Ehlers Danlos syndromes

Gene: COL1A2

Green List (high evidence)

COL1A2 (collagen type I alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000164692
EnsemblGeneIds (GRCh37): ENSG00000164692
OMIM: 120160, Gene2Phenotype
COL1A2 is in 10 panels

6 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type VIIB (AD), 130060;Ehlers-Danlos Syndrome, Arthrochalasia Type;Arthrochalasia EDS;aEDS;Ehlers Danlos syndrome, cardiac valvular form (AR), 225320;Cardiac-valvular EDS;cvEDS
Created: 18 Mar 2021, 1:43 p.m. | Last Modified: 18 Mar 2021, 1:43 p.m.
Panel Version: 2.20

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL1A2; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Comment on publications: Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225): Cases with Arthrochalasia EDS Giunta et al., 2008 (PMID:18409203); Weil et al,. 1998 (PMID:2454224); Nicholls et al., 1991 (PMID:1712342); Byers et al. 1997 (PMID:9295084)
Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225): Cases with Cardiac-valvular EDS due to variants in the gene COL1A2. To date, six patients from five independent families have been reported. Hata et al., 1988 (PMID:3383844); Kojima et al., 1988 (PMID:3049731); Nicholls et al., 2001 (PMID:11288717); Schwarze et al., 2004 (PMID:15077201); Malfait et al., 2006 (PMID:16816023).
Created: 13 Apr 2017, 12:57 p.m.
Comment on publications: The 2017 International Classification of the Ehlers–Danlos Syndromes. Malfait et al., 2017 (PMID:28306229), Ehlers–Danlos Syndromes, Rare Types. Brady et al., 2017 (PMID:28306225)
Created: 13 Apr 2017, 8:39 a.m.
In relation to the EDS pathogenetic scheme, both EDS disorders associated to COL1A2 belong to 'Disorders of collagen primary structure and collagen processing'. The scheme regroups EDS subtypes for which the proteins, coded by the causative genes, function within the same pathway, and which are likely to have shared pathogenic mechanisms, based on current knowledge.
Created: 12 Apr 2017, 2:23 p.m.
Comment on phenotypes: Amended phenotype based on updated to OMIM, Orphanet and 2017 International Classification of the Ehlers–Danlos Syndromes (PMID:28306229)
Created: 12 Apr 2017, 1:55 p.m.
Comment on mode of inheritance: COL1A2 variants that result in Cardiac-valvular EDS is a biallelic form of EDS, whereas COL1A2 variants that result in Arthrochalasia EDS is a more common monoallelic form of EDS.
Created: 12 Apr 2017, 12:38 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, OMIM:619120
  • Ehlers-Danlos syndrome, arthrochalasia type, 2, OMIM:617821
  • Ehlers-Danlos syndrome, cardiac valvular type, OMIM:225320
OMIM
120160
Clinvar variants
Variants in COL1A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COL1A2 were changed from Ehlers Danlos syndrome, type VIIB (AD), 130060; Ehlers-Danlos Syndrome, Arthrochalasia Type; Arthrochalasia EDS; aEDS; Ehlers Danlos syndrome, cardiac valvular form (AR), 225320; Cardiac-valvular EDS; cvEDS to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, OMIM:619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, OMIM:617821; Ehlers-Danlos syndrome, cardiac valvular type, OMIM:225320

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL1A2. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

13 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL1A2 were set to 28306229;28306225; 22892533;18409203;2454224;1712342;9295084;3383844;3049731;11288717;15077201;16816023

13 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL1A2 were set to 28306229;28306225

12 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL1A2 were set to Ehlers Danlos syndrome, type VIIB (AD), 130060; Ehlers-Danlos Syndrome, Arthrochalasia Type; Arthrochalasia EDS; aEDS; Ehlers Danlos syndrome, cardiac valvular form (AR), 225320; Cardiac-valvular EDS; cvEDS

12 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL1A2 were set to Ehlers Danlos syndrome, type VIIB, 130060 (AD); Ehlers-Danlos Syndrome, Arthrochalasia Type; Arthrochalasia EDS; aEDS; Ehlers Danlos syndrome, cardiac valvular form (AR), 225320; Cardiac-valvular EDS; cvEDS

12 Apr 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for COL1A2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

24 Jan 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

COL1A2 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory,Expert Review Green

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL1A2 was created by ellenmcdonagh