WFS1

wolframin ER transmembrane glycoprotein
OMIM: 606201
PanelMode of inheritanceDetails
9 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome 1, OMIM:222300
R-numbers: R31
Signed-off version 4.14
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Cataract 41, 116400
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Wolfram-like syndrome, autosomal dominant, OMIM:614296, WOLFRAM SYNDROME 1, OMIM:222300
R-numbers: R54
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome 1, 222300
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome 1, OMIM:222300, Wolfram-like syndrome, autosomal dominant, OMIM:614296, Diabetes mellitus, noninsulin-dependent, association with, OMIM:125853
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
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
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: R143
Signed-off version 4.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Wolfram-like syndrome, autosomal dominant, OMIM:614296
R-numbers: R41
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome 1, OMIM:222300