Likely inborn error of metabolism - targeted testing not possible
Gene: PRODHComment on list classification: Evidence for the association of PRODH variants with Hyperprolinemia, type I, OMIM; 239500 has been classified as Definitive by ClinGen Aminoacidopathy Gene Curation Expert Panel on 04/27/2021
(https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f28c677-a9b4-4bb3-9aed-14af97ad9896-2021-04-27T160000.000Z).Created: 19 May 2022, 3:06 p.m. | Last Modified: 19 May 2022, 3:06 p.m.
Panel Version: 2.254
Associated with phenotype in OMIM, not in G2P. At least 9 variants reportedCreated: 23 Feb 2017, 5:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperprolinemia, type I 239500
Publications
Phenotypes for gene: PRODH were changed from Hyperprolinemia, type I, OMIM; 239500; hyperprolinemia type 1, MONDO:0009400 to Hyperprolinemia, type I, OMIM:239500; hyperprolinemia type 1, MONDO:0009400
Phenotypes for gene: PRODH were changed from Hyperprolinemia, type I 239500; Hyperprolinaemia type I (Disorders of ornithine or proline metabolism) to Hyperprolinemia, type I, OMIM; 239500; hyperprolinemia type 1, MONDO:0009400
Gene: prodh has been classified as Green List (High Evidence).
Source NHS GMS was added to PRODH. Source London North GLH was added to PRODH.
Ellen McDonagh: Comment on mode of pathogenici
gene: PRODH was added gene: PRODH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRODH were set to 27604308; 24816252 Phenotypes for gene: PRODH were set to Hyperprolinemia, type I 239500; Hyperprolinaemia type I (Disorders of ornithine or proline metabolism)