Bleeding and platelet disorders

Gene: CHST14

Amber List (moderate evidence)

CHST14 (carbohydrate sulfotransferase 14)
EnsemblGeneIds (GRCh38): ENSG00000169105
EnsemblGeneIds (GRCh37): ENSG00000169105
OMIM: 608429, Gene2Phenotype
CHST14 is in 17 panels

3 reviews

Mandy nesbitt (Healthcare Professional)

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

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 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.

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.

History Filter Activity

18 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: chst14 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 CHST14.

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 CHST14. Mode of inheritance for gene CHST14 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 601776 Ehlers-Danlos syndrome, musculocontractural type 1 for gene: CHST14 Publications for gene CHST14 were changed from to 20533528; 26373698; 25703627 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: CHST14 was added gene: CHST14 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CHST14 was set to