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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. CHSY1
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: CHSY1

Green List (high evidence)
CHSY1 (chondroitin sulfate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000131873
EnsemblGeneIds (GRCh37): ENSG00000131873
OMIM: 608183, Gene2Phenotype
CHSY1 is in 11 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Listed in Brachydactylies (with extraskeletal manifestations) gp 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
Temtamy preaxial brachydactyly syndrome 605282

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
  • Temtamy preaxial brachydactyly syndrome 605282
OMIM
608183
Clinvar variants
Variants in CHSY1
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: CHSY1 was added gene: CHSY1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome 605282