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Mendeliome

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 4 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

6 cases from 4 unrelated families with AMC as a feature of the phenotype PMID: 35077597 - 5 patients from 3 unrelated families with biallelic missense and splice site COL25A1 variants presenting with arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder phenotype PMID: 26437029 - Patient: 273182 in DECIPHER with compound het missense variants. Phenotype includes Congenital finger flexion contractures, Contracture of the distal interphalangeal joint of the 2nd finger, Duane anomaly
Created: 4 Feb 2022, 5:10 a.m. | Last Modified: 4 Feb 2022, 5:10 a.m.
Panel Version: 0.10918

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
arthrogryposis multiplex congenita MONDO:0015168

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 2643702 - Patient: 273182 reported in DECIPHER, chet COL25A1 missense variants (listed as Likely Pathogenic). Phenotype includes Duane anomaly of the eye.

PMID: 31875546 - Mouse models, including Col25a1 KO and muscle-specific KO mice showed a significant reduction in the number of motor neurons in the cranial nerve nuclei, including the oculomotor, trochlear, trigeminal, and facial motor nuclei. Abnormalities in motor innervation of muscles of the head, such as the extraocular and masseter muscles, were also observed

PMID: 31875546 - Functional studies in human cell lines showed that the reported COL25A1 variants (G382R and G497X) impaired the interaction of COL25A1 with receptor protein tyrosine phosphatases, thereby reducing the ability to attract motor axons.
Created: 23 Jul 2021, 3:26 a.m. | Last Modified: 23 Jul 2021, 3:26 a.m.
Panel Version: 0.8487
Two families reported: 25500261 - homozygous missense mutation in 3 affected siblings from a consanguineous family. Carrier parents and sib unaffected. Also reported an unrelated affected individual with compound het variants (nonsense variant and an intragenic deletion). His unaffected brother was heterozygous for the nonsense variant. 26486031 - reports the phenotypes of the patients previously reported in PMID 25500261
Created: 28 Oct 2020, 9:28 p.m. | Last Modified: 28 Oct 2020, 9:28 p.m.
Panel Version: 0.5159

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fibrosis of extraocular muscles, congenital, 5, MIM# 616219

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 5, MIM# 616219
  • arthrogryposis multiplex congenita MONDO:0015168
OMIM
610004
Clinvar variants
Variants in COL25A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: COL25A1 were changed from Fibrosis of extraocular muscles, congenital, 5, MIM# 616219 to Fibrosis of extraocular muscles, congenital, 5, MIM# 616219; arthrogryposis multiplex congenita MONDO:0015168

4 Feb 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: COL25A1 were set to 25500261; 26486031; 31875546; 26437029

23 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COL25A1 were set to 25500261; 26486031

23 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col25a1 has been classified as Green List (High Evidence).

28 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col25a1 has been classified as Amber List (Moderate Evidence).

28 Oct 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Oct 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COL25A1 were set to

28 Oct 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COL25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col25a1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL25A1 was added gene: COL25A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL25A1 was set to Unknown