD with situs solitus, with radial spokes (RS) and central pair (CP) defects. Patient had a homozygous nonsense variant in NME5, with parents as carriers. Morpholino knockdown of nme5 in zebrafish embryos resulted in motile cilia defects with phenotypes compatible with ciliopathy.
Sources: Literature
Ciliary Dyskinesia v0.113 HYDIN Crystle Lee reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23022101, 23849777, 28441829, 31116566; Phenotypes: Ciliary dyskinesia, primary, 5 (MIM#608647); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.113 DNAL1 Zornitza Stark Tag founder tag was added to gene: DNAL1.
Ciliary Dyskinesia v0.113 DNAL1 Zornitza Stark changed review comment from: Single family reported with homozygous missense variant, some functional data.; to: Two Bedouin families reported with same homozygous missense variant (founder), some functional data.
Ciliary Dyskinesia v0.113 DNAL1 Zornitza Stark Marked gene: DNAL1 as ready
Ciliary Dyskinesia v0.113 DNAL1 Zornitza Stark Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.113 DNAL1 Zornitza Stark Phenotypes for gene: DNAL1 were changed from to Ciliary dyskinesia, primary, 16, MIM# 614017
Ciliary Dyskinesia v0.112 DNAL1 Zornitza Stark Publications for gene: DNAL1 were set to
Ciliary Dyskinesia v0.111 DNAL1 Zornitza Stark Mode of inheritance for gene: DNAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.110 DNAL1 Zornitza Stark Classified gene: DNAL1 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.110 DNAL1 Zornitza Stark Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.109 DNAL1 Zornitza Stark reviewed gene: DNAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21496787; Phenotypes: Ciliary dyskinesia, primary, 16, MIM# 614017; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.109 DNAH9 Zornitza Stark Marked gene: DNAH9 as ready
Ciliary Dyskinesia v0.109 DNAH9 Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.109 DNAH9 Zornitza Stark Phenotypes for gene: DNAH9 were changed from to Ciliary dyskinesia, primary, 40, MIM# 618300
Ciliary Dyskinesia v0.108 DNAH9 Zornitza Stark Publications for gene: DNAH9 were set to
Ciliary Dyskinesia v0.107 DNAH9 Zornitza Stark Mode of inheritance for gene: DNAH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.106 DNAH9 Zornitza Stark reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30471717, 30471718; Phenotypes: Ciliary dyskinesia, primary, 40, MIM# 618300; Mode of inheritance: None
Ciliary Dyskinesia v0.106 MCIDAS Zornitza Stark Marked gene: MCIDAS as ready
Ciliary Dyskinesia v0.106 MCIDAS Zornitza Stark Gene: mcidas has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.106 MCIDAS Zornitza Stark Phenotypes for gene: MCIDAS were changed from to Ciliary dyskinesia, primary, 42 (MIM#618695)
Ciliary Dyskinesia v0.105 MCIDAS Zornitza Stark Publications for gene: MCIDAS were set to
Ciliary Dyskinesia v0.104 MCIDAS Zornitza Stark Mode of inheritance for gene: MCIDAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.103 MCIDAS Crystle Lee reviewed gene: MCIDAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25048963; Phenotypes: Ciliary dyskinesia, primary, 42 (MIM#618695); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.103 RSPH1 Zornitza Stark Marked gene: RSPH1 as ready
Ciliary Dyskinesia v0.103 RSPH1 Zornitza Stark Gene: rsph1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.103 RSPH1 Zornitza Stark Phenotypes for gene: RSPH1 were changed from to Ciliary dyskinesia, primary, 24 (MIM#615481)
Ciliary Dyskinesia v0.102 RSPH1 Zornitza Stark Publications for gene: RSPH1 were set to
Ciliary Dyskinesia v0.101 RSPH1 Zornitza Stark Mode of inheritance for gene: RSPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.100 RSPH1 Crystle Lee reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993197; Phenotypes: Ciliary dyskinesia, primary, 24 (MIM#615481); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.99 STK36 Zornitza Stark Marked gene: STK36 as ready
Ciliary Dyskinesia v0.99 STK36 Zornitza Stark Gene: stk36 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.99 STK36 Zornitza Stark gene: STK36 was added
gene: STK36 was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: STK36 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STK36 were set to 28543983
Phenotypes for gene: STK36 were set to Primary ciliary dyskinesia
Review for gene: STK36 was set to RED
Added comment: Single individual reported with homozygous LoF variant, PCD and situs solitus. Some functional data.
Sources: Expert list
Ciliary Dyskinesia v0.98 RPGR Zornitza Stark Marked gene: RPGR as ready
Ciliary Dyskinesia v0.98 RPGR Zornitza Stark Gene: rpgr has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.98 RPGR Zornitza Stark Phenotypes for gene: RPGR were changed from to Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455
Ciliary Dyskinesia v0.97 RPGR Zornitza Stark Publications for gene: RPGR were set to
Ciliary Dyskinesia v0.96 RPGR Zornitza Stark Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliary Dyskinesia v0.95 RPGR Zornitza Stark reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094550, 12920075, 16055928; Phenotypes: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliary Dyskinesia v0.95 GAS2L2 Zornitza Stark Classified gene: GAS2L2 as Green List (high evidence)
Ciliary Dyskinesia v0.95 GAS2L2 Zornitza Stark Gene: gas2l2 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.94 GAS2L2 Zornitza Stark Deleted their comment
Ciliary Dyskinesia v0.94 GAS2L2 Zornitza Stark edited their review of gene: GAS2L2: Added comment: Two families and functional evidence.; Changed rating: GREEN; Changed publications: 30665704; Changed phenotypes: Ciliary dyskinesia, primary, 41 (MIM # 618449); Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.94 DNAH8 Zornitza Stark Classified gene: DNAH8 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.94 DNAH8 Zornitza Stark Gene: dnah8 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.93 DNAH8 Zornitza Stark Marked gene: DNAH8 as ready
Ciliary Dyskinesia v0.93 DNAH8 Zornitza Stark Gene: dnah8 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.93 DNAH8 Zornitza Stark Phenotypes for gene: DNAH8 were changed from to Asthenozoospermia; primary ciliary dyskinesia
Ciliary Dyskinesia v0.92 DNAH8 Zornitza Stark Publications for gene: DNAH8 were set to
Ciliary Dyskinesia v0.91 DNAH8 Zornitza Stark Mode of inheritance for gene: DNAH8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.90 NFKB1 Zornitza Stark Marked gene: NFKB1 as ready
Ciliary Dyskinesia v0.90 NFKB1 Zornitza Stark Added comment: Comment when marking as ready: Not a PCD, but overlapping clinical features.
Ciliary Dyskinesia v0.90 NFKB1 Zornitza Stark Gene: nfkb1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.90 NFKB1 Zornitza Stark Classified gene: NFKB1 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.90 NFKB1 Zornitza Stark Gene: nfkb1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.89 NFKB2 Zornitza Stark Marked gene: NFKB2 as ready
Ciliary Dyskinesia v0.89 NFKB2 Zornitza Stark Added comment: Comment when marking as ready: Not a PCD, but can have overlapping presenting features.
Ciliary Dyskinesia v0.89 NFKB2 Zornitza Stark Gene: nfkb2 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.89 NFKB2 Zornitza Stark Classified gene: NFKB2 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.89 NFKB2 Zornitza Stark Gene: nfkb2 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.88 NME8 Zornitza Stark Marked gene: NME8 as ready
Ciliary Dyskinesia v0.88 NME8 Zornitza Stark Gene: nme8 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.88 NME8 Zornitza Stark Phenotypes for gene: NME8 were changed from to Ciliary dyskinesia, primary, 6, MIM# 610852
Ciliary Dyskinesia v0.87 NME8 Zornitza Stark Publications for gene: NME8 were set to
Ciliary Dyskinesia v0.86 NME8 Zornitza Stark Mode of inheritance for gene: NME8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.85 NME8 Zornitza Stark Classified gene: NME8 as Red List (low evidence)
Ciliary Dyskinesia v0.85 NME8 Zornitza Stark Gene: nme8 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.84 PIK3CD Zornitza Stark Marked gene: PIK3CD as ready
Ciliary Dyskinesia v0.84 PIK3CD Zornitza Stark Added comment: Comment when marking as ready: Include as overlapping phenotype.
Ciliary Dyskinesia v0.84 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.84 PIK3CD Zornitza Stark Classified gene: PIK3CD as Amber List (moderate evidence)
Ciliary Dyskinesia v0.84 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.83 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Ciliary Dyskinesia v0.83 PIK3R1 Zornitza Stark Added comment: Comment when marking as ready: Can cause bronchiectasis with limited immunological findings, include as an overlapping phenotype on this panel.
Ciliary Dyskinesia v0.83 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.83 PIK3R1 Zornitza Stark Classified gene: PIK3R1 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.83 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.82 PIK3R1 Zornitza Stark Classified gene: PIK3R1 as Red List (low evidence)
Ciliary Dyskinesia v0.82 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.81 DNAH6 Zornitza Stark Marked gene: DNAH6 as ready
Ciliary Dyskinesia v0.81 DNAH6 Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.81 DNAH6 Zornitza Stark Mode of inheritance for gene: DNAH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.80 DNAH6 Zornitza Stark Classified gene: DNAH6 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.80 DNAH6 Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.79 DNAH6 Zornitza Stark reviewed gene: DNAH6: Rating: AMBER; Mode of pathogenicity: None; Publications: 26918822; Phenotypes: Heterotaxy, male infertility; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.79 CFTR Zornitza Stark Marked gene: CFTR as ready
Ciliary Dyskinesia v0.79 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.79 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from Disseminated bronchiectasis to Cystic fibrosis; bronchiectasis
Ciliary Dyskinesia v0.78 CFTR Zornitza Stark Classified gene: CFTR as Green List (high evidence)
Ciliary Dyskinesia v0.78 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.77 CFAP54 Zornitza Stark Marked gene: CFAP54 as ready
Ciliary Dyskinesia v0.77 CFAP54 Zornitza Stark Gene: cfap54 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.77 CFAP54 Zornitza Stark Classified gene: CFAP54 as Red List (low evidence)
Ciliary Dyskinesia v0.77 CFAP54 Zornitza Stark Gene: cfap54 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.76 PIK3R1 Elena Savva gene: PIK3R1 was added
gene: PIK3R1 was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PIK3R1 were set to PMID: 30018075; 31111319
Phenotypes for gene: PIK3R1 were set to ?Agammaglobulinemia 7, autosomal recessive 615214; Immunodeficiency 36 616005; SHORT syndrome 269880
Mode of pathogenicity for gene: PIK3R1 was set to Other
Review for gene: PIK3R1 was set to AMBER
Added comment: PMID: 30018075/OMIM reports gain of function as a proven mechanism, where variants cause increased phosphorylation of a target protein AKT and hyperactivation of PI3K-dependent signaling pathway

