Genomics England
GMS Panels
Panels
Genes and Entities
PRODH
proline dehydrogenase 1
OMIM:
606810
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
Green
in
Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
- Childhood onset leukodystrophy
- Hypotonic infant
- Paediatric disorders
- Unexplained death in infancy and sudden unexplained death in childhood
R-numbers:
R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperprolinemia, type I, OMIM, 239500, hyperprolinemia type 1, MONDO:0009400