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Inborn errors of metabolism

Gene: CHST6

Green List (high evidence)

CHST6 (carbohydrate sulfotransferase 6)
EnsemblGeneIds (GRCh38): ENSG00000183196
EnsemblGeneIds (GRCh37): ENSG00000183196
OMIM: 605294, Gene2Phenotype
CHST6 is in 6 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Macular corneal dystrophy 217800
OMIM
605294
Clinvar variants
Variants in CHST6
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 CHST6. Source London North GLH was added to CHST6.

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 CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Macular corneal dystrophy 217800 for gene: CHST6 Publications for gene CHST6 were changed from 16568029 to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CHST6 was added gene: CHST6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHST6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST6 were set to 16568029 Phenotypes for gene: CHST6 were set to CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Macular corneal dystrophy 217800