Genomics England

PIGO

phosphatidylinositol glycan anchor biosynthesis class O

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyperphosphatasia with mental retardation syndrome 2 614749, (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 614749
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 2.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
Green in Genetic epilepsy syndromes R-numbers: R59 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation), (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation), Hyperphosphatasia with mental retardation syndrome 2 614749
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749, Hyperphosphatasia with Mental Retardation Syndrome, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, HPMRS2