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Incidentalome

Gene: ATP7B

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

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene causative of Wilson Disease (Gene Review - NBK1512)
Created: 28 Mar 2023, 11:29 p.m. | Last Modified: 28 Mar 2023, 11:29 p.m.
Panel Version: 0.223

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wilson Disease (MONDO:0010200; MIM #277900)

Publications

Created: 28 Mar 2023, 11:29 p.m.
Last Modified: 28 Mar 2023, 11:29 p.m.
Panel version: 0.223

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wilson disease, MIM# 277900

Created: 30 Jul 2020, 8:06 a.m.
Last Modified: 30 Jul 2020, 8:06 a.m.
Panel version: Imported from Additional findings_Adult panel version 0.11

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Reported as an alzheimers disease susceptibility loci. Cognitive decline and dementia are not prominent features of the neurological phenotype of Wilson's disease.
Created: 5 Feb 2020, 11 a.m. | Last Modified: 5 Feb 2020, 11 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wilson disease MIM#277900

Publications

Created: 5 Feb 2020, 11 a.m.
Last Modified: 5 Feb 2020, 11 a.m.
Panel version: Imported from Early-onset Dementia panel version 0.130

History Filter Activity

21 Aug 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ATP7B were set to

21 Aug 2023, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag treatable tag was added to gene: ATP7B.

21 Aug 2023, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

21 Aug 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ATP7B were changed from to Wilson Disease (MONDO:0010200; MIM #277900)

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP7B was added gene: ATP7B was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATP7B was set to Unknown