PMID: 31111319 - Review of >170 patients found where respiratory tract infections are a common feature

No other phenotypes reports reminiscent of PCD
Sources: Expert list
Ciliary Dyskinesia v0.76 PIK3CD Elena Savva gene: PIK3CD was added
gene: PIK3CD was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIK3CD were set to PMID: 30018075; 31111319
Phenotypes for gene: PIK3CD were set to Immunodeficiency 14 615513
Mode of pathogenicity for gene: PIK3CD was set to Other
Review for gene: PIK3CD was set to AMBER
Added comment: PMID: 30018075/OMIM reports gain of function as a proven mechanism, where variants cause increased phosphorylation of a target protein AKT and hyperactivation of PI3K-dependent signaling pathway

PMID: 31111319 - Review of >170 patients found where respiratory tract infections are a common feature

No other phenotypes reports reminiscent of PCD
Sources: Expert list
Ciliary Dyskinesia v0.76 NME8 Elena Savva reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 17360648; Phenotypes: Ciliary dyskinesia, primary, 6 610852; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.76 NFKB2 Elena Savva gene: NFKB2 was added
gene: NFKB2 was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFKB2 were set to PMID: 30941118
Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 615577
Review for gene: NFKB2 was set to AMBER
Added comment: PMID: 30941118 - reports 11 unrelated families (15 patients), four families carry the recurring nonsense p.Arg853* mutation. Many patients report recurrent upper and lower respiratory infections (>80%), less commonly bronchiectasis (57%)

Summary: really doesnt seem like a PCD gene but some features are shared.
Sources: Expert list
Ciliary Dyskinesia v0.76 NFKB1 Elena Savva gene: NFKB1 was added
gene: NFKB1 was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFKB1 were set to PMID: 32278790
Phenotypes for gene: NFKB1 were set to Immunodeficiency, common variable, 12 616576
Review for gene: NFKB1 was set to AMBER
Added comment: PMID: 32278790 - review of >150 patients with heterozygous mutations found ~25% had bronchiectasis, and 83% had upper respiratory infections. Incomplete penetrance (70%) with age dependent severity well reported.

