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Inborn errors of metabolism

Gene: CTH

Green List (high evidence)

CTH (cystathionine gamma-lyase)
EnsemblGeneIds (GRCh38): ENSG00000116761
EnsemblGeneIds (GRCh37): ENSG00000116761
OMIM: 607657, Gene2Phenotype
CTH is in 4 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P / DD. At least 4 variants reported in 4 cases of Cystathioninuria 219500 and 1 variant reported reported to be associated with elevated homocysteine
Created: 19 Jan 2017, 3:37 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cystathioninuria, 219500
OMIM
607657
Clinvar variants
Variants in CTH
Penetrance
None
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 CTH. Source London North GLH was added to CTH.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CTH were changed from to Cystathioninuria, 219500

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

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: CTH was added gene: CTH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CTH was set to BIALLELIC, autosomal or pseudoautosomal