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Retinal disorders

Gene: COL2A1

Red List (low evidence)

COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 21 panels

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

COL2A1 is a green gene on the Stickler syndrome panel (code 3, version 2.0). After discussion with Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital) it was decided that it is all right to leave COL2A1 off this panel (Retinal disorders)
Created: 30 Aug 2019, 2:52 p.m. | Last Modified: 30 Aug 2019, 2:52 p.m.
Panel Version: 1.160

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

overlapping phenotype - Stickler
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mutation mechanism (not loss of function) is Uncertain/Dominant negative
Created: 17 Jan 2017, 4:29 p.m.

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

Phenotypes
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC; Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR); Achondrogenesis type 2 (ACG2); Legg-Calve-Perthes disease (LCPD); Kniest dysplasia (KD); Primary avascular necrosis of femoral head (ANFH); osteoarthritis with mild chondrodysplasia (OACD); platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T); multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD); spondyloperipheral dysplasia (SPD) [MIM:271700]; Stickler syndrome type 1 non-syndromic ocular (STL1O); rhegmatogenous retinal detachment autosomal dominant (DRRD)

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to COL2A1.

9 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL2A1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL2A1 was created by ellenmcdonagh