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  2. Likely inborn error of metabolism
  3. PRODH
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Likely inborn error of metabolism

Gene: PRODH

Green List (high evidence)
PRODH (proline dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000100033
EnsemblGeneIds (GRCh37): ENSG00000100033
OMIM: 606810, Gene2Phenotype
PRODH is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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
Created: 19 May 2022, 3:06 p.m.
Last Modified: 19 May 2022, 3:06 p.m.
Panel version: 2.254

Olivia Niblock (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least 9 variants reported
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperprolinemia, type I 239500

Publications

Created: 23 Feb 2017, 5:15 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hyperprolinemia, type I, OMIM:239500
  • hyperprolinemia type 1, MONDO:0009400
OMIM
606810
Clinvar variants
Variants in PRODH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

19 May 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

19 May 2022, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PRODH. Source London North GLH was added to PRODH.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

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)