Ehlers Danlos syndrome with a likely monogenic cause
Gene: COL1A1

COL1A1 (collagen type I alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000108821
EnsemblGeneIds (GRCh37): ENSG00000108821
OMIM: 120150, Gene2Phenotype
COL1A1 is in 12 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

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)

Created: 3 Apr 2019, 3:44 p.m.

Panel version: 1.43

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.

Created: 3 Apr 2019, 3:41 p.m.

Panel version: 1.42

Angela Brady (Nhs)

Green List (high evidence)

Created: 7 Jul 2017, 6:29 p.m.

Panel version: 0.401

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Created: 7 Jul 2017, 6:28 p.m.

Panel version: 0.401

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.

Created: 10 Apr 2017, 3:13 p.m.

Panel version: 0.122

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