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Prepair 1000+

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

2 reviews

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

HGNC official name: ATP7B
Relationship between disease and gene is well established - large number of pathogenic variants identified.
Treatable condition, resulting in prevention of development/progression of clinical features.
Phenotype highly variable and does not show large genotype-phenotype correlation.
Age of onset highly variable, can be within childhood. Can result in liver failure if not identified and treated.
Widely available in commercial carrier screening panels.
Created: 17 Jul 2024, 6:30 a.m. | Last Modified: 17 Jul 2024, 6:30 a.m.
Panel Version: 1.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wilson disease

Publications

Created: 17 Jul 2024, 6:30 a.m.
Last Modified: 17 Jul 2024, 6:30 a.m.
Panel version: 1.7

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association. Age of onset range from three years to older than 60 years. However, early detection and treatment are critical to prevent lifelong neuropsychiatric, hepatic, and systemic disabilities. This condition also shows significant inter- and intra-familial variability.
Created: 21 Jul 2022, 4:52 a.m. | Last Modified: 21 Jul 2022, 4:52 a.m.
Panel Version: 0.58

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wilson disease (MIM#277900)

Publications

Created: 21 Jul 2022, 4:52 a.m.
Last Modified: 21 Jul 2022, 4:52 a.m.
Panel version: 0.58

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Wilson disease, 277900 (3) for gene: ATP7B

21 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATP7B were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP7B was added gene: ATP7B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP7B were set to Wilson disease, 277900 (3)