Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: PNPLA2
As reviewed by Zornitza Stark (Australian Genomics), there is sufficient number of cases associating PNPLA2 to muscle and upper and lower limb weakness and dystrophy of shoulder girdle. Hence, this gene can be promoted to GREEN 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: 2 May 2023, 8:20 p.m. | Last Modified: 2 May 2023, 8:20 p.m.
Panel Version: 4.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutral lipid storage disease with myopathy, OMIM:610717
Publications
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
Phenotypes for gene: PNPLA2 were changed from Neutral lipid storage disease with myopathy 610717 to Neutral lipid storage disease with myopathy, OMIM:610717
Publications for gene: PNPLA2 were set to 32269696; 21544567
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 was added gene: PNPLA2 was added to Limb girdle muscular dystrophy. Sources: Expert list Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to 32269696; 21544567 Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy 610717 Review for gene: PNPLA2 was set to GREEN