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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 |