Genomics England

phosphofurin acidic cluster sorting protein 1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes INTELLECTUAL DISABILITY
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 6.9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Schuurs-Hoeijmakers syndrome, 615009
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Schuurs-Hoeijmakers syndrome, OMIM:615009
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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Mental retardation, autosomal dominant 17, 615009, INTELLECTUAL DISABILITY
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Schuurs-Hoeijmakers syndrome, OMIM:615009