BRIDGE_SPEED_NEURO_20170705
Gene: MT-ATP6

MT-ATP6 (mitochondrially encoded ATP synthase 6)
EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels

2 reviews

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 . Main mutation mechanism : NA
Created: 28 Jul 2017, 9:39 a.m.

Mode of inheritance
Unknown

Publications

Personal communication with NIHRBRRD BRIDGE SPEED

Created: 2 Aug 2017, 5:06 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: removed NA phenotype, to be reviewed if gene to be green on a panel that will be used in pipeline
Created: 31 Jul 2017, 12:46 p.m.

Created: 31 Jul 2017, 12:46 p.m.

Panel version: 0.101

Details

Mode of Inheritance

MITOCHONDRIAL

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

OMIM

516060

Clinvar variants

Variants in MT-ATP6

Penetrance

Complete

Panels with this gene