BRIDGE_SPEED_NEURO_20170705
Gene: ATP7B

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_movement_disorder_list;in_UKGTN_v12 . Main mutation mechanism : NA
Created: 28 Jul 2017, 8:45 a.m.

Mode of inheritance
Unknown

Publications

Personal communication with NIHRBRRD BRIDGE SPEED
Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 1:21 p.m.

Panel version: 0.191

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Wilson disease, 277900

OMIM

606882

Clinvar variants

Variants in ATP7B

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

ATP7B was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source