Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Mendeliome v1.1882 PRODH2 Zornitza Stark Marked gene: PRODH2 as ready
Mendeliome v1.1882 PRODH2 Zornitza Stark Gene: prodh2 has been classified as Red List (Low Evidence).
Mendeliome v1.1882 PRODH2 Zornitza Stark Classified gene: PRODH2 as Red List (low evidence)
Mendeliome v1.1882 PRODH2 Zornitza Stark Gene: prodh2 has been classified as Red List (Low Evidence).
Mendeliome v1.1876 PRODH2 Sangavi Sivagnanasundram gene: PRODH2 was added
gene: PRODH2 was added to Mendeliome. Sources: ClinGen
Mode of inheritance for gene: PRODH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRODH2 were set to 27139199
Phenotypes for gene: PRODH2 were set to hydroxyprolinemia MONDO:0009374
Review for gene: PRODH2 was set to RED
Added comment: PMID: 27139199
Variants reported in 6 individuals however only 2 cases presented with intermittant biochemical phenotype however the cause remains unclear. The rest of the individuals were asymptomatic suggesting that hydroxyprolinemia is a benign condition.

Classified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022
https://search.clinicalgenome.org/CCID:005893
Sources: ClinGen
Mendeliome v0.12995 PRODH Zornitza Stark Marked gene: PRODH as ready
Mendeliome v0.12995 PRODH Zornitza Stark Gene: prodh has been classified as Green List (High Evidence).
Mendeliome v0.12995 PRODH Zornitza Stark Phenotypes for gene: PRODH were changed from to Hyperprolinaemia, type I 239500; Proline oxidase deficiency
Mendeliome v0.12994 PRODH Zornitza Stark Publications for gene: PRODH were set to
Mendeliome v0.12993 PRODH Zornitza Stark Mode of inheritance for gene: PRODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 PRODH Zornitza Stark gene: PRODH was added
gene: PRODH was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRODH was set to Unknown