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  3. PRODH2
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Aminoacidopathy

Gene: PRODH2

Red List (low evidence)
PRODH2 (proline dehydrogenase 2)
EnsemblGeneIds (GRCh38): ENSG00000250799
EnsemblGeneIds (GRCh37): ENSG00000250799
OMIM: 616377, Gene2Phenotype
PRODH2 is in 2 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

PMID: 27139199
Variants reported in 6 individuals however only 2 cases presented with intermittant biochemical phenotype however the cause remains unclear. The rest of the individuals were asymptomatic suggesting that hydroxyprolinemia is a benign condition.

Classified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022
https://search.clinicalgenome.org/CCID:005893
Sources: ClinGen
Created: 9 Jul 2024, 2:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hydroxyprolinemia MONDO:0009374

Publications

Created: 9 Jul 2024, 2:42 a.m.

Panel version: 1.66

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • hydroxyprolinemia MONDO:0009374
OMIM
616377
Clinvar variants
Variants in PRODH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prodh2 has been classified as Red List (Low Evidence).

14 Jul 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prodh2 has been classified as Red List (Low Evidence).

9 Jul 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: PRODH2 was added gene: PRODH2 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PRODH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRODH2 were set to 27139199 Phenotypes for gene: PRODH2 were set to hydroxyprolinemia MONDO:0009374 Review for gene: PRODH2 was set to RED