Parkinson Disease and Complex Parkinsonism

Gene: ATP7B

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Parkinsonism is a prominent neurological feature of Wilson disease.
Sources: Expert list
Created: 25 Aug 2020, 9:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wilson disease MIM#277900

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

25 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ATP7B was added gene: ATP7B was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 17435591 Phenotypes for gene: ATP7B were set to Wilson disease MIM#277900 Review for gene: ATP7B was set to GREEN gene: ATP7B was marked as current diagnostic