BRIDGE_SPEED_NEURO_20170705
Gene: ATP6AP2

ATP6AP2 (ATPase H+ transporting accessory protein 2)
EnsemblGeneIds (GRCh38): ENSG00000182220
EnsemblGeneIds (GRCh37): ENSG00000182220
OMIM: 300556, Gene2Phenotype
ATP6AP2 is in 6 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_ddg2p_2_4_2017;in_omim_20150205_movement . Main mutation mechanism : Uncertain
Created: 28 Jul 2017, 8:43 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

25529582
omim.org

Created: 2 Aug 2017, 1:20 p.m.

Panel version: 0.191

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

BRIDGE study SPEED NEURO Tier1 Gene
Expert Review Green

Phenotypes

?Mental retardation, X-linked, syndromic, Hedera type, 300423
?Parkinsonism with spasticity, X-linked, 300911

OMIM

300556

Clinvar variants

Variants in ATP6AP2

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

ATP6AP2 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created