BRIDGE_SPEED_NEURO_20170705
Gene: SLC4A11

SLC4A11 (solute carrier family 4 member 11)
EnsemblGeneIds (GRCh38): ENSG00000088836
EnsemblGeneIds (GRCh37): ENSG00000088836
OMIM: 610206, Gene2Phenotype
SLC4A11 is in 7 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_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 10:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582

Created: 2 Aug 2017, 7:12 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Corneal endothelial dystrophy 2, autosomal recessive, 217700
Corneal endothelial dystrophy and perceptive deafness, 217400
Corneal dystrophy, Fuchs endothelial, 4, 613268

OMIM

610206

Clinvar variants

Variants in SLC4A11

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

SLC4A11 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created