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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 8 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.
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