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  3. CTH
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Miscellaneous Metabolic Disorders

Gene: CTH

Amber List (moderate evidence)
CTH (cystathionine gamma-lyase)
EnsemblGeneIds (GRCh38): ENSG00000116761
EnsemblGeneIds (GRCh37): ENSG00000116761
OMIM: 607657, Gene2Phenotype
CTH is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Likely a benign biochemical anomaly not associated with disease
Created: 2 Feb 2021, 11:40 p.m. | Last Modified: 2 Feb 2021, 11:40 p.m.
Panel Version: 0.112
>3 cases reported with cystathioninuria with no striking pathologic features. Due to inconsistency and wide variety of disease associations, it is considered to be a benign biochemical anomaly. Null mouse model demonstrates homocysteinemia/cystathioninemia but develop with no apparent abnormality.
Sources: NHS GMS
Created: 2 Feb 2021, 11:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cystathioninuria MIM#219500

Publications

Created: 2 Feb 2021, 11:39 p.m.

Panel version: 0.122

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cystathioninuria MIM#219500
OMIM
607657
Clinvar variants
Variants in CTH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cth has been classified as Amber List (Moderate Evidence).

2 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CTH was added gene: CTH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: CTH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTH were set to 12574942; 20584029; 24761004; 15151507 Phenotypes for gene: CTH were set to Cystathioninuria MIM#219500 Review for gene: CTH was set to RED