06 May 2021
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.
06 May 2021
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
06 May 2021
Undiagnosed metabolic disorders v1.456
WFS1
Eleanor Williams reviewed gene: WFS1: Rating: ; Mode of pathogenicity: None; Publications: 33693650; Phenotypes: ; Mode of inheritance: None
16 Oct 2019
Undiagnosed metabolic disorders v1.387
WFS1
Catherine Snow Publications for gene: WFS1 were set to 27604308
16 Oct 2019
Undiagnosed metabolic disorders v1.386
WFS1
Catherine Snow Classified gene: WFS1 as Green List (high evidence)
16 Oct 2019
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.
16 Oct 2019
Undiagnosed metabolic disorders v1.386
WFS1
Catherine Snow Gene: wfs1 has been classified as Green List (High Evidence).
06 Jan 2017
Undiagnosed metabolic disorders
WFS1
Sarah Leigh edited their review of WFS1
06 Jan 2017
Undiagnosed metabolic disorders
WFS1
Sarah Leigh edited their review of WFS1
06 Jan 2017
Undiagnosed metabolic disorders
WFS1
Sarah Leigh edited their review of WFS1
06 Jan 2017
Undiagnosed metabolic disorders
WFS1
Sarah Leigh edited their review of WFS1
06 Jan 2017
Undiagnosed metabolic disorders
WFS1
Sarah Leigh edited their review of WFS1
06 Jan 2017
Undiagnosed metabolic disorders
WFS1
Sarah Leigh edited their review of WFS1
06 Jan 2017
Undiagnosed metabolic disorders
WFS1
Sarah Leigh edited their review of WFS1
06 Jan 2017
Undiagnosed metabolic disorders
WFS1
Sarah Leigh edited their review of WFS1
06 Jan 2017
Undiagnosed metabolic disorders
WFS1
Sarah Leigh edited their review of WFS1
06 Jan 2017
Undiagnosed metabolic disorders
WFS1
Sarah Leigh reviewed WFS1