Clefting
Gene: CHSY1

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

1 review

Louise Daugherty (Genomics England Curator)

Comment on list classification: Not a clear feature of the syndrome and it is represented on more appropriate panels (CHST1 is rated Green on the Unexplained skeletal dysplasia panel V1.35)
Created: 31 May 2017, 10:07 a.m.

Comment on publications: Only one case reported (2004) with a cleft palate PMID: 15365460
Created: 31 May 2017, 10:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Temtamy preaxial brachydactyly syndrome,

Created: 31 May 2017, 9:54 a.m.

Panel version: 0.276

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list

Phenotypes

Temtamy preaxial brachydactyly syndrome, 605282
TPBS

OMIM

608183

Clinvar variants

Variants in CHSY1

Penetrance

Complete

Publications

15365460

Panels with this gene