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  3. CTH
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Aminoacidopathy

Gene: CTH

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified Definitive by ClinGen Aminoacidopathy GCEP on 14/06/2019 - https://search.clinicalgenome.org/CCID:004594

Inborn error of cystathionine gamma-lyase metabolism and has been reported in >5 affected individuals.
Sources: ClinGen
Created: 23 May 2024, 6:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cystathioninuria MONDO:0009058

Publications

Created: 23 May 2024, 6:02 a.m.

Panel version: 1.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • cystathioninuria MONDO:0009058
OMIM
607657
Clinvar variants
Variants in CTH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 May 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: CTH was added gene: CTH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: CTH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTH were set to 20584029; 19428278; 12574942 Phenotypes for gene: CTH were set to cystathioninuria MONDO:0009058 Review for gene: CTH was set to GREEN