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Hereditary ataxia with onset in adulthood v2.144 AP1S2 Eleanor Williams Tag Q2_21_phenotype was removed from gene: AP1S2.
Hereditary ataxia with onset in adulthood v2.144 AP1S2 Sarah Leigh commented on gene: AP1S2
Hereditary ataxia with onset in adulthood v2.143 AP1S2 Eleanor Williams Source Expert Review Amber was added to AP1S2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v2.89 AP1S2 Arina Puzriakova Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5 OMIM:304340; syndromic X-linked intellectual disability 5 MONDO:0010574 to Pettigrew syndrome, OMIM:304340
Hereditary ataxia with onset in adulthood v2.65 AP1S2 Sarah Leigh Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340; Pettigrew syndrome to Mental retardation, X-linked syndromic 5 OMIM:304340; syndromic X-linked intellectual disability 5 MONDO:0010574
Hereditary ataxia with onset in adulthood v2.62 AP1S2 Sarah Leigh Tag Q2_21_phenotype tag was added to gene: AP1S2.
Hereditary ataxia with onset in adulthood v2.9 AP1S2 Zornitza Stark reviewed gene: AP1S2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic 5, Pettigrew syndrome, 304340; Mode of inheritance: None
Hereditary ataxia with onset in adulthood v1.9 AP1S2 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic 5, 304340; Pettigrew syndrome for gene: AP1S2
Hereditary ataxia with onset in adulthood v1.8 AP1S2 Louise Daugherty reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 AP1S2 Tracy Lester reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked syndromic 5, Pettigrew syndrome, 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.2 AP1S2 Louise Daugherty Source NHS GMS was added to AP1S2.
Hereditary ataxia with onset in adulthood v1.1 AP1S2 Louise Daugherty Source Wessex and West Midlands GLH was added to AP1S2.
Hereditary ataxia with onset in adulthood v0.81 AP1S2 Louise Daugherty Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, 304340
Hereditary ataxia with onset in adulthood v0.2 AP1S2 Eleanor Williams gene: AP1S2 was added
gene: AP1S2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)