OMIM describes haploinsufficiency

Summary: really doesnt seem like a PCD gene but some features are shared.
Sources: Expert list
Ciliary Dyskinesia v0.76 DNAH8 Elena Savva reviewed gene: DNAH8: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31178125, 24307375; Phenotypes: Asthenozoospermia, primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.76 DNAH6 Elena Savva gene: DNAH6 was added
gene: DNAH6 was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: DNAH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNAH6 were set to PMID: 26918822; 28206990; 31676830; 29356036
Phenotypes for gene: DNAH6 were set to Heterotaxy, Azoospermia
Review for gene: DNAH6 was set to AMBER
Added comment: PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width.
Two patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1.

PMID: 28206990 - 1 homozygous family (2 siblings) with azoospermia. Authors note no recurrent respiratory infections

PMID: 31676830 - 2 chet unrelated families with spermatogenesis defects, and specifically noted to have no PCD manifestations. Phenotypes included sperm flagella defects. Patients carried missense and frameshift mutations.

PMID: 29356036 - 1 chet patient (missense) with globozoospermia and acephalic spermatozoa. Functional analysis showed near null gene expression.

Summary: Multiple patients + animal model with some features of PCD but nothing convincing
Sources: Expert list
Ciliary Dyskinesia v0.76 CFTR Elena Savva gene: CFTR was added
gene: CFTR was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Disseminated bronchiectasis
Review for gene: CFTR was set to GREEN
Added comment: CFTR-related disease features recurrent bronchial infection.

GREEN
Sources: Expert list
Ciliary Dyskinesia v0.76 CFAP57 Elena Savva reviewed gene: CFAP57: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21574244; Phenotypes: Van der Woude Syndrome, Primary ciliary dyskinesia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ciliary Dyskinesia v0.76 CFAP54 Elena Savva gene: CFAP54 was added
gene: CFAP54 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: CFAP54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP54 were set to PMID: 26224312
Phenotypes for gene: CFAP54 were set to Hydrocephalus, male infertility, mucus accumulation
Review for gene: CFAP54 was set to RED
Added comment: PMID: 26224312: Homozygous mice have PCD characterized by hydrocephalus, male infertility (spermatogenesis defects in flagella maturation), and mucus accumulation. Brain analysis showed mild dilatation of the lateral ventricles. Tracheal cilia beat frequency was significantly reduced. The gene was highest expressed in the testis and lungs

No patients reported as of yet
Sources: Literature
Ciliary Dyskinesia v0.76 LRRC56 Zornitza Stark Marked gene: LRRC56 as ready
Ciliary Dyskinesia v0.76 LRRC56 Zornitza Stark Gene: lrrc56 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.76 LRRC56 Zornitza Stark Classified gene: LRRC56 as Green List (high evidence)
Ciliary Dyskinesia v0.76 LRRC56 Zornitza Stark Gene: lrrc56 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.75 LRRC56 Elena Savva gene: LRRC56 was added
gene: LRRC56 was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC56 were set to PMID: 30388400
Phenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39 618254
Review for gene: LRRC56 was set to GREEN
Added comment: PMID: 30388400 - PMID: 30388400 - used protist null model to show abnormal ciliary beatings, replicated the phenotype when the protist was transfected with mutant allele observed in a patient.
3 unrelated families reported with either homozygous splice, missense or chet (nonsense/splice). Patients exhibited phenotypes including chronic respiratory/ear infections, situs inversus
Sources: Expert list
Ciliary Dyskinesia v0.75 PIH1D3 Zornitza Stark Marked gene: PIH1D3 as ready
Ciliary Dyskinesia v0.75 PIH1D3 Zornitza Stark Gene: pih1d3 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.75 PIH1D3 Zornitza Stark Phenotypes for gene: PIH1D3 were changed from to Ciliary dyskinesia, primary, 36, X-linked (MIM#300991)
Ciliary Dyskinesia v0.74 PIH1D3 Zornitza Stark Publications for gene: PIH1D3 were set to
Ciliary Dyskinesia v0.73 PIH1D3 Zornitza Stark Mode of inheritance for gene: PIH1D3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliary Dyskinesia v0.72 OFD1 Zornitza Stark Classified gene: OFD1 as Red List (low evidence)
Ciliary Dyskinesia v0.72 OFD1 Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v0.71 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 23, MIM# 300424, Joubert syndrome 10, MIM# 300804, Orofaciodigital syndrome I, MIM# 311200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliary Dyskinesia v0.71 Zornitza Stark removed gene:RAG1 from the panel
Ciliary Dyskinesia v0.70 SCNN1A Zornitza Stark Marked gene: SCNN1A as ready
Ciliary Dyskinesia v0.70 SCNN1A Zornitza Stark Gene: scnn1a has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.70 SCNN1A Zornitza Stark Classified gene: SCNN1A as Green List (high evidence)
Ciliary Dyskinesia v0.70 SCNN1A Zornitza Stark Gene: scnn1a has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.69 SCNN1B Zornitza Stark Marked gene: SCNN1B as ready
Ciliary Dyskinesia v0.69 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.69 SCNN1B Zornitza Stark Classified gene: SCNN1B as Green List (high evidence)
Ciliary Dyskinesia v0.69 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.68 PIH1D3 Crystle Lee Deleted their comment
Ciliary Dyskinesia v0.68 PIH1D3 Crystle Lee edited their review of gene: PIH1D3: Added comment: >5 families reported with PCD

PMID: 28176794; 6 families reported

PMID: 28041644; Reported 4 affected males from 2 families. Functional studies showed cilia and flagella immotility. (2016)

PMID: 24421334: Mouse model (2014); Changed publications: 28041644, 24421334, 28176794
Ciliary Dyskinesia v0.68 PIH1D3 Crystle Lee reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28041644, 24421334; Phenotypes: Ciliary dyskinesia, primary, 36, X-linked (MIM#300991); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliary Dyskinesia v0.68 RAG1 Crystle Lee Deleted their review
Ciliary Dyskinesia v0.68 RAG1 Crystle Lee gene: RAG1 was added
gene: RAG1 was added to Ciliary Dyskinesia. Sources: Expert Review
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAG1 were set to 26689875; 26186701
Phenotypes for gene: RAG1 were set to Severe combined immunodeficiency, B cell-negative (MIM#601457)
Added comment: Phenotypic over with PCD (recurrent respiratory problems).

