OSGEP

O-sialoglycoprotein endopeptidase
OMIM: 610107, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green OSGEP in Lissencephaly and Band Heterotopia Level 2: Neurology and neurodevelopmental disorders Version 1.19 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome 3, MIM#617729
Green OSGEP in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 3, MIM# 617729
Green OSGEP in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 3, MIM# 617729
Green OSGEP in Proteinuria Level 2: Renal and urinary tract disorders Version 0.225 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 3, MIM# 617729
Green OSGEP in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 3, MIM#617729
Green OSGEP in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Galloway-Mowat syndrome 3, MIM# 617729
Green OSGEP in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive
Green OSGEP in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Galloway-Mowat syndrome 3, OMIM:617729 Galloway-Mowat syndrome 3, MONDO:0033007
Green OSGEP in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive
Green OSGEP in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive