Ataxia - paediatric
Gene: ATCAYEnsemblGeneIds (GRCh38): ENSG00000167654
EnsemblGeneIds (GRCh37): ENSG00000167654
OMIM: 608179, Gene2Phenotype
ATCAY is in 5 panels
2 reviews
Sarah Leigh (Genomics England)
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Report of a variant c.599_605del, p.Pro200Profs*20 (PMID 29449188), which is in addition to the previously reported linked variants in the Cayman population (c.965+3G > T & p.S301R)(PMID 29449188). Mouse and zebra fish models share phenotypic features with humans with Ataxia, cerebellar, Cayman type (OMIM:601238)(PMID 14556008; 26343454).Created: 6 Apr 2021, 4:37 p.m. | Last Modified: 6 Apr 2021, 4:37 p.m.
Panel Version: 0.274
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Described in Cayman Island population, two founder variants.Created: 17 Apr 2020, 3:12 a.m. | Last Modified: 17 Apr 2020, 3:12 a.m.
Panel Version: 0.176
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, cerebellar, Cayman type, MIM# 601238
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Ataxia, cerebellar, Cayman type, MIM# 601238
- MONDO:0011025
- OMIM
- 608179
- Clinvar variants
- Variants in ATCAY
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATCAY were changed from Ataxia, cerebellar, Cayman type, MIM# 601238 to Ataxia, cerebellar, Cayman type, MIM# 601238; MONDO:0011025
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATCAY were set to 14556008
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atcay has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atcay has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATCAY were changed from Cayman Ataxia, 601238; Cerebellar Ataxia, Cayman type; Ataxia, cerebellar, Cayman type to Ataxia, cerebellar, Cayman type, MIM# 601238
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATCAY were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atcay has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ATCAY was added gene: ATCAY was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATCAY were set to Cayman Ataxia, 601238; Cerebellar Ataxia, Cayman type; Ataxia, cerebellar, Cayman type