DDG2P
Gene: COL2A1

COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease ACHONDROGENESIS TYPE 2, OMIM:200610 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 14729840;15054848;7757081;3195588;1429602;7829510;1374906). The DDG2P confidence category for the disease SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, OMIM:184250 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 16088915;8486375;7550321). The DDG2P confidence category for the disease STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, OMIM:609508 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 17721977;15671297;16752401;15316962;8723097). The DDG2P confidence category for the disease SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, OMIM:183900 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 2543071;25060605;2339128;8423604;26626311;26358419;8325895;26443184). The DDG2P confidence category for the disease KNIEST DYSPLASIA, OMIM:156550 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 26626311;7874117;7981752;7849719;26443184).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

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

Phenotypes
ACHONDROGENESIS TYPE 2, OMIM:200610; STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, OMIM:609508; KNIEST DYSPLASIA, OMIM:156550; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, OMIM:183900; SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, OMIM:184250

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for ACHONDROGENESIS TYPE 2; KNIEST DYSPLASIA; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT;SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.
Created: 28 Jan 2019, 2:29 p.m.

Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:43 p.m.

Multiple MOPs in DD-G2P download: all missense/in frame, dominant negative, loss of function, uncertain. Multiple ratings in DD-G2P download: Rated confirmed for KNIEST DYSPLASIA 156550, ACHONDROGENESIS TYPE 2 200610, PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210, STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508, SPONDYLOPERIPHERAL DYSPLASIA 271700, SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250, RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508 and SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900. Rated as possible for PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805.
Created: 19 Nov 2018, 11:29 a.m.

Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.55

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

ACHONDROGENESIS TYPE 2 200610
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210
SPONDYLOPERIPHERAL DYSPLASIA 271700
PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805
SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900
RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508
KNIEST DYSPLASIA 156550
STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508

OMIM

120140

Clinvar variants

Variants in COL2A1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: COL2A1.

4 Oct 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: COL2A1 were updated from 8325895; 2339128; 8423604; 2543071 to 14729840; 2339128; 3195588; 8723097; 1429602; 8325895; 15054848; 7849719; 7829510; 26443184; 2543071; 16088915; 8486375; 26626311; 8423604; 15671297; 26358419; 7757081; 7550321; 16752401; 1374906; 17721977; 7981752; 25060605; 7874117; 15316962

29 Jan 2019, Gel status: 3