Genomics England
GMS Panels
Panels
Genes and Entities

GPHN

gephyrin
OMIM: 603930
PanelMode of inheritanceDetails
2 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Molybdenum cofactor deficiency C, OMIM:615501, Developmental and epileptic encephalopathy, MONDO:0100062
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Molybdenum cofactor deficiency C, OMIM:615501, Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism)