BRIDGE_SPEED_NEURO_20170705
Gene: SLC2A10

SLC2A10 (solute carrier family 2 member 10)
EnsemblGeneIds (GRCh38): ENSG00000197496
EnsemblGeneIds (GRCh37): ENSG00000197496
OMIM: 606145, Gene2Phenotype
SLC2A10 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, 10:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582

Created: 2 Aug 2017, 7:08 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE study SPEED NEURO Tier1 Gene
Expert Review Green

Phenotypes

Arterial tortuosity syndrome, 208050

OMIM

606145

Clinvar variants

Variants in SLC2A10

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

SLC2A10 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source