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Inborn errors of metabolism

Gene: CHST3

Green List (high evidence)

CHST3 (carbohydrate sulfotransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000122863
EnsemblGeneIds (GRCh37): ENSG00000122863
OMIM: 603799, Gene2Phenotype
CHST3 is in 11 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Spondyloepiphyseal dysplasia with congenital joint dislocations 143095
  • CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
OMIM
603799
Clinvar variants
Variants in CHST3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CHST3. Source London North GLH was added to CHST3.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations 143095; CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHST3 Publications for gene CHST3 were changed from 27604308 to 20830804

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CHST3 was added gene: CHST3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST3 were set to 27604308 Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations 143095; CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)