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Mackenzie's Mission_Reproductive Carrier Screening

Gene: COL2A1

Amber List (moderate evidence)

COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 18 panels

1 review

Sarah Righetti (University of New South Wales)

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: 6 Nov 2020, 4:59 a.
Created: 6 Nov 2020, 4:59 a.m. | Last Modified: 6 Nov 2020, 4:59 a.m.
Panel Version: 0.47

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spondyloperipheral dysplasia, MIM #271700

Publications

History Filter Activity

7 May 2021, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: col2a1 has been classified as Amber List (Moderate Evidence).

7 May 2021, Gel status: 2

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: COL2A1 were changed from Otospondylomegaepiphyseal dysplasia, 215150 (3) to Spondyloperipheral dysplasia, MIM #271700

7 May 2021, Gel status: 2

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: COL2A1 were set to

7 May 2021, Gel status: 2

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: COL2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

7 May 2021, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: col2a1 has been classified as Amber List (Moderate Evidence).

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL2A1 was added gene: COL2A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL2A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL2A1 were set to Otospondylomegaepiphyseal dysplasia, 215150 (3)