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  2. Aminoacidopathy
  3. PRODH
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Aminoacidopathy

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene disease association with reported individuals having an inborn error of proline metabolism.
Reported affected individuals have reported 2-10 times the normal plasma proline level.

Classified as Moderate by ClinGen Aminoacidopathy GCEP on 27/04/2021
https://search.clinicalgenome.org/CCID:005892
Sources: ClinGen
Created: 9 Jul 2024, 2:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hyperprolinemia type 1 MONDO:0009400

Publications

Created: 9 Jul 2024, 2:23 a.m.

Panel version: 1.66

Details

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

History Filter Activity

14 Jul 2024, 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).

14 Jul 2024, 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).

9 Jul 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: PRODH was added gene: PRODH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRODH were set to 12217952 Phenotypes for gene: PRODH were set to hyperprolinemia type 1 MONDO:0009400 Review for gene: PRODH was set to GREEN