BRIDGE_SPEED_NEURO_20170705
Gene: STAT1

STAT1 (signal transducer and activator of transcription 1)
EnsemblGeneIds (GRCh38): ENSG00000115415
EnsemblGeneIds (GRCh37): ENSG00000115415
OMIM: 600555, Gene2Phenotype
STAT1 is in 9 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;in_UKGTN_v12 . Main mutation mechanism : Loss of function; All missense/in frame
Created: 28 Jul 2017, 10:50 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

25529582
Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 7:31 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

Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892
Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796
Immunodeficiency 31C, autosomal dominant, 614162

OMIM

600555

Clinvar variants

Variants in STAT1

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

STAT1 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created