Genomics England

WFS1

wolframin ER transmembrane glycoprotein

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.40	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Wolfram syndrome 1, OMIM:222300
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.0	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 3.79	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Wolfram-like syndrome, autosomal dominant, OMIM:614296, WOLFRAM SYNDROME 1, OMIM:222300
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.26	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Wolfram syndrome 1, 222300
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	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
Green in Monogenic diabetes 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
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.23	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
Green in Neonatal diabetes R-numbers: R143 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Wolfram-like syndrome, autosomal dominant, OMIM:614296
Green in Optic neuropathy R-numbers: R41 Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Wolfram syndrome 1, OMIM:222300