OSGEP

O-sialoglycoprotein endopeptidase
OMIM: 610107
PanelMode of inheritanceDetails
6 panels
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3, OMIM:617729, Galloway-Mowat syndrome 3, MONDO:0033007
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3, 617729, Intellectual disability
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3 617729
R-numbers: R195
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3 617729
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3, OMIM:617729
R-numbers: R257
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3 617729