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  2. Craniosynostosis
  3. CHST3
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Craniosynostosis

Gene: CHST3

Red List (low evidence)
CHST3 (carbohydrate sulfotransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000122863
EnsemblGeneIds (GRCh37): ENSG00000122863
OMIM: 603799, Gene2Phenotype
CHST3 is in 12 panels

1 review

Tiong Tan (Victorian Clinical Genetics Services)

Red List (low evidence)

Single case report of craniosynostosis in single individual with SEDCJD
Sources: Literature
Created: 3 Jun 2020, 11:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS

Publications

Created: 3 Jun 2020, 11:13 a.m.

Panel version: 0.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
OMIM
603799
Clinvar variants
Variants in CHST3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: chst3 has been classified as Red List (Low Evidence).

3 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: chst3 has been classified as Red List (Low Evidence).

3 Jun 2020, Gel status: 1

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: CHST3 was added gene: CHST3 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST3 were set to 24300290 Phenotypes for gene: CHST3 were set to 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Penetrance for gene: CHST3 were set to Complete Review for gene: CHST3 was set to AMBER