Leukodystrophy - adult onset

Gene: ATP7B

Amber List (moderate evidence)

ATP7B (ATPase copper transporting beta)
EnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 22 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

White matter changes have been reported in Wilson's disease, but it doesn't appear to be a common feature of the condition.
Sources: Expert list
Created: 18 Jan 2020, 1:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wilson disease, 277900

Publications

History Filter Activity

3 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp7b has been classified as Amber List (Moderate Evidence).

18 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp7b has been classified as Amber List (Moderate Evidence).

18 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ATP7B was added gene: ATP7B was added to Leukodystrophy - adult onset. Sources: Expert list Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 16966556; 12020274 Phenotypes for gene: ATP7B were set to Wilson disease, 277900 Review for gene: ATP7B was set to AMBER