Likely inborn error of metabolism - targeted testing not possible
Gene: PNPLA2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 12:32 p.m. | Last Modified: 11 Oct 2023, 12:32 p.m.
Panel Version: 4.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next GMS update.Created: 3 May 2023, 6:12 a.m. | Last Modified: 3 May 2023, 6:12 a.m.
Panel Version: 4.27
There are at least ten unrelated cases of lipid storage disease with myopathy reported in literature with biallelic variants in PNPLA2 gene. Muscle biopsies showed marked neutral lipid accumulation in majority of these cases.
Functional studies in PMID:25287355 showed that expression of PNPLA2 variant plasmids (p.Asp166Gly/ p.Pro481Leu) in HeLa cells resulted in impaired enzyme activity, confirming the pathological effects of the variants.
This gene has also been associated with neutral lipid storage disorder in both OMIM (MIM #610717) and Gene2Phenotype (with 'strong' rating in the DD panel).Created: 3 May 2023, 6:05 a.m. | Last Modified: 3 May 2023, 6:05 a.m.
Panel Version: 4.25
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutral lipid storage disease with myopathy, OMIM:610717
Publications
PLPLA2 is a triglyceride lipase and this is a lipid storage disorder.
Sources: Expert ReviewCreated: 7 Feb 2021, 3:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutral lipid storage disease with myopathy MIM#610717
Publications
Tag Q2_23_promote_green was removed from gene: PNPLA2.
Source NHS GMS was added to PNPLA2. Source Expert Review Green was added to PNPLA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Tag Q2_23_promote_green tag was added to gene: PNPLA2.
Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Publications for gene: PNPLA2 were set to 18952067; 25287355; 25956450
gene: PNPLA2 was added gene: PNPLA2 was added to Inborn errors of metabolism. Sources: Expert Review Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to 18952067; 25287355; 25956450 Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy MIM#610717 Review for gene: PNPLA2 was set to GREEN