BRIDGE_SPEED_NEURO_20170705
Gene: IGF2

IGF2 (insulin like growth factor 2)
EnsemblGeneIds (GRCh38): ENSG00000167244
EnsemblGeneIds (GRCh37): ENSG00000167244
OMIM: 147470, Gene2Phenotype
IGF2 is in 8 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 : Activating; Loss of function
Created: 28 Jul 2017, 9:26 a.m.

Mode of inheritance
Unknown

Publications

25529582
Version 12 ukgtn.nhs.uk

Mode of pathogenicity

Created: 2 Aug 2017, 4:12 p.m.

Panel version: 0.191

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Beckwith-Wiedemann Syndrome
Chromosome 11p15.5-Related Russell-Silver Syndrome

OMIM

147470

Clinvar variants

Variants in IGF2

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IGF2 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created