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Prepair 1000+

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 18 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Limited evidence for recessive disease association.
Created: 9 Sep 2024, 3:26 a.m. | Last Modified: 9 Sep 2024, 3:26 a.m.
Panel Version: 1.286

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spondyloperipheral dysplasia, MIM #271700

Lauren Rogers (Victorian Clinical Genetics Services)

I don't know

Limited evidence for a recessive condition. 8 patients from 5 families, at least 2 mildly affected. Almost all literature dominant.

PMID: 31755234 (Girisha et al. 2020) six patients from 4 families, variability in phenotype.

PMID: 32896647 (Al-Sannaa et al 2020) two sibs from consang family with disproportionate short stature, ocular abnormalities, cleft palate and hearing impairment. Radiographic study showed signs of a spondyloepiphyseal dysplasia, compatible with a type 2 collagen disorder. Both siblings homozygous for c.3111+2T > C p.(Glu1 033Lysfs *5) splice site variant in the COL2A1 gene. Het parents phenotypically normal. cDNA analysis on skin fibroblasts demonstrated abberant splicing.
Created: 25 Jul 2024, 2:28 a.m. | Last Modified: 25 Jul 2024, 2:28 a.m.
Panel Version: 1.43

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spondyloperipheral dysplasia, MIM #271700

Publications

History Filter Activity

9 Sep 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col2a1 has been classified as Red List (Low Evidence).

9 Sep 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col2a1 has been classified as Red List (Low Evidence).

1 Jun 2022, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL2A1 was added gene: COL2A1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission Mode of inheritance for gene: COL2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL2A1 were set to 32896647; 31755234 Phenotypes for gene: COL2A1 were set to Spondyloperipheral dysplasia, MIM #271700