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Bleeding and platelet disorders

Gene: COL1A1

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

3 reviews

Zornitza Stark (Australian Genomics)

I don't know

This EDS seems to have predominantly a joint laxity/dislocation phenotype.
Created: 11 Aug 2020, 8:51 a.m. | Last Modified: 11 Aug 2020, 8:51 a.m.
Panel Version: 1.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM# 130060

Created: 11 Aug 2020, 8:51 a.m.
Last Modified: 11 Aug 2020, 8:51 a.m.
Panel version: 1.4

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, 11:34 a.m. | Last Modified: 22 Aug 2019, 11:34 a.m.
Panel Version: 0.77
Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.
Created: 22 Jul 2019, 10:36 a.m. | Last Modified: 22 Jul 2019, 10:36 a.m.
Panel Version: 0.70
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. Suggested Green rating as it is associated with mild forms of EDS. Decided to rate as Amber and marked for further discussion as to inclusion of EDS genes on this panel.

Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc) comment on COL1A1: We thought that this was agreed as GREEN on the call.
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: COL1A1; 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: 130060 Ehlers-Danlos syndrome, arthrochalasia type, 1; 114000 Caffey disease; PMID(s): 27011056
Created: 5 Feb 2019, 1:26 p.m.
Created: 5 Feb 2019, 1:26 p.m.

Panel version: 0.77

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

Created: 5 Feb 2019, 11:19 a.m.

Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • 114000 Caffey disease
  • 130060 Ehlers-Danlos syndrome, arthrochalasia type, 1
OMIM
120150
Clinvar variants
Variants in COL1A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: col1a1 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 COL1A1.

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 COL1A1. Mode of inheritance for gene COL1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes 114000 Caffey disease; 130060 Ehlers-Danlos syndrome, arthrochalasia type, 1 for gene: COL1A1 Publications for gene COL1A1 were changed from to 27011056 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: COL1A1 was added gene: COL1A1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: COL1A1 was set to