Bleeding and platelet disorders

Gene: COL3A1

Amber List (moderate evidence)

COL3A1 (collagen type III alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 11 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Correspondence from Dr Neeti Ghali & Dr Fleur van Dijk, Consultant Clinical Geneticists, EDS National Diagnostic Service (15/07/2021) indicating that inclusion of COL3A1 as Green on this panel would be beneficial as they receive referrals from haematologists asking to consider this form of vascular EDS, associated with significant bruising and haematoma formation.
Created: 15 Jul 2021, 3:56 p.m. | Last Modified: 15 Jul 2021, 3:56 p.m.
Panel Version: 1.30
Inclusion of EDS genes on this panel is subject to discussion by the Specialist Test Group, and any updates are currently under NHS governance processes.

If inclusion is agreed, a rating upgrade from Amber to Green is recommended in accordance with the review by Zornitza Stark.
Created: 17 Sep 2020, 11:28 a.m. | Last Modified: 17 Sep 2020, 11:28 a.m.
Panel Version: 1.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Ehlers-Danlos syndrome, vascular type, 130050

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Abnormal bleeding as a result of blood vessel rupture is a key part of the phenotype of this particular EDS.
Created: 11 Aug 2020, 8:53 a.m. | Last Modified: 11 Aug 2020, 8:53 a.m.
Panel Version: 1.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ehlers-Danlos syndrome, vascular type, MIM# 130050

Variants in this GENE are reported as part of current diagnostic practice

Mandy nesbitt (Healthcare Professional)

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
130050 Ehlers-Danlos syndrome, vascular type; 618343 Polymicrogyria with or without vascular-type EDS

Louise Daugherty (Genomics England Curator)

I don't know

The Specialist Test Group discussed the inclusion of EDS genes on this panel and if included, what rating they should be. EDS genes are currently all rated as Amber until further discussion with EDS experts
Created: 22 Aug 2019, 11:35 a.m. | Last Modified: 22 Aug 2019, 11:35 a.m.
Panel Version: 0.77
Discussed further with the GMS Haematology Specialist Test Group at workshop 2nd July 2019, it was agreed that Carl Fratter would review the evidence on COL3A1 by contacting their Thrombogenomics team to ask if they are able to provide any information on their experience, as they have included these genes in their panel. Gene rating to be confirmed when group has this information.

Carl Fratter has since highlighted a report (PMID: 30690834) with a family with COL3A1 who presented with bruising (prepositus/family 3), noting it’s complicated by the fact that they are reporting it because of a VWF variant of uncertain significance (which is quite common in the general population, and so perhaps not likely to be very significant), but does appear to be an example of COL3A1 related EDS which was not obvious clinically and patient was referred for easy bruising before EDS was diagnosed. Awaiting consensus from the GMS Haematology Specialist Test Group regarding this
Created: 22 Jul 2019, 10 a.m. | Last Modified: 22 Jul 2019, 10 a.m.
Panel Version: 0.69
Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019; Sheffield would rate this gene as Red, Oxford would rate this gene as Green. Discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: Suggested Red rating as causes severe form of EDS. Decided to rate as Amber and marked for further discussion as to inclusion of EDS genes on this panel.
Created: 18 Mar 2019, 4:01 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: COL3A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 130050 Ehlers-Danlos syndrome, vascular type; PMID(s): 22143279; 25758994; 22019127
Created: 5 Feb 2019, 1:26 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 5 Feb 2019, 11:19 a.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Ehlers-Danlos syndrome, vascular type, 130050
Tags
Q3_21_NHS_review Q3_21_expert_review
OMIM
120180
Clinvar variants
Variants in COL3A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2021, Gel status: 2

Removed Tag, Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_expert_review was removed from gene: COL3A1. Tag Q3_21_NHS_review tag was added to gene: COL3A1. Tag Q3_21_expert_review tag was added to gene: COL3A1.

15 Jul 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: COL3A1.

17 Sep 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: COL3A1 were changed from 130050 Ehlers-Danlos syndrome, vascular type to Ehlers-Danlos syndrome, vascular type, 130050

22 Jul 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: COL3A1 were set to 22019127; 25758994; 22143279

18 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: col3a1 has been classified as Amber List (Moderate Evidence).

5 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COL3A1.

5 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to COL3A1. Mode of inheritance for gene COL3A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes 130050 Ehlers-Danlos syndrome, vascular type for gene: COL3A1 Publications for gene COL3A1 were changed from to 22019127; 25758994; 22143279 Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: COL3A1 was added gene: COL3A1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: COL3A1 was set to