PMID: 26689875; Reported 2 patients with classic SCID, 1 atypical SCID and one with Omen syndrome

PMID: 26186701: 1 patient with compound het variants in RAG1

Green in PanelApp UK - Respiratory ciliopathies list
Sources: Expert Review
Ciliary Dyskinesia v0.68 SCNN1A Crystle Lee gene: SCNN1A was added
gene: SCNN1A was added to Ciliary Dyskinesia. Sources: Expert Review
Mode of inheritance for gene: SCNN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCNN1A were set to 22207244; 19017867; 19462466
Phenotypes for gene: SCNN1A were set to Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021)
Review for gene: SCNN1A was set to GREEN
Added comment: Phenotypic overlap with PCD
Encodes for the alpha subunit of the epithelial sodium channel, which is distributed along the motile cilia. (PMID: 22207244)
Sources: Expert Review
Ciliary Dyskinesia v0.68 SCNN1B Crystle Lee gene: SCNN1B was added
gene: SCNN1B was added to Ciliary Dyskinesia. Sources: Expert Review
Mode of inheritance for gene: SCNN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCNN1B were set to 22207244; 16207733; 18507830
Phenotypes for gene: SCNN1B were set to Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)
Review for gene: SCNN1B was set to GREEN
Added comment: Phenotypic overlap with PCD
Encodes for the beta subunit of the epithelial sodium channel, which is distributed along the motile cilia. (PMID: 22207244)

PMID: 16207733: 2 patients reported
PMID: 18507830: 2 patients with bronchiectasis
Sources: Expert Review
Ciliary Dyskinesia v0.68 ARMC4 Zornitza Stark Marked gene: ARMC4 as ready
Ciliary Dyskinesia v0.68 ARMC4 Zornitza Stark Gene: armc4 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.68 RSPH3 Zornitza Stark Marked gene: RSPH3 as ready
Ciliary Dyskinesia v0.68 RSPH3 Zornitza Stark Gene: rsph3 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.68 RSPH3 Zornitza Stark Phenotypes for gene: RSPH3 were changed from Ciliary dyskinesia, primary, 32 (MIM#616481) to Ciliary dyskinesia, primary, 32 (MIM#616481)
Ciliary Dyskinesia v0.67 RSPH3 Zornitza Stark Phenotypes for gene: RSPH3 were changed from to Ciliary dyskinesia, primary, 32 (MIM#616481)
Ciliary Dyskinesia v0.66 RSPH3 Zornitza Stark Publications for gene: RSPH3 were set to
Ciliary Dyskinesia v0.65 RSPH3 Zornitza Stark Mode of inheritance for gene: RSPH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.64 RSPH4A Zornitza Stark Marked gene: RSPH4A as ready
Ciliary Dyskinesia v0.64 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.64 RSPH4A Zornitza Stark Phenotypes for gene: RSPH4A were changed from to Ciliary dyskinesia, primary, 11 (MIM#612649)
Ciliary Dyskinesia v0.63 RSPH4A Zornitza Stark Publications for gene: RSPH4A were set to 25789548; 22448264
Ciliary Dyskinesia v0.63 RSPH4A Zornitza Stark Publications for gene: RSPH4A were set to
Ciliary Dyskinesia v0.62 RSPH4A Zornitza Stark Mode of inheritance for gene: RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.61 DNAJB13 Zornitza Stark Marked gene: DNAJB13 as ready
Ciliary Dyskinesia v0.61 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.61 DNAJB13 Zornitza Stark Classified gene: DNAJB13 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.61 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.60 DNAH1 Zornitza Stark Marked gene: DNAH1 as ready
Ciliary Dyskinesia v0.60 DNAH1 Zornitza Stark Gene: dnah1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.60 DNAH1 Zornitza Stark Phenotypes for gene: DNAH1 were changed from to ?Ciliary dyskinesia, primary, 37 617577; Spermatogenic failure 18 617576
Ciliary Dyskinesia v0.59 DNAH1 Zornitza Stark Publications for gene: DNAH1 were set to
Ciliary Dyskinesia v0.58 DNAH1 Zornitza Stark Mode of inheritance for gene: DNAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.57 DNAH1 Zornitza Stark Classified gene: DNAH1 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.57 DNAH1 Zornitza Stark Gene: dnah1 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.56 RSPH9 Zornitza Stark Marked gene: RSPH9 as ready
Ciliary Dyskinesia v0.56 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.56 RSPH9 Zornitza Stark Phenotypes for gene: RSPH9 were changed from to Ciliary dyskinesia, primary, 12 (MIM#612650)
Ciliary Dyskinesia v0.55 RSPH9 Zornitza Stark Publications for gene: RSPH9 were set to
Ciliary Dyskinesia v0.54 RSPH9 Zornitza Stark Mode of inheritance for gene: RSPH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.53 SCNN1G Zornitza Stark Marked gene: SCNN1G as ready
Ciliary Dyskinesia v0.53 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.53 SCNN1G Zornitza Stark Classified gene: SCNN1G as Green List (high evidence)
Ciliary Dyskinesia v0.53 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.52 SCNN1G Zornitza Stark gene: SCNN1G was added
gene: SCNN1G was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: SCNN1G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCNN1G were set to Bronchiectasis with or without elevated sweat chloride 3, MIM# 613071
Review for gene: SCNN1G was set to GREEN
Added comment: Phenotypic overlap with PCD.
Sources: Expert list
Ciliary Dyskinesia v0.51 SPAG1 Zornitza Stark Marked gene: SPAG1 as ready
Ciliary Dyskinesia v0.51 SPAG1 Zornitza Stark Gene: spag1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.51 SPAG1 Zornitza Stark Phenotypes for gene: SPAG1 were changed from to Ciliary dyskinesia, primary, 28 (MIM#615505)
Ciliary Dyskinesia v0.50 SPAG1 Zornitza Stark Publications for gene: SPAG1 were set to
Ciliary Dyskinesia v0.49 SPAG1 Zornitza Stark Mode of inheritance for gene: SPAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.48 CFAP53 Zornitza Stark Marked gene: CFAP53 as ready
Ciliary Dyskinesia v0.48 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.48 CFAP53 Zornitza Stark Classified gene: CFAP53 as Green List (high evidence)
Ciliary Dyskinesia v0.48 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.47 TTC25 Zornitza Stark Marked gene: TTC25 as ready
Ciliary Dyskinesia v0.47 TTC25 Zornitza Stark Gene: ttc25 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.47 TTC25 Zornitza Stark Classified gene: TTC25 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.47 TTC25 Zornitza Stark Gene: ttc25 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.46 CFAP43 Zornitza Stark Marked gene: CFAP43 as ready
Ciliary Dyskinesia v0.46 CFAP43 Zornitza Stark Added comment: Comment when marking as ready: Good evidence for bi-allelic disease, much less so for mono allelic.
Ciliary Dyskinesia v0.46 CFAP43 Zornitza Stark Gene: cfap43 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.46 CFAP43 Zornitza Stark Classified gene: CFAP43 as Green List (high evidence)
Ciliary Dyskinesia v0.46 CFAP43 Zornitza Stark Gene: cfap43 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.45 RSPH3 Crystle Lee reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26073779; Phenotypes: Ciliary dyskinesia, primary, 32 (MIM#616481); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.45 RSPH4A Crystle Lee reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 22448264; Phenotypes: Ciliary dyskinesia, primary, 11 (MIM#612649); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.45 DNAJB13 Elena Savva gene: DNAJB13 was added
gene: DNAJB13 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: DNAJB13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB13 were set to PMID:27486783
Phenotypes for gene: DNAJB13 were set to Ciliary dyskinesia, primary, 34 617091
Review for gene: DNAJB13 was set to AMBER
Added comment: PMID: 27486783 - 2 unrelated families (missense, splice). One family hadsinopulmonary syndrome and TEM of nasal cells shows a reduction in cilia. Of remaining cilia, there was a reduction in motility. Functional studies of missense shows increased protein instability and degradation -> protein is absent from patient cilia.

