PLA2G16

phospholipase A2 group XVI
OMIM: 613867, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green PLA2G16 in Severe insulin resistance and lipodystrophy syndromes Level 2: Endocrinology Version 5.1 Latest signed off version: v5.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Associated with Lipodystrophy, familial partial, type 9, OMIM:620683 lipodystrophy, familial partial, type 9, MONDO:0958034 Tags new-gene-name
Red PLA2G16 in DDG2P Version 7.1 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PLAAT3-related lipodystrophy syndrome with neurological features, OMIM:620683
Amber PLA2G16 in Intellectual disability Level 2: Developmental disorders Version 10.17 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Associated with Lipodystrophy, familial partial, type 9, OMIM:620683 lipodystrophy, familial partial, type 9, MONDO:0958034 Tags new-gene-name
Green PLA2G16 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 8.3 Latest signed off version: v8.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Associated with Lipodystrophy, familial partial, type 9, OMIM:620683 lipodystrophy, familial partial, type 9, MONDO:0958034 Tags new-gene-name