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Undiagnosed metabolic disorders v1.457 WFS1 Eleanor Williams Added comment: Comment on phenotypes: Original phenotypes were: Wolfram syndrome 1 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Congenital hearing impairment (profound/severe); Diabetes with additional phenotypes suggestive of a monogenic aetiology; Familial diabetes; Hereditary ataxia; Inherited optic neuropathies.
Undiagnosed metabolic disorders v1.457 WFS1 Eleanor Williams Phenotypes for gene: WFS1 were changed from Wolfram syndrome 1 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Congenital hearing impairment (profound/severe); Diabetes with additional phenotypes suggestive of a monogenic aetiology; Familial diabetes; Hereditary ataxia; Inherited optic neuropathies to Wolfram syndrome 1, OMIM:222300
Undiagnosed metabolic disorders v1.456 WFS1 Eleanor Williams reviewed gene: WFS1: Rating: ; Mode of pathogenicity: None; Publications: 33693650; Phenotypes: ; Mode of inheritance: None
Undiagnosed metabolic disorders v1.387 WFS1 Catherine Snow Publications for gene: WFS1 were set to 27604308
Undiagnosed metabolic disorders v1.386 WFS1 Catherine Snow Classified gene: WFS1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.386 WFS1 Catherine Snow Added comment: Comment on list classification: Promoted from Amber to Green. WFS1 is associated with an appropriate phenotype on OMIM and Gene2Phenotype. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.
Undiagnosed metabolic disorders v1.386 WFS1 Catherine Snow Gene: wfs1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh reviewed WFS1