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Inborn errors of metabolism

Gene: PRODH

Green List (high evidence)

PRODH (proline dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000100033
EnsemblGeneIds (GRCh37): ENSG00000100033
OMIM: 606810, Gene2Phenotype
PRODH is in 6 panels

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperprolinemia, type I 239500
  • Hyperprolinaemia type I (Disorders of ornithine or proline metabolism)
OMIM
606810
Clinvar variants
Variants in PRODH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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)