Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial respiratory chain disorders (caused by nuclear variants only) ;Diabetes with additional phenotypes suggestive of a monogenic aetiology
Sarah Leigh Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Diabetes with additional phenotypes suggestive of a monogenic aetiology; Intellectual disability to Wolfram syndrome 2 604928
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as both RD and IF Gen2Phen gene. At least 3 variants reported in unrelated cases, together with segration and functional studies.