Genomics England
GMS Panels
Panels
Genes and Entities

GPHN

gephyrin
OMIM: 603930
PanelMode of inheritanceDetails
2 panels
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Molybdenum cofactor deficiency C, 615501
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Molybdenum cofactor deficiency C 615501, Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism), epileptic encephalopathy