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Fetal anomalies

Gene: COL3A1

Green List (high evidence)

COL3A1 (collagen type III alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 11 panels

2 reviews

Catherine Snow (Genomics England)

Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital)
Created: 19 Aug 2020, 6:09 p.m. | Last Modified: 19 Aug 2020, 6:09 p.m.
Panel Version: 1.78

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

On OMIM COL3A1 has a polymicrogyria phenotype in the biallelic form, as well as talipes and other features (PMID: 28258187; PMID: 28742248; PMID: 25205403). No specifically prenatal reports of polymicrogyria in the literature but this feature would be detectable on fetal US and especially on fetal MRI.

A monoallelic COL3A1 variant has been reported in one case in a prenatal exome series (PMID: 27168972), causing EDS IV with a prenatal phenotype of forearm hypoplasia and phalangeal defects. PMID: 24922459 evidences that limb hypoplasia/limb reduction is observed in a small subset of EDS IV patients (5 unrelated cases), as well as talipes in a larger number, and occasionally facial clefts – all of which would be prenatally detectable features.
Sources: Literature
Created: 25 Jun 2020, 6:21 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
HP:0002126; HP:0001883; HP:0006496

Publications

History Filter Activity

19 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: col3a1 has been classified as Green List (High Evidence).

25 Jun 2020, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: COL3A1 was added gene: COL3A1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL3A1 were set to PMID: 28258187; 28742248; 25205403; 27168972; 24922459 Phenotypes for gene: COL3A1 were set to HP:0002126; HP:0001883; HP:0006496 Penetrance for gene: COL3A1 were set to Incomplete Review for gene: COL3A1 was set to GREEN