PIGM

phosphatidylinositol glycan anchor biosynthesis class M
OMIM: 610273, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber PIGM in Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 5.1 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Literature Phenotypes Glycosylphosphatidylinositol deficiency, OMIM:610293 Tags promoter non-coding-known-pathogenic Q4_23_promote_green
Green PIGM in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycosylphosphatidylinositol deficiency, OMIM:610293 Tags promoter curated-variant-list non-coding-known-pathogenic
Amber PIGM in Likely inborn error of metabolism - targeted testing not possible Version 5.1 Latest signed off version: v5.0 (1 May 2024) 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 Expert Review Amber London North GLH NHS GMS Phenotypes Glycosylphosphatidylinositol deficiency, OMIM:610293 Tags promoter non-coding-known-pathogenic Q4_23_promote_green Q4_23_NHS_review
Red PIGM in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes Glycosylphosphatidylinositol deficiency
Green PIGM in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.6 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycosylphosphatidylinositol deficiency, OMIM:610293 Tags promoter non-coding-known-pathogenic
Red PIGM in Childhood onset dystonia, chorea or related movement disorder Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH