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  3. COL25A1
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Congenital fibrosis of the extraocular muscles

Gene: COL25A1

Green List (high evidence)
COL25A1 (collagen type XXV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000188517
EnsemblGeneIds (GRCh37): ENSG00000188517
OMIM: 610004, Gene2Phenotype
COL25A1 is in 6 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 6 Dec 2024, 11:22 a.m. | Last Modified: 6 Dec 2024, 11:22 a.m.
Panel Version: 1.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 6 Dec 2024, 11:22 a.m.
Last Modified: 6 Dec 2024, 11:22 a.m.
Panel version: 1.18

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on gene classification: There is sufficient evidence (five unrelated cases) for promoting this gene to GREEN at the next major review.

PMID:35077597 reported five patients from three unrelated families identified with biallelic variants in COL25A1 gene. Of these four patients from three families had ocular congenital cranial dysinnervation disorder phenotype.

This gene has been associated with this phenotype in both OMIM and Gene2Phenotype (with 'strong' rating).
Created: 28 Mar 2023, 1:45 p.m. | Last Modified: 28 Mar 2023, 1:48 p.m.
Panel Version: 1.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fibrosis of extraocular muscles, congenital, 5, OMIM:616219

Publications

Created: 28 Mar 2023, 1:45 p.m.
Last Modified: 28 Mar 2023, 1:48 p.m.
Panel version: 1.12

Morag Shanks (Oxford Medical Genetics laboratory)

I don't know

Patients with CCDD - Initial family varaint Gly382Arg segregates with 4 affected sibs. Further 41 pts screened Gly497* and 12.4kb deletion ex4-10 identified in a patient with DRS.
Created: 21 Mar 2019, 10:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fibrosis of extraocular muscles, congenital, 5 616219

Publications

Created: 21 Mar 2019, 10:12 a.m.

Panel version: 0.8

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

PMID:25500261 reports a consanguineous family with a homozygous missense variant in COL25A1 and a second simplex compound heterozygote for a nonsense mutation and a 12.4 kb deletion spanning exons 4–10 of COL25A1. All affected individuals had features of congenital cranial dysinnervation disorder.
Sources: Literature
Created: 16 Feb 2019, 1:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fibrosis of extraocular muscles, congenital, 5

Publications

Created: 16 Feb 2019, 1:58 a.m.

Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 5, OMIM:616219
OMIM
610004
Clinvar variants
Variants in COL25A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2024, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_23_promote_green was removed from gene: COL25A1.

6 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to COL25A1. Source Expert Review Green was added to COL25A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

28 Mar 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_23_promote_green tag was added to gene: COL25A1.

28 Mar 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: COL25A1 were set to 25500261

3 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COL25A1 were changed from Fibrosis of extraocular muscles, congenital, 5 616219; Fibrosis of extraocular muscles, congenital, 5 to Fibrosis of extraocular muscles, congenital, 5, OMIM:616219

21 Mar 2019, Gel status: 2

Added New Source, Added New Source, Set Phenotypes, Status Update

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to COL25A1. Source Expert Review Amber was added to COL25A1. Added phenotypes Fibrosis of extraocular muscles, congenital, 5 616219 for gene: COL25A1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

16 Feb 2019, Gel status: 1

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

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

gene: COL25A1 was added gene: COL25A1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL25A1 were set to 25500261 Phenotypes for gene: COL25A1 were set to Fibrosis of extraocular muscles, congenital, 5 Review for gene: COL25A1 was set to AMBER