Summary: 2 unrelated families. Functional studies prove LOF but no animal models to make it green in this list
Sources: Literature
Ciliary Dyskinesia v0.45 DNAH1 Elena Savva reviewed gene: DNAH1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31507630, 31765523, 25927852, 24360805; Phenotypes: ?Ciliary dyskinesia, primary, 37 617577, Spermatogenic failure 18 617576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.45 RSPH9 Crystle Lee reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 31285900; Phenotypes: Ciliary dyskinesia, primary, 12 (MIM#612650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.45 RSPH9 Crystle Lee Deleted their review
Ciliary Dyskinesia v0.45 RSPH9 Crystle Lee reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993197; Phenotypes: Ciliary dyskinesia, primary, 12 (MIM#612650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.45 SPAG1 Crystle Lee reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24055112; Phenotypes: Ciliary dyskinesia, primary, 28 (MIM#615505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.45 CFAP53 Elena Savva gene: CFAP53 was added
gene: CFAP53 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP53 were set to PMID:28621423; 22577226; 26531781
Phenotypes for gene: CFAP53 were set to Heterotaxy, visceral, 6, autosomal recessive 614779
Review for gene: CFAP53 was set to GREEN
Added comment: aka CCDC11

PMID: 22577226 - 2 siblings with a homozygous splice variant. One sibling had situs invertus syndrome and the other heterotaxy. One sibling far less severely affected. Patients had normal beating cilia, no respiratory issues

PMID: 28621423 - no new patients, performs functional studies on patient cells from ^, and frog animal models. Assays demonstrate mislocalized protein, increased cilia length in patient samples, while animal models showed CFAP53/CCDC11 is important for left-right patterning.

PMID: 26531781 - 1 patient with a homozygous PTC with situs inversus. Respiratory function was described as normal. Zebrafish model recapitulates the human phenotype.

Summary: 2 patients described with primary cilia dyskinesia conditions + animal models
Sources: Literature
Ciliary Dyskinesia v0.45 TTC25 Crystle Lee gene: TTC25 was added
gene: TTC25 was added to Ciliary Dyskinesia. Sources: Expert Review
Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC25 were set to 27486780
Phenotypes for gene: TTC25 were set to Ciliary dyskinesia, primary, 35 (MIM#617092)
Review for gene: TTC25 was set to AMBER
Added comment: 2 families reported with PCD. Mouse model showed immotile nodal cilia. Left as amber for now.

Gene ncodes a component of the outer dynein arm required to develop the main mechanical force to generate ciliary beats
(Gene is non coding in gnomad v2 and coding in v3)
Sources: Expert Review
Ciliary Dyskinesia v0.45 CFAP43 Elena Savva gene: CFAP43 was added
gene: CFAP43 was added to Ciliary Dyskinesia. Sources: Expert Review
Mode of inheritance for gene: CFAP43 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CFAP43 were set to PMID: 31884020; 28552195; 31004071; 29449551
Phenotypes for gene: CFAP43 were set to Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19 617592
Review for gene: CFAP43 was set to GREEN
Added comment: aka WDR96

PMID: 31884020 - animal models (mouse, frog) demonstrate the protein localizes in ciliary axoneme and is involved in MOTILE cilia movement. LOF CFAP43 caused mucus acucmulation in airways, impaired spermatogenesis and hydrocephalus.

PMID: 28552195 - 3x chet (bilallelic PTCs or chet PTC/missense) with abnormal sperm motility. Null mouse models were also infertile.

PMID: 31004071 - one family with a heterozygous nonsense and AD inheritance of late onset hydrocephaly (checked in Mutalyzer, variant is NMD predicted). Abnormal cilia observed from mucosa sample. Null mice also show abnormal sperm and dilation of brain ventricles.

