Genomics England
GMS Panels
Panels
Genes and Entities

OSGEP

O-sialoglycoprotein endopeptidase
OMIM: 610107
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome with primary microcephaly
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3, OMIM:617729, Galloway-Mowat syndrome 3, MONDO:0033007
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3, 617729, Intellectual disability
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3 617729
Green
in Proteinuric renal disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R195
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3 617729
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3, OMIM:617729