PanelApp (stage)

Activity

Filter

Cancel
Date Panel Item Activity
64 actions
BabyScreen+ newborn screening v0.1821 SLC5A6 Zornitza Stark Tag for review was removed from gene: SLC5A6.
Tag treatable tag was added to gene: SLC5A6.
Tag metabolic tag was added to gene: SLC5A6.
BabyScreen+ newborn screening v0.1714 SLC5A7 Zornitza Stark Tag treatable tag was added to gene: SLC5A7.
Tag neurological tag was added to gene: SLC5A7.
BabyScreen+ newborn screening v0.1675 C5 Zornitza Stark Tag immunological tag was added to gene: C5.
BabyScreen+ newborn screening v0.1389 SLC52A2 Zornitza Stark Tag treatable tag was added to gene: SLC52A2.
Tag metabolic tag was added to gene: SLC52A2.
BabyScreen+ newborn screening v0.1389 SLC52A3 Zornitza Stark Tag treatable tag was added to gene: SLC52A3.
Tag metabolic tag was added to gene: SLC52A3.
BabyScreen+ newborn screening v0.1389 SLC5A1 Zornitza Stark Tag treatable tag was added to gene: SLC5A1.
Tag gastrointestinal tag was added to gene: SLC5A1.
BabyScreen+ newborn screening v0.1389 SLC5A5 Zornitza Stark Tag treatable tag was added to gene: SLC5A5.
Tag endocrine tag was added to gene: SLC5A5.
BabyScreen+ newborn screening v0.1389 SLC5A5 Zornitza Stark reviewed gene: SLC5A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
BabyScreen+ newborn screening v0.1353 SLC5A5 Seb Lunke Marked gene: SLC5A5 as ready
BabyScreen+ newborn screening v0.1353 SLC5A5 Seb Lunke Gene: slc5a5 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1353 SLC5A5 Seb Lunke Phenotypes for gene: SLC5A5 were changed from Thyroid dyshormonogenesis 1 to Thyroid dyshormonogenesis 1, MIM# 274400
BabyScreen+ newborn screening v0.1352 SLC5A5 Seb Lunke Publications for gene: SLC5A5 were set to
BabyScreen+ newborn screening v0.1351 SLC5A5 Seb Lunke reviewed gene: SLC5A5: Rating: ; Mode of pathogenicity: None; Publications: 33272083; Phenotypes: Thyroid dyshormonogenesis 1, MIM# 274400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1351 SLC5A1 Seb Lunke Marked gene: SLC5A1 as ready
BabyScreen+ newborn screening v0.1351 SLC5A1 Seb Lunke Gene: slc5a1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1351 SLC5A1 Seb Lunke reviewed gene: SLC5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucose/galactose malabsorption, MIM# 606824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1351 SLC52A3 Seb Lunke Marked gene: SLC52A3 as ready
BabyScreen+ newborn screening v0.1351 SLC52A3 Seb Lunke Gene: slc52a3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1351 SLC52A3 Seb Lunke Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Fazio-Londe disease, MIM#211500 to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
BabyScreen+ newborn screening v0.1350 SLC52A3 Seb Lunke reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1350 SLC52A2 Seb Lunke Marked gene: SLC52A2 as ready
BabyScreen+ newborn screening v0.1350 SLC52A2 Seb Lunke Gene: slc52a2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1350 SLC52A2 Seb Lunke reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1259 SLC5A6 Seb Lunke Marked gene: SLC5A6 as ready
BabyScreen+ newborn screening v0.1259 SLC5A6 Seb Lunke Gene: slc5a6 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1259 SLC5A6 Seb Lunke Phenotypes for gene: SLC5A6 were changed from to Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
BabyScreen+ newborn screening v0.1258 SLC5A6 Seb Lunke Classified gene: SLC5A6 as Green List (high evidence)
BabyScreen+ newborn screening v0.1258 SLC5A6 Seb Lunke Gene: slc5a6 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1257 SLC5A6 Seb Lunke gene: SLC5A6 was added
gene: SLC5A6 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC5A6.
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: SLC5A6 was set to GREEN
Added comment: Established gene-disease association.

