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Mendeliome v0.7032 | ATCAY | Zornitza Stark Marked gene: ATCAY as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.7032 | ATCAY | Zornitza Stark Gene: atcay has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.7032 | ATCAY | Zornitza Stark Phenotypes for gene: ATCAY were changed from to Ataxia, cerebellar, Cayman type, MIM# 601238; MONDO:0011025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.7031 | ATCAY | Zornitza Stark Publications for gene: ATCAY were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.7030 | ATCAY | Zornitza Stark Mode of inheritance for gene: ATCAY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.7029 | ATCAY | Zornitza Stark edited their review of gene: ATCAY: Added comment: 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).; Changed rating: GREEN; Changed publications: 14556008, 29449188, 23226316, 26343454; Changed phenotypes: Ataxia, cerebellar, Cayman type, MIM# 601238, MONDO:0011025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.0 | ATCAY |
Zornitza Stark gene: ATCAY was added gene: ATCAY was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATCAY was set to Unknown |