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  2. Hand and foot malformations
  3. CHSY1
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Hand and foot malformations

Gene: CHSY1

Green List (high evidence)
CHSY1 (chondroitin sulfate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000131873
EnsemblGeneIds (GRCh37): ENSG00000131873
OMIM: 608183, Gene2Phenotype
CHSY1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Skeletal anomalies, dysmorphic features and deafness. More than 5 unrelated families reported.
Created: 21 Dec 2020, 6:46 a.m. | Last Modified: 21 Dec 2020, 6:46 a.m.
Panel Version: 0.5748

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)

Publications

Created: 21 Dec 2020, 6:46 a.m.
Last Modified: 21 Dec 2020, 6:46 a.m.
Panel version: Imported from Mendeliome panel version 0.5751

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Temtamy preaxial brachydactyly syndrome 605282
OMIM
608183
Clinvar variants
Variants in CHSY1
Penetrance
None
Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CHSY1 was added gene: CHSY1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list 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