BRIDGE_SPEED_NEURO_20170705
Gene: AFG3L2

AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 20 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_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_omim_20150205_movement;in_movement_disorder_list . Main mutation mechanism : Loss of function; All missense/in frame
Created: 28 Jul 2017, 8:37 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

25529582
omim.org
Personal communication with NIHRBRRD BRIDGE SPEED

Created: 2 Aug 2017, 1:10 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Spinocerebellar ataxia 28, 610246
Ataxia, spastic, 5, autosomal recessive, 614487

OMIM

604581

Clinvar variants

Variants in AFG3L2

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

AFG3L2 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created