PMID: 29449551 - reports an additional 10 patients with either homozygous PTCs or chet PTC/missense who were infertile with flagella defects

Summary: single report of AD hydrocephaly
Sources: Expert Review
Ciliary Dyskinesia v0.45 C21orf59 Zornitza Stark Tag founder tag was added to gene: C21orf59.
Ciliary Dyskinesia v0.45 C21orf59 Zornitza Stark Publications for gene: C21orf59 were set to 24094744
Ciliary Dyskinesia v0.44 C11orf70 Zornitza Stark Tag new gene name tag was added to gene: C11orf70.
Ciliary Dyskinesia v0.44 C11orf70 Zornitza Stark Marked gene: C11orf70 as ready
Ciliary Dyskinesia v0.44 C11orf70 Zornitza Stark Gene: c11orf70 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.44 C11orf70 Zornitza Stark Classified gene: C11orf70 as Green List (high evidence)
Ciliary Dyskinesia v0.44 C11orf70 Zornitza Stark Gene: c11orf70 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.43 ARMC4 Zornitza Stark Phenotypes for gene: ARMC4 were changed from to Ciliary dyskinesia, primary, 23, MIM# 615451
Ciliary Dyskinesia v0.42 ARMC4 Zornitza Stark Publications for gene: ARMC4 were set to
Ciliary Dyskinesia v0.41 ARMC4 Zornitza Stark Mode of inheritance for gene: ARMC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.40 C21orf59 Elena Savva reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24094744, 26904945; Phenotypes: Ciliary dyskinesia, primary, 26 615500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.40 C11orf70 Elena Savva gene: C11orf70 was added
gene: C11orf70 was added to Ciliary Dyskinesia. Sources: Expert list
Mode of inheritance for gene: C11orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C11orf70 were set to PMID: 29727693; 29727692
Phenotypes for gene: C11orf70 were set to Ciliary dyskinesia, primary, 38 618063
Review for gene: C11orf70 was set to GREEN
Added comment: aka CFAP300

OMIM: CFAP300 is an evolutionarily conserved protein essential for assembly of dynein arms.

PMID: 29727692 - 2 unrelated families, one with a homozygous missense, the other chet for two PTCs. Patients have immotile respiratory cilia. Paramecium knockouts have lost cilia and swimming velocity,

