WFS1

wolframin ER transmembrane glycoprotein
OMIM: 606201
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome 1, 222300
Green
in Cataracts
R-numbers: R31
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Cataract 41, 116400
R-numbers: R143
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Syndromic neonatal diabetes, Wolfram syndrome, 222300
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
hearing loss, Wolfram syndrome, 222300, Nonsyndromic Hearing Loss, Dominant, Deafness, autosomal dominant 6/14/38, 600965, Wolfram-like syndrome, autosomal dominant, 614296
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome 1, 222300
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Diabetes with additional phenotypes suggestive of a monogenic aetiology, Inherited optic neuropathies, Wolfram syndrome 1, 222300, Mitochondrial respiratory chain disorders caused by nuclear variants only, Hereditary ataxia, Familial diabetes, Congenital hearing impairment (profound/severe)
R-numbers: R141
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
diabetes insipidus or optic atrophy, Wolfram-like syndrome, autosomal dominant, 614296, Deafness, autosomal dominant 6/14/38, 600965, {Diabetes mellitus, noninsulin-dependent,association with}, Deafness,autosomal dominant 6/14/38, 600965, Wolfram syndrome, 222300, {Diabetes mellitus, noninsulin-dependent, association with}, 125853, ?Cataract 41,116400
R-numbers: R41, R42.2
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome