Newborns main panel
Gene: ATP7B

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: If variants in ATP7B-related Wilson disease are considered for reporting, please contact Sammi Allouni ([email protected]) and Richard Thompson ([email protected]) before reporting to assess whether the variant(s) are likely to result in onset after age 5. We wish to avoid reporting later onset disease.
Created: 9 Jun 2026, 10:14 a.m. | Last Modified: 9 Jun 2026, 10:14 a.m.

Panel Version: 0.508

Created: 9 Jun 2026, 10:14 a.m.
Last Modified: 9 Jun 2026, 10:14 a.m.
Panel version: 0.508

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

ATP7B curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Wilson Disease

Tags

special_consideration

OMIM

606882

Clinvar variants

Variants in ATP7B

Penetrance

None

Panels with this gene

History Filter Activity

9 Jun 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: ATP7B.

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to ATP7B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2