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Hereditary ataxia with onset in adulthood v6.7 NAA60 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: NAA60.
Tag Q2_24_NHS_review was removed from gene: NAA60.
Hereditary ataxia with onset in adulthood v6.7 NAA60 Achchuthan Shanmugasundram reviewed gene: NAA60: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v6.6 NAA60 Achchuthan Shanmugasundram Source NHS GMS was added to NAA60.
Source Expert Review Green was added to NAA60.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v5.4 NAA60 Sarah Leigh Phenotypes for gene: NAA60 were changed from NAA60 associated autosomal recessive primary familial brain calcifications to Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786; basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977
Hereditary ataxia with onset in adulthood v5.3 NAA60 Sarah Leigh Tag Q2_24_MOI was removed from gene: NAA60.
Hereditary ataxia with onset in adulthood v5.3 NAA60 Sarah Leigh edited their review of gene: NAA60: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v4.31 NAA60 Sarah Leigh commented on gene: NAA60: NAA60 should be green on the Hereditary ataxia with onset in adulthood as four of the families described in table 1 (PMID: 38480682), also displayed either cerebellar syndrome (which often includes ataxia) or cerebellar ataxia (personal communication from Helen Brittain (Genomics England Clinical Fellow).
Hereditary ataxia with onset in adulthood v4.31 NAA60 Sarah Leigh Tag Q2_24_MOI tag was added to gene: NAA60.
Hereditary ataxia with onset in adulthood v4.31 NAA60 Sarah Leigh Entity copied from White matter disorders and cerebral calcification - narrow panel v3.35
Hereditary ataxia with onset in adulthood v4.31 NAA60 Sarah Leigh gene: NAA60 was added
gene: NAA60 was added to Hereditary ataxia with onset in adulthood. Sources: Literature,Expert Review Amber
Q2_24_promote_green, Q2_24_NHS_review tags were added to gene: NAA60.
Mode of inheritance for gene: NAA60 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAA60 were set to 38480682
Phenotypes for gene: NAA60 were set to NAA60 associated autosomal recessive primary familial brain calcifications