Ehlers Danlos syndromes

Gene: COL1A1

Green List (high evidence)

COL1A1 (collagen type I alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000108821
EnsemblGeneIds (GRCh37): ENSG00000108821
OMIM: 120150, Gene2Phenotype
COL1A1 is in 14 panels

6 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS (rare);cEDS;Ehlers-Danlos syndrome, type VIIA, 130060;Arthrochalasia EDS;aEDS;Vascular EDS (rare);vEDS
Created: 18 Mar 2021, 1:39 p.m. | Last Modified: 18 Mar 2021, 1:39 p.m.
Panel Version: 2.19

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: COL1A1; 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)

In relation to the EDS pathogenetic scheme, COL1A1 belongs 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: 10 Apr 2017, 3:13 p.m.
Comment on publications: Added publications for evidence of gene-phenotype relationship to reflect current classification of EDS.
Created: 10 Apr 2017, 3:11 p.m.
This is a rare dominant form of classical EDS, leading to Arg to Cys substitution, the more prevalent forms relate to variants in COL5A1 and COL5A2
Created: 10 Apr 2017, 1:21 p.m.
Comment on phenotypes: Updated phenotypes in view of current nomenclature in OMIM and recent paper on EDS classification from 2017 International Classification of the Ehlers–Danlos Syndromes (PMID:28306229), The Ehlers–Danlos Syndromes, rare types (PMID:28306225) and Ehlers-Danlos syndrome, classical type (PMID:28192633)
Created: 10 Apr 2017, 12:57 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, OMIM:619115
OMIM
120150
Clinvar variants
Variants in COL1A1
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: COL1A1 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS (rare); cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS; aEDS; Vascular EDS (rare); vEDS to Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, OMIM:619115

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL1A1. 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 Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL1A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS (rare); cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS; aEDS; Vascular EDS (rare); vEDS

10 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL1A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS; aEDS; Vascular EDS (rare); vEDS

10 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL1A1 were set to 28306229; 28306225; 28192633; 17211858; 10739762; 23587214; 2559765; 18409203; 9295084; 1867198

10 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL1A1 were set to 28306229;28306225;28192633;17211858;10739762;23587214;2559765;18409203; 9295084;1867198;

10 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL1A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Ehlers-Danlos syndrome, type 7A; Arthrochalasia EDS (rare); aEDS; Vascular EDS (rare); vEDS;Arterial-Ecchymotic EDS

10 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL1A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Ehlers-Danlos syndrome, type 7A; Arthrochalasia EDS (rare); aEDS; Vascular EDS (rare); vEDS

10 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL1A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS (rare); aEDS; Vascular EDS (rare); vEDS; Ehlers-Danlos syndrome, type 7A

10 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL1A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS (rare); aEDS; Vascular EDS (rare); vEDS

10 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL1A1 were set to 28306229;28306225;28192633

10 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL1A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome, type VIIA, 130060;Arthrochalasia EDS;aEDS;

29 Mar 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL1A1 were set to

29 Mar 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL1A1 were set to Ehlers-Danlos Syndrome, Classic; Ehlers Danlos syndrome, type I, 130000; Ehlers Danlos syndrome, type VIIA, 130060

29 Mar 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL1A1 were set to 28306229

29 Mar 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL1A1 were set to Ehlers-Danlos Syndrome, Classic ; Ehlers Danlos syndrome, type I, 130000; Ehlers Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS, (aEDS)

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL1A1 was created by ellenmcdonagh

24 Jan 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

COL1A1 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