Genomics England

PIGV

phosphatidylinositol glycan anchor biosynthesis class V

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HPMRS1
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300, (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION 239300
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION
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 Hyperphosphatasia with mental retardation syndrome 1, 239300, Hyperphosphatasia with Mental Retardation Syndrome, HYPERPHOSPHATASIA WITH MENTAL RETARDATION (HPMR)
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation), Hyperphosphatasia with mental retardation syndrome 1 239300, (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300