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Ataxia - adult onset

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Ataxia is not a prominent feature of the phenotype.
Created: 27 Dec 2019, 4:14 a.m. | Last Modified: 27 Dec 2019, 4:14 a.m.
Panel Version: 0.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wilson disease, MIM#277900

Created: 27 Dec 2019, 4:14 a.m.
Last Modified: 27 Dec 2019, 4:14 a.m.
Panel version: 0.0

History Filter Activity

27 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

27 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp7b has been classified as Green List (High Evidence).

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATP7B was added gene: ATP7B was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP7B were set to Wilson disease 277900; Wilson disease, 277900