BRIDGE_SPEED_NEURO_20170705
Gene: COL2A1

COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 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 : Uncertain; Dominant negative
Created: 28 Jul 2017, 8:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

25529582
Version 12 ukgtn.nhs.uk

Mode of pathogenicity

Created: 2 Aug 2017, 2:05 p.m.

Panel version: 0.191

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Stickler syndrome, type I, 108300
Kniest dysplasia, 156550
Achondrogenesis, type II or hypochondrogenesis, 200610
SED congenita, 183900
SMED Strudwick type, 184250
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
Spondyloperipheral dysplasia, 271700
SED, Namaqualand type
Osteoarthritis with mild chondrodysplasia, 604864
Vitreoretinopathy with phalangeal epiphyseal dysplasia
Platyspondylic skeletal dysplasia, Torrance type, 151210
Otospondylomegaepiphyseal dysplasia, 215150
Avascular necrosis of the femoral head, 608805
Legg-Calve-Perthes disease, 150600
Stickler sydrome, type I, nonsyndromic ocular, 609508
Czech dysplasia, 609162

OMIM

120140

Clinvar variants

Variants in COL2A1

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

COL2A1 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source