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Inborn errors of metabolism

Gene: ATP7B

Green List (high evidence)

ATP7B (ATPase copper transporting beta)
EnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 15 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Wilson disease (Disorder of copper metabolism); Early onset dystonia
Created: 6 Mar 2017, 12:41 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. More than 20 variants reported
Created: 6 Mar 2017, 12:41 p.m.
Comment on phenotypes: Wilson disease (Disorder of copper metabolism); Early onset dystonia
Created: 6 Mar 2017, 12:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early onset dystonia

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ATP7B. Source London North GLH was added to ATP7B.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ATP7B was added gene: ATP7B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 27604308 Phenotypes for gene: ATP7B were set to Wilson disease