PIGA

phosphatidylinositol glycan anchor biosynthesis class A
OMIM: 311770, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green PIGA in Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 4.18 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Literature Emory Genetics Laboratory Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868 PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags Skewed X-inactivation
Red PIGA in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes Paroxysmal nocturnal haemoglobinuria, somatic, 300818 Tags somatic treatable Skewed X-inactivation
Red PIGA in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	Not set	Sources Expert Review Red Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen Phenotypes Paroxysmal nocturnal hemoglobinuria, somatic, 300818 Tags somatic treatable Skewed X-inactivation
Green PIGA in Thrombophilia with a likely monogenic cause Version 2.5 Latest signed off version: v2.2 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 300818 Paroxysmal nocturnal hemoglobinuria, somatic Tags Skewed X-inactivation
Green PIGA in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868 Tags Skewed X-inactivation
Green PIGA in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868 PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags Skewed X-inactivation
Green PIGA in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 Tags Skewed X-inactivation
Green PIGA in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 300868 Tags Skewed X-inactivation
Red PIGA in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.111 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 MCAHS2 Tags Skewed X-inactivation
Green PIGA in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 Tags Skewed X-inactivation
Green PIGA in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 MCAHS2 Tags Skewed X-inactivation
Red PIGA in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH Tags Skewed X-inactivation
Green PIGA in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 Tags Skewed X-inactivation