This Panel is marked as Retired
Epileptic encephalopathy
Gene: PRODH
PRODH (proline dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000100033
EnsemblGeneIds (GRCh37): ENSG00000100033
OMIM: 606810, Gene2Phenotype
PRODH is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000100033
EnsemblGeneIds (GRCh37): ENSG00000100033
OMIM: 606810, Gene2Phenotype
PRODH is in 5 panels
1 review
Sarah Leigh (Genomics England Curator)
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