PMID: 29727693 - 5 families with biallelic PTCs. Patients had increased respiratory infections and 1 situs invertus
Sources: Expert list
Ciliary Dyskinesia v0.40 ARMC4 Elena Savva reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31765523; Phenotypes: Ciliary dyskinesia, primary, 23 615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.40 CCDC65 Zornitza Stark Classified gene: CCDC65 as Green List (high evidence)
Ciliary Dyskinesia v0.40 CCDC65 Zornitza Stark Gene: ccdc65 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.39 CCDC65 Zornitza Stark reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 27, MIM# 615504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.39 CCDC65 Zornitza Stark Deleted their review
Ciliary Dyskinesia v0.39 CCDC65 Zornitza Stark Deleted their comment
Ciliary Dyskinesia v0.39 CCDC65 Zornitza Stark Marked gene: CCDC65 as ready
Ciliary Dyskinesia v0.39 CCDC65 Zornitza Stark Added comment: Comment when marking as ready: Agree, single founder variant reported, functional data.
Ciliary Dyskinesia v0.39 CCDC65 Zornitza Stark Gene: ccdc65 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.39 CCDC65 Zornitza Stark Phenotypes for gene: CCDC65 were changed from to Ciliary dyskinesia, primary, 27, MIM# 615504
Ciliary Dyskinesia v0.38 CCDC65 Zornitza Stark Publications for gene: CCDC65 were set to
Ciliary Dyskinesia v0.37 CCDC65 Zornitza Stark Mode of inheritance for gene: CCDC65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.36 CCDC65 Zornitza Stark Classified gene: CCDC65 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.36 CCDC65 Zornitza Stark Gene: ccdc65 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.35 CCDC65 Zornitza Stark Tag founder tag was added to gene: CCDC65.
Ciliary Dyskinesia v0.35 CCDC65 Elena Savva reviewed gene: CCDC65: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23991085, 24094744; Phenotypes: Ciliary dyskinesia, primary, 27 615504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.35 C21orf59 Zornitza Stark changed review comment from: At least three unrelated families reported.; to: At least three unrelated families reported. HGNC approved name CFAP298.
Ciliary Dyskinesia v0.35 C21orf59 Zornitza Stark Marked gene: C21orf59 as ready
Ciliary Dyskinesia v0.35 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.35 C21orf59 Zornitza Stark Phenotypes for gene: C21orf59 were changed from to Ciliary dyskinesia, primary, 26, MIM# 615500
Ciliary Dyskinesia v0.34 C21orf59 Zornitza Stark Publications for gene: C21orf59 were set to
Ciliary Dyskinesia v0.33 C21orf59 Zornitza Stark Mode of inheritance for gene: C21orf59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.32 C21orf59 Zornitza Stark reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: None; Publications: 24094744; Phenotypes: Ciliary dyskinesia, primary, 26, MIM# 615500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.32 C21orf59 Zornitza Stark Tag new gene name tag was added to gene: C21orf59.
Ciliary Dyskinesia v0.32 SPEF2 Zornitza Stark edited their review of gene: SPEF2: Changed phenotypes: Spermatogenic failure 43, MIM#618751, Primary ciliary dyskinesia-like phenotype
Ciliary Dyskinesia v0.32 SPEF2 Zornitza Stark Marked gene: SPEF2 as ready
Ciliary Dyskinesia v0.32 SPEF2 Zornitza Stark Gene: spef2 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.32 SPEF2 Zornitza Stark Phenotypes for gene: SPEF2 were changed from Spermatogenic failure 43, MIM#618751; Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype to Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype
Ciliary Dyskinesia v0.31 SPEF2 Zornitza Stark Classified gene: SPEF2 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.31 SPEF2 Zornitza Stark Gene: spef2 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.30 SPEF2 Zornitza Stark gene: SPEF2 was added
gene: SPEF2 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344; 31942643
Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751; Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype
Review for gene: SPEF2 was set to AMBER
Added comment: 4 families reported with bi-allelic variants and sperm morphological abnormalities plus recurrent sinopulmonary infections and bronchiectasis, consistent with a PCD-like phenotype. Morphological abnormalities of the respiratory cilia were not observed. Mouse model recapitulated the infertility phenotype but also had hydrocephalus and sinusitis, again arguing for broader impact on ciliary function. Note other reports of individuals with bi-allelic variants and no respiratory phenotype reported. Given respiratory phenotype is milder and currently it is unclear in what proportion of individuals it is present, Amber rating on this panel for now.
Sources: Literature
Ciliary Dyskinesia v0.29 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Ciliary Dyskinesia v0.29 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.29 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Joubert syndrome 10, MIM 300804; Orofaciodigital syndrome I, MIM 311200; Simpson-Golabi-Behmel syndrome, type 2, MIM 300209
Ciliary Dyskinesia v0.28 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Ciliary Dyskinesia v0.27 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ciliary Dyskinesia v0.27 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32276433, 31373179; Phenotypes: Joubert syndrome 10, MIM 300804, Orofaciodigital syndrome I, MIM 311200, Simpson-Golabi-Behmel syndrome, type 2, MIM 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao Deleted their review
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao commented on gene: OFD1
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao Deleted their review
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31373179, 31373179; Phenotypes: Joubert syndrome 10, MIN 300804, Orofaciodigital syndrome I, MIN 311200, Simpson-Golabi-Behmel syndrome, type 2, MIM 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Ciliary Dyskinesia v0.26 NEK10 Zornitza Stark Marked gene: NEK10 as ready
Ciliary Dyskinesia v0.26 NEK10 Zornitza Stark Gene: nek10 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.26 NEK10 Zornitza Stark Phenotypes for gene: NEK10 were changed from to Primary ciliary dyskinesia; bronchiectasis
Ciliary Dyskinesia v0.25 NEK10 Zornitza Stark Classified gene: NEK10 as Green List (high evidence)
Ciliary Dyskinesia v0.25 NEK10 Zornitza Stark Gene: nek10 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.24 NEK10 Zornitza Stark gene: NEK10 was added
gene: NEK10 was added to Ciliary Dyskinesia. Sources: NHS GMS
Mode of inheritance for gene: NEK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK10 were set to 31959991
Review for gene: NEK10 was set to GREEN
gene: NEK10 was marked as current diagnostic
Added comment: Nine individuals from 5 unrelated families, some functional data.
Sources: NHS GMS
Ciliary Dyskinesia v0.23 DNAH5 Zornitza Stark Marked gene: DNAH5 as ready
Ciliary Dyskinesia v0.23 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.23 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)
Ciliary Dyskinesia v0.22 DNAH5 Zornitza Stark Publications for gene: DNAH5 were set to
Ciliary Dyskinesia v0.21 DNAH5 Zornitza Stark Mode of inheritance for gene: DNAH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.20 DNAH5 Zornitza Stark reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627867; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.20 DRC1 Zornitza Stark Marked gene: DRC1 as ready
Ciliary Dyskinesia v0.20 DRC1 Zornitza Stark Gene: drc1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.20 DRC1 Zornitza Stark Phenotypes for gene: DRC1 were changed from to Ciliary dyskinesia, primary, 21, MIM# 615294
Ciliary Dyskinesia v0.19 DRC1 Zornitza Stark Publications for gene: DRC1 were set to
Ciliary Dyskinesia v0.18 DRC1 Zornitza Stark Mode of inheritance for gene: DRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.17 DRC1 Zornitza Stark Tag SV/CNV tag was added to gene: DRC1.
Ciliary Dyskinesia v0.17 DRC1 Zornitza Stark reviewed gene: DRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31960620; Phenotypes: Ciliary dyskinesia, primary, 21, MIM# 615294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.17 TTC12 Zornitza Stark Classified gene: TTC12 as Green List (high evidence)
Ciliary Dyskinesia v0.17 TTC12 Zornitza Stark Gene: ttc12 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.16 TTC12 Zornitza Stark Marked gene: TTC12 as ready
Ciliary Dyskinesia v0.16 TTC12 Zornitza Stark Gene: ttc12 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.16 TTC12 Zornitza Stark Classified gene: TTC12 as Green List (high evidence)
Ciliary Dyskinesia v0.16 TTC12 Zornitza Stark Gene: ttc12 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.15 TTC12 Zornitza Stark gene: TTC12 was added
gene: TTC12 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC12 were set to 31978331
Phenotypes for gene: TTC12 were set to Ciliary dyskinesia
Review for gene: TTC12 was set to GREEN
Added comment: Four unrelated families with LoF variants reported with a respiratory phenotype.
Sources: Literature
