Genomics England

O-sialoglycoprotein endopeptidase

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephrotic syndrome with primary microcephaly
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	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 7.51	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 6.3	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 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Galloway-Mowat syndrome 3, OMIM:617729