GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: CHST14

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Listed In sulphation disorders group of SD. AR. At least 3 cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 1 601776

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Ehlers-Danlos syndrome, musculocontractural type 1 601776

OMIM

608429

Clinvar variants

Variants in CHST14

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: CHST14 was added gene: CHST14 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 601776

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: CHST14