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Hereditary ataxia with onset in adulthood v2.144 ATP8A2 Eleanor Williams Tag Q2_21_phenotype was removed from gene: ATP8A2.
Tag Q2_21_expert_review was removed from gene: ATP8A2.
Hereditary ataxia with onset in adulthood v2.144 ATP8A2 Sarah Leigh commented on gene: ATP8A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia with onset in adulthood v2.143 ATP8A2 Eleanor Williams Source Expert Review Amber was added to ATP8A2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v2.139 ATP8A2 Sarah Leigh changed review comment from: Zornitza Stark has commented this gene is responsible for a congenital condition and not for an adult onset phenotype. However, table 1 in PMID 31612321 provides a review of the reported variants and their associated clinical features, where a few cases occur after adolescence. This provides some justification for this gene being green on this adult onset panel.
; to: Zornitza Stark has commented this gene is responsible for a congenital condition and not for an adult onset phenotype. Table 1 in PMID 31612321 provides a review of the reported variants and their associated clinical features, although cases are seen after adolescence, where data is available the onset is before 5 years of age. However, the report of a 27 year old male, without age of onset data (PMID: 22892528), provides some justification for this gene being green on this adult onset panel.
Hereditary ataxia with onset in adulthood v2.52 ATP8A2 Sarah Leigh Tag Q2_21_phenotype tag was added to gene: ATP8A2.
Tag Q2_21_expert_review tag was added to gene: ATP8A2.
Hereditary ataxia with onset in adulthood v2.52 ATP8A2 Sarah Leigh changed review comment from: Zornitza Stark has commented this gene is responsible for a congenital condition and not for an adult onset phenotype. However, table 1 in PMID 31612321 provides a review of the reported variants and their associated clinical features, where a few cases occur after adolescence. This provides justification for this gene being green on this adult onset panel.; to: Zornitza Stark has commented this gene is responsible for a congenital condition and not for an adult onset phenotype. However, table 1 in PMID 31612321 provides a review of the reported variants and their associated clinical features, where a few cases occur after adolescence. This provides some justification for this gene being green on this adult onset panel.
Hereditary ataxia with onset in adulthood v2.52 ATP8A2 Sarah Leigh reviewed gene: ATP8A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary ataxia with onset in adulthood v2.35 ATP8A2 Sarah Leigh Publications for gene: ATP8A2 were set to 22892528; 29531481; 30012219; 31612321
Hereditary ataxia with onset in adulthood v2.34 ATP8A2 Sarah Leigh Publications for gene: ATP8A2 were set to 22892528; 31612321; 30012219
Hereditary ataxia with onset in adulthood v2.33 ATP8A2 Sarah Leigh Publications for gene: ATP8A2 were set to 22892528; 31612321
Hereditary ataxia with onset in adulthood v2.32 ATP8A2 Sarah Leigh Phenotypes for gene: ATP8A2 were changed from Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4 to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104
Hereditary ataxia with onset in adulthood v2.31 ATP8A2 Sarah Leigh Publications for gene: ATP8A2 were set to 22892528
Hereditary ataxia with onset in adulthood v2.9 ATP8A2 Zornitza Stark reviewed gene: ATP8A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4; Mode of inheritance: None
Hereditary ataxia with onset in adulthood v1.51 ATP8A2 Louise Daugherty Classified gene: ATP8A2 as Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.51 ATP8A2 Louise Daugherty Gene: atp8a2 has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v1.9 ATP8A2 Louise Daugherty Added phenotypes Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4 for gene: ATP8A2
Hereditary ataxia with onset in adulthood v1.8 ATP8A2 Louise Daugherty reviewed gene: ATP8A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 ATP8A2 Tracy Lester reviewed gene: ATP8A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.2 ATP8A2 Louise Daugherty Source NHS GMS was added to ATP8A2.
Hereditary ataxia with onset in adulthood v1.1 ATP8A2 Louise Daugherty Source Wessex and West Midlands GLH was added to ATP8A2.
Hereditary ataxia with onset in adulthood v0.2 ATP8A2 Eleanor Williams gene: ATP8A2 was added
gene: ATP8A2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8A2 were set to 22892528