Brain channelopathy

Gene: ATP7B

Green List (high evidence)

ATP7B (ATPase copper transporting beta)
EnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 17 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

The neurologic presentation of Wilson disease can include movement disorder
Created: 23 Jan 2017, 2:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wilson disease 277900

Publications

History Filter Activity

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Jan 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1. January 23 2017

23 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Jan 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

ATP7B was added to Brain channelopathypanel. Sources: Expert Review

23 Jan 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

ATP7B was created by arianna