BRIDGE_SPEED_NEURO_20170705
Gene: C4orf26

C4orf26 (odontogenesis associated phosphoprotein)
EnsemblGeneIds (GRCh38): ENSG00000174792
EnsemblGeneIds (GRCh37): ENSG00000174792
OMIM: 614829, Gene2Phenotype
C4orf26 is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

added new-gene-name tag, new approved HGNC gene symbol is ODAPH
Created: 4 Sep 2017, 12:58 p.m.

Created: 4 Sep 2017, 12:58 p.m.

Panel version: 0.191

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, 8:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582

Created: 2 Aug 2017, 1:34 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

Amelogenesis imperfecta type, IIA4, 614832

Tags

new-gene-name

OMIM

614829

Clinvar variants

Variants in C4orf26

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

C4orf26 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

C4orf26 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

BRIDGE_SPEED_NEURO_20170705 Gene: C4orf26