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  3. COL27A1
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Fetal anomalies

Gene: COL27A1

Amber List (moderate evidence)
COL27A1 (collagen type XXVII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000196739
EnsemblGeneIds (GRCh37): ENSG00000196739
OMIM: 608461, Gene2Phenotype
COL27A1 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Canham (Liverpool Women's Hospital)

I don't know

Three papers with three families (and a founder mutation), but unconvincing that the phenotype would present prenatally, no comment on any neonatal findings. Amber - no evidence of prenatal phenotype.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Steel syndrome, OMIM:615155

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Steel syndrome, OMIM:615155
OMIM
608461
Clinvar variants
Variants in COL27A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: COL27A1 was added gene: COL27A1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL27A1 were set to 24986830; 28276056; 28322503 Phenotypes for gene: COL27A1 were set to Steel syndrome, OMIM:615155