Childhood onset, multisystemic metabolic disorder with highly variable manifestations

Treatment: biotin, pantothenic acid, lipoate

Non-genetic confirmatory test: no
Sources: Literature
BabyScreen+ newborn screening v0.1256 SLC5A7 Seb Lunke Marked gene: SLC5A7 as ready
BabyScreen+ newborn screening v0.1256 SLC5A7 Seb Lunke Gene: slc5a7 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1256 SLC5A7 Seb Lunke Classified gene: SLC5A7 as Green List (high evidence)
BabyScreen+ newborn screening v0.1256 SLC5A7 Seb Lunke Gene: slc5a7 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1255 SLC5A7 Seb Lunke gene: SLC5A7 was added
gene: SLC5A7 was added to gNBS. Sources: Literature
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A7 were set to 20301347
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
Review for gene: SLC5A7 was set to GREEN
Added comment: Established gene-disease association.

Childhood onset, severe neuromuscular disorder
(recessive disease)

Treatment: Salbutamol, Acetylcholine-esterase inhibitors

Non-genetic confirmatory test: repetitive nerve stimulation test
Sources: Literature
BabyScreen+ newborn screening v0.1051 ERCC5 Zornitza Stark Tag for review was removed from gene: ERCC5.
BabyScreen+ newborn screening v0.955 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
BabyScreen+ newborn screening v0.955 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.955 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from Xeroderma pigmentosum to Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696; Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216
BabyScreen+ newborn screening v0.954 ERCC5 Zornitza Stark Classified gene: ERCC5 as Red List (low evidence)
BabyScreen+ newborn screening v0.954 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.953 ERCC5 Zornitza Stark Tag for review tag was added to gene: ERCC5.
BabyScreen+ newborn screening v0.953 ERCC5 Zornitza Stark reviewed gene: ERCC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696, Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.497 C5 Zornitza Stark Marked gene: C5 as ready
BabyScreen+ newborn screening v0.497 C5 Zornitza Stark Gene: c5 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.497 C5 Zornitza Stark Tag treatable tag was added to gene: C5.
BabyScreen+ newborn screening v0.497 C5 Zornitza Stark reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C5 deficiency (MIM#609536); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.293 SLC5A2 Zornitza Stark Marked gene: SLC5A2 as ready
BabyScreen+ newborn screening v0.293 SLC5A2 Zornitza Stark Gene: slc5a2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.293 SLC5A2 Zornitza Stark Phenotypes for gene: SLC5A2 were changed from Renal glucosuria to Renal glucosuria, MIM# 233100
BabyScreen+ newborn screening v0.292 SLC5A2 Zornitza Stark Mode of inheritance for gene: SLC5A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.291 SLC5A2 Zornitza Stark Classified gene: SLC5A2 as Red List (low evidence)
BabyScreen+ newborn screening v0.291 SLC5A2 Zornitza Stark Gene: slc5a2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.290 SLC5A2 Zornitza Stark reviewed gene: SLC5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal glucosuria, MIM# 233100; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to Lathosterolosis
BabyScreen+ newborn screening v0.0 MUC5B Zornitza Stark gene: MUC5B was added
gene: MUC5B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: MUC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MUC5B were set to Pulmonary fibrosis, idiopathic
BabyScreen+ newborn screening v0.0 DNAJC5 Zornitza Stark gene: DNAJC5 was added
gene: DNAJC5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJC5 were set to Neuronal ceroid lipofuscinosis, adult-onset
BabyScreen+ newborn screening v0.0 CCDC50 Zornitza Stark gene: CCDC50 was added
gene: CCDC50 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CCDC50 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCDC50 were set to 27911912; 24875298; 17503326
Phenotypes for gene: CCDC50 were set to Deafness, autosomal dominant 44 , MIM# 607453
BabyScreen+ newborn screening v0.0 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Fazio-Londe disease, MIM#211500
BabyScreen+ newborn screening v0.0 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
BabyScreen+ newborn screening v0.0 SLC5A5 Zornitza Stark gene: SLC5A5 was added
gene: SLC5A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A5 were set to Thyroid dyshormonogenesis 1
BabyScreen+ newborn screening v0.0 SLC5A2 Zornitza Stark gene: SLC5A2 was added
gene: SLC5A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: SLC5A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A2 were set to Renal glucosuria
BabyScreen+ newborn screening v0.0 SLC5A1 Zornitza Stark gene: SLC5A1 was added
gene: SLC5A1 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption, MIM# 606824
BabyScreen+ newborn screening v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum
BabyScreen+ newborn screening v0.0 C5 Zornitza Stark gene: C5 was added
gene: C5 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5 were set to C5 deficiency, MIM# 609536