BRIDGE_SPEED_NEURO_20170705
Gene: SLC39A8

SLC39A8 (solute carrier family 39 member 8)
EnsemblGeneIds (GRCh38): ENSG00000138821
EnsemblGeneIds (GRCh37): ENSG00000138821
OMIM: 608732, Gene2Phenotype
SLC39A8 is in 10 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_ddg2p_2_4_2017_conf . Main mutation mechanism : all missense/in frame
Created: 28 Jul 2017, 10:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582

Mode of pathogenicity
Other

Created: 2 Aug 2017, 7:11 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

Intellectual Disability with Cerebellar Atrophy

OMIM

608732

Clinvar variants

Variants in SLC39A8

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

SLC39A8 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created