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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

4 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Good evidence for gene-disease association; this paper demonstrates that can present prenatally (and incidentally comments that this supports gene-agnostic testing rather than R21!)
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Steel syndrome, OMIM:615155; Steel syndrome, MONDO:0014061

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

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
  • Steel syndrome, MONDO:0014061
Tags
Q3_26_promote_green
OMIM
608461
Clinvar variants
Variants in COL27A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2026, Gel status: 2

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q3_26_promote_green tag was added to gene: COL27A1.

29 Oct 2026, Gel status: 2

Set Phenotypes, Set publications

Ida Ertmanska (Genomics England Curator)

Added phenotypes Steel syndrome, OMIM:615155; Steel syndrome, MONDO:0014061 for gene: COL27A1 Publications for gene: COL27A1 were updated from 24986830; 28276056; 28322503 to 28276056; 28322503; 24986830; 41139937

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