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  2. Deafness_IsolatedAndComplex
  3. CHSY1
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Deafness_IsolatedAndComplex

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.
Sources: Expert Review
Created: 21 Dec 2020, 6:53 a.m.

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, 6:53 a.m.

Panel version: 1.39

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533
  • CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
OMIM
608183
Clinvar variants
Variants in CHSY1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chsy1 has been classified as Green List (High Evidence).

21 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chsy1 has been classified as Green List (High Evidence).

21 Dec 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHSY1 was added gene: CHSY1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHSY1 were set to 21129728; 21129727; 24269551 Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Review for gene: CHSY1 was set to GREEN