Miscellaneous Metabolic Disorders
Gene: CTH
Comment on list classification: Likely a benign biochemical anomaly not associated with diseaseCreated: 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 GMSCreated: 2 Feb 2021, 11:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cystathioninuria MIM#219500
Publications
Gene: cth has been classified as Amber List (Moderate Evidence).
Gene: cth has been classified as Red List (Low Evidence).
Gene: cth has been classified as Red List (Low Evidence).
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