Inherited bleeding disorders

Gene: CHST14

Green List (high evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, musculocontractural type

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, musculocontractural type

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

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Approved Gene

Louise Daugherty (Genomics England Curator)

This proposed gene was validated and added to this panel

19 Dec 2016, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

CHST14 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

19 Dec 2016, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

CHST14 was created by BRIDGE

19 Dec 2016, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

CHST14 was added to Inherited bleeding disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)