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Epileptic encephalopathy

Gene: PRODH

Green List (high evidence)

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.
Created: 20 Mar 2017, 11:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperprolinemia, type I 239500

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hyperprolinemia, type I 239500
OMIM
606810
Clinvar variants
Variants in PRODH
Penetrance
Complete
Panels with this gene

History Filter Activity

20 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Mar 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PRODH was created by sleigh

20 Mar 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

PRODH was added to Epileptic encephalopathypanel. Sources: Expert Review