PIGO

phosphatidylinositol glycan anchor biosynthesis class O
OMIM: 614730, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green PIGO in Congenital disorders of glycosylation Level 2: Metabolic Version 7.15 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Hyperphosphatasia with mental retardation syndrome 2 614749 (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Green PIGO in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Hyperphosphatasia with mental retardation syndrome 2 614749 (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Green PIGO in Likely inborn error of metabolism Level 2: Metabolic Version 8.103 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Hyperphosphatasia with mental retardation syndrome 2 614749
Green PIGO in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
Green PIGO in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 614749
Green PIGO in Early onset or syndromic epilepsy Level 2: Neurology Version 8.167 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749
Green PIGO in Intellectual disability Level 2: Developmental disorders Version 9.345 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749 Hyperphosphatasia with Mental Retardation Syndrome HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 HPMRS2
Red PIGO in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.18 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH