PLA2G16

phospholipase A2 group XVI
OMIM: 613867, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green PLA2G16 in Lipodystrophy - childhood onset Level 2: Endocrinology Version 4.67 Latest signed off version: v4.0 (22 Mar 2023)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 9.285 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 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 7.36 Latest signed off version: v7.0 (30 Apr 2025)	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