1. Panels
  2. Miscellaneous Metabolic Disorders
  3. PRODH
STRs in panel
Prev Next
Regions in panel
Prev Next

Miscellaneous Metabolic Disorders

Gene: PRODH

Green List (high evidence)
PRODH (proline dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000100033
EnsemblGeneIds (GRCh37): ENSG00000100033
OMIM: 606810, Gene2Phenotype
PRODH is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported.
Sources: Expert list
Created: 7 Feb 2021, 2:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperprolinemia, type I 239500; Proline oxidase deficiency

Publications

Created: 7 Feb 2021, 2:59 a.m.

Panel version: 0.278

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperprolinemia, type I 239500
  • Proline oxidase deficiency
OMIM
606810
Clinvar variants
Variants in PRODH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Feb 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRODH was added gene: PRODH was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRODH were set to 17412540; 12217952 Phenotypes for gene: PRODH were set to Hyperprolinemia, type I 239500; Proline oxidase deficiency Review for gene: PRODH was set to GREEN