Rhabdomyolysis and metabolic muscle disorders
Gene: PNPLA2EnsemblGeneIds (GRCh38): ENSG00000177666
EnsemblGeneIds (GRCh37): ENSG00000177666
OMIM: 609059, Gene2Phenotype
PNPLA2 is in 8 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 11:15 a.m. | Last Modified: 2 May 2024, 11:15 a.m.
Panel Version: 4.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There are sufficient number of cases associating biallelic PNPLA2 variants to muscle and upper and lower limb weakness and dystrophy of shoulder girdle. Hence, this gene can be promoted to GREEN in this panel at the next GMS update.
This gene has also been associated with phenotypes in both OMIM (MIM #610717) and Gene2Phenotype (with 'strong' rating in DD panel).Created: 8 Dec 2023, 7:01 p.m. | Last Modified: 8 Dec 2023, 7:01 p.m.
Panel Version: 3.42
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutral lipid storage disease with myopathy, OMIM:610717
Publications
Zornitza Stark (Australian Genomics)
PMID: 32269696 - 1 patient with both upper and lower limb weakness. She had elevated CK levels, with onset >25 years old.
PMID: 21544567 - 6 patients with distal muscle weakness, shoulder girdle weakness and elevated CK levels. Severe dystrophic features of the shoulder girdle noted in 3/3 patients analysed by whole body MRI. Proximal muscle weakness was generalised first, with lower limbs affected in the 3rd/4th decade of life. Earliest age of onset 29 years old, 5/6 patients had homozygous PTCs.
Phenotypic overlap with LGMD.
Sources: Expert listCreated: 29 Jun 2020, 10:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutral lipid storage disease with myopathy 610717
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Neutral lipid storage disease with myopathy, OMIM:610717
- OMIM
- 609059
- Clinvar variants
- Variants in PNPLA2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: PNPLA2.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to PNPLA2. Source NHS GMS was added to PNPLA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: PNPLA2 were changed from Neutral lipid storage disease with myopathy 610717 to Neutral lipid storage disease with myopathy, OMIM:610717
Removed Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_23_promote_green was removed from gene: PNPLA2. Tag Q4_23_promote_green tag was added to gene: PNPLA2.
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: PNPLA2 was added gene: PNPLA2 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Amber Q2_23_promote_green tags were added to gene: PNPLA2. Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to 18952067; 21544567; 25956450; 32269696 Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy 610717