Bleeding and platelet disorders

Gene: CHST14

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that there is enough evidence to promote CHST14 to green.

Created: 4 Mar 2022, 9:41 a.m. | Last Modified: 4 Mar 2022, 9:41 a.m.

Panel Version: 1.33

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 as recurrent large subcutaneous hematomas are commonly seen in patients with CHST14-associated EDS.

Created: 17 Sep 2020, 10:49 a.m. | Last Modified: 17 Sep 2020, 10:49 a.m.

Panel Version: 1.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 1, 601776

Publications

• 20004762
• 26373698
• 26646600

Green List (high evidence)

Large haematomas are a feature of this particular EDS -- we have rated the gene Green on our panel.

Created: 11 Aug 2020, 8:49 a.m. | Last Modified: 11 Aug 2020, 8:49 a.m.

Panel Version: 1.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776

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

Red List (low evidence)

More appropriate in the EDS panel

Created: 16 Jul 2019, 1:41 p.m. | Last Modified: 16 Jul 2019, 1:41 p.m.

Panel Version: 0.68

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
601776 Ehlers-Danlos syndrome, musculocontractural type 1

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 CHST14 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.

Created: 22 Jul 2019, 9:56 a.m. | Last Modified: 22 Jul 2019, 9:56 a.m.

Panel Version: 0.69

Comment on list classification: 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, 3:58 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: CHST14; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 601776 Ehlers-Danlos syndrome, musculocontractural type 1; PMID(s): 20533528; 25703627; 26373698

Created: 5 Feb 2019, 1:26 p.m.

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.