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  3. CHST3
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Skeletal Dysplasia_Fetal

Gene: CHST3

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe short stature of prenatal onset with disproportionately shortened limbs.
Sources: Literature, Expert list
Created: 14 Oct 2022, 1:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepiphyseal dysplasia with congenital joint dislocations-MIM#143095

Publications

Created: 14 Oct 2022, 1:21 a.m.

Panel version: 0.140

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Spondyloepiphyseal dysplasia with congenital joint dislocations-MIM#143095
OMIM
603799
Clinvar variants
Variants in CHST3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chst3 has been classified as Green List (High Evidence).

14 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chst3 has been classified as Green List (High Evidence).

14 Oct 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: CHST3 was added gene: CHST3 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST3 were set to 15368507; 17618475 Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations-MIM#143095 Review for gene: CHST3 was set to GREEN