PNPLA2

patatin like phospholipase domain containing 2
OMIM: 609059, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green PNPLA2 in Rhabdomyolysis and metabolic muscle disorders Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.4 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Neutral lipid storage disease with myopathy, OMIM:610717
Red PNPLA2 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.3 Latest signed off version: v6.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes Neutral Lipid Storage Disease with Myopathy Neutral lipid storage disease with myopathy, 610717
Red PNPLA2 in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.38 Latest signed off version: v4.37 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Neutral lipid storage disease with myopathy, OMIM:610717
Amber PNPLA2 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.33 Latest signed off version: v4.32 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neutral lipid storage disease with myopathy, OMIM:610717 Tags Q2_23_promote_green
Green PNPLA2 in Likely inborn error of metabolism - targeted testing not possible Version 5.3 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 Green NHS GMS Expert Review Phenotypes Neutral lipid storage disease with myopathy MIM#610717
No list PNPLA2 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Removed
Green PNPLA2 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 Expert Review Green DD-Gene2Phenotype Phenotypes NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY 610717
Amber PNPLA2 in Paediatric or syndromic cardiomyopathy Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH MetBioNet MetBioNet South West GLH Phenotypes DCM Neutral lipid storage disease with myopathy NLSDM Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes
Red PNPLA2 in Congenital muscular dystrophy and congenital myopathy Version 0.230	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Neutral lipid storage disease with myopathy, OMIM:610717