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Marked gene: FOXJ1 as ready
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Classified gene: FOXJ1 as Green List (high evidence)
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.13 FOXJ1 Zornitza Stark gene: FOXJ1 was added
gene: FOXJ1 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXJ1 were set to 31630787
Phenotypes for gene: FOXJ1 were set to hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Review for gene: FOXJ1 was set to GREEN
Added comment: Six unrelated individuals with de novo variants in this gene.
Sources: Literature
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Marked gene: GAS2L2 as ready
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated individuals reported, downgrade to Amber.
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Phenotypes for gene: GAS2L2 were changed from to Ciliary dyskinesia, primary, 41 (MIM # 618449)
Ciliary Dyskinesia v0.11 GAS2L2 Zornitza Stark Publications for gene: GAS2L2 were set to
Ciliary Dyskinesia v0.10 GAS2L2 Zornitza Stark Mode of inheritance for gene: GAS2L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.9 GAS2L2 Zornitza Stark Classified gene: GAS2L2 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.9 GAS2L2 Zornitza Stark Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.8 GAS2L2 Ain Roesley reviewed gene: GAS2L2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30665704; Phenotypes: ?Ciliary dyskinesia, primary, 41 (MIM # 618449); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.8 Zornitza Stark Panel name changed from Ciliary dyskinesia to Ciliary Dyskinesia
Ciliary Dyskinesia v0.7 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Ciliary Dyskinesia v0.6 Zornitza Stark Panel name changed from Ciliary dyskinesia_VCGS to Ciliary dyskinesia
Panel types changed to Victorian Clinical Genetics Services
Ciliary Dyskinesia v0.5 ZMYND10 Zornitza Stark Phenotypes for gene: ZMYND10 were changed from to Ciliary dyskinesia, primary, 22, MIM#615444
Ciliary Dyskinesia v0.4 ZMYND10 Zornitza Stark Publications for gene: ZMYND10 were set to
Ciliary Dyskinesia v0.3 ZMYND10 Zornitza Stark Mode of inheritance for gene: ZMYND10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.2 ZMYND10 Sebastian Lunke Marked gene: ZMYND10 as ready
Ciliary Dyskinesia v0.2 ZMYND10 Sebastian Lunke Added comment: Comment when marking as ready: More than 10 Families with hom and comp het variants and PCD
Ciliary Dyskinesia v0.2 ZMYND10 Sebastian Lunke Gene: zmynd10 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.2 ZMYND10 Chern Lim reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23891471, 23891469; Phenotypes: Ciliary dyskinesia, primary, 22, MIM#615444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.2 CFAP57 Sebastian Lunke Marked gene: CFAP57 as ready
Ciliary Dyskinesia v0.2 CFAP57 Sebastian Lunke Gene: cfap57 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.2 CFAP57 Sebastian Lunke Classified gene: CFAP57 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.2 CFAP57 Sebastian Lunke Gene: cfap57 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.1 CFAP57 Sebastian Lunke edited their review of gene: CFAP57: Added comment: Gene not in PubMed but recently published in bioRxiv in single patient with hom nonsense variants and Primary ciliary dyskinesia. Some functional data provided.; Changed publications: bioRxiv 773028 doi: https://doi.org/10.1101/773028
Ciliary Dyskinesia v0.1 CFAP57 Sebastian Lunke gene: CFAP57 was added
gene: CFAP57 was added to Ciliary dyskinesia_VCGS. Sources: Literature
Mode of inheritance for gene: CFAP57 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: CFAP57 was set to AMBER
Added comment: Sources: Literature
Ciliary Dyskinesia v0.0 ZMYND10 Zornitza Stark gene: ZMYND10 was added
gene: ZMYND10 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZMYND10 was set to Unknown
Ciliary Dyskinesia v0.0 SPAG1 Zornitza Stark gene: SPAG1 was added
gene: SPAG1 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPAG1 was set to Unknown
Ciliary Dyskinesia v0.0 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RSPH9 was set to Unknown
Ciliary Dyskinesia v0.0 RSPH4A Zornitza Stark gene: RSPH4A was added
gene: RSPH4A was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RSPH4A was set to Unknown
Ciliary Dyskinesia v0.0 RSPH3 Zornitza Stark gene: RSPH3 was added
gene: RSPH3 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RSPH3 was set to Unknown
Ciliary Dyskinesia v0.0 RSPH1 Zornitza Stark gene: RSPH1 was added
gene: RSPH1 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RSPH1 was set to Unknown
Ciliary Dyskinesia v0.0 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPGR was set to Unknown
Ciliary Dyskinesia v0.0 PIH1D3 Zornitza Stark gene: PIH1D3 was added
gene: PIH1D3 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIH1D3 was set to Unknown
Ciliary Dyskinesia v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OFD1 was set to Unknown
Ciliary Dyskinesia v0.0 NME8 Zornitza Stark gene: NME8 was added
gene: NME8 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NME8 was set to Unknown
Ciliary Dyskinesia v0.0 MCIDAS Zornitza Stark gene: MCIDAS was added
gene: MCIDAS was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MCIDAS was set to Unknown
Ciliary Dyskinesia v0.0 LRRC6 Zornitza Stark gene: LRRC6 was added
gene: LRRC6 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRRC6 was set to Unknown
Ciliary Dyskinesia v0.0 HYDIN Zornitza Stark gene: HYDIN was added
gene: HYDIN was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HYDIN was set to Unknown
Ciliary Dyskinesia v0.0 GAS8 Zornitza Stark gene: GAS8 was added
gene: GAS8 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GAS8 was set to Unknown
Ciliary Dyskinesia v0.0 GAS2L2 Zornitza Stark gene: GAS2L2 was added
gene: GAS2L2 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GAS2L2 was set to Unknown
Ciliary Dyskinesia v0.0 DRC1 Zornitza Stark gene: DRC1 was added
gene: DRC1 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DRC1 was set to Unknown
Ciliary Dyskinesia v0.0 DNAL1 Zornitza Stark gene: DNAL1 was added
gene: DNAL1 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAL1 was set to Unknown
Ciliary Dyskinesia v0.0 DNAI2 Zornitza Stark gene: DNAI2 was added
gene: DNAI2 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAI2 was set to Unknown
Ciliary Dyskinesia v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAI1 was set to Unknown
Ciliary Dyskinesia v0.0 DNAH9 Zornitza Stark gene: DNAH9 was added
gene: DNAH9 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAH9 was set to Unknown
Ciliary Dyskinesia v0.0 DNAH8 Zornitza Stark gene: DNAH8 was added
gene: DNAH8 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAH8 was set to Unknown
Ciliary Dyskinesia v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAH5 was set to Unknown
Ciliary Dyskinesia v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAH11 was set to Unknown
Ciliary Dyskinesia v0.0 DNAH1 Zornitza Stark gene: DNAH1 was added
gene: DNAH1 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAH1 was set to Unknown
Ciliary Dyskinesia v0.0 DNAAF5 Zornitza Stark gene: DNAAF5 was added
gene: DNAAF5 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAAF5 was set to Unknown
Ciliary Dyskinesia v0.0 DNAAF4 Zornitza Stark gene: DNAAF4 was added
gene: DNAAF4 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAAF4 was set to Unknown
Ciliary Dyskinesia v0.0 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAAF3 was set to Unknown
Ciliary Dyskinesia v0.0 DNAAF2 Zornitza Stark gene: DNAAF2 was added
gene: DNAAF2 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAAF2 was set to Unknown
Ciliary Dyskinesia v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAAF1 was set to Unknown
Ciliary Dyskinesia v0.0 C21orf59 Zornitza Stark gene: C21orf59 was added
gene: C21orf59 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C21orf59 was set to Unknown
Ciliary Dyskinesia v0.0 CCNO Zornitza Stark gene: CCNO was added
gene: CCNO was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCNO was set to Unknown
Ciliary Dyskinesia v0.0 CCDC65 Zornitza Stark gene: CCDC65 was added
gene: CCDC65 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC65 was set to Unknown
Ciliary Dyskinesia v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC40 was set to Unknown
Ciliary Dyskinesia v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC39 was set to Unknown
Ciliary Dyskinesia v0.0 CCDC151 Zornitza Stark gene: CCDC151 was added
gene: CCDC151 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC151 was set to Unknown
Ciliary Dyskinesia v0.0 CCDC114 Zornitza Stark gene: CCDC114 was added
gene: CCDC114 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC114 was set to Unknown
Ciliary Dyskinesia v0.0 CCDC103 Zornitza Stark gene: CCDC103 was added
gene: CCDC103 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC103 was set to Unknown
Ciliary Dyskinesia v0.0 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARMC4 was set to Unknown
Ciliary Dyskinesia v0.0 Zornitza Stark Added panel Ciliary dyskinesia_VCGS