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Wilson disease

Gene: ATP7B

Green List (high evidence)

ATP7B (ATPase copper transporting beta)
EnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 18 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

ATP7B has been added to the panel for R172 Wilson disease with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 5:07 p.m. | Last Modified: 30 Jun 2023, 5:07 p.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ATP7B was added gene: ATP7B was added to Wilson disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal