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  3. ATP7B
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Cerebral Palsy

Gene: ATP7B

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

1 review

Luisa Weiss (University of Adelaide)

Red List (low evidence)

One reported case in a large CP cohort study with two mutations in ATP7B, however bi-parental inheritance was not confirmed. Low evidence for causality.
Sources: Literature
Created: 23 May 2023, 1:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wilson disease MIM#277900

Publications

Created: 23 May 2023, 1:14 a.m.

Panel version: 1.36

History Filter Activity

30 May 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp7b has been classified as Red List (Low Evidence).

30 May 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp7b has been classified as Red List (Low Evidence).

23 May 2023, Gel status: 0

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

Luisa Weiss (University of Adelaide)

gene: ATP7B was added gene: ATP7B was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 34788679 Phenotypes for gene: ATP7B were set to Wilson disease MIM#277900 Review for gene: ATP7B was set to RED