PIGN

phosphatidylinositol glycan anchor biosynthesis class N
OMIM: 606097, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green PIGN in Congenital disorders of glycosylation Level 2: Metabolic Version 7.16 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 UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080
Green PIGN in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Multiple congenital anomalies-hypotonia-seizures syndrome 1
Green PIGN in Likely inborn error of metabolism Level 2: Metabolic Version 8.107 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 PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Multiple congenital anomalies-hypotonia-seizures syndrome 1
Green PIGN in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.186 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, OMIM:614080 Multiple congenital anomalies-hypotonia-seizures syndrome 1, MONDO:0013563
Green PIGN 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 Expert Review Green DD-Gene2Phenotype Phenotypes PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, OMIM:614080
Green PIGN in Clefting Level 2: Musculoskeletal Version 6.25 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 MCAHS1
Green PIGN in Early onset or syndromic epilepsy Level 2: Neurology Version 8.177 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 NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green Expert Review Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080
Green PIGN in Intellectual disability Level 2: Developmental disorders Version 9.375 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 Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME
Red PIGN in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.20 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH