Arthrogryposis
Gene: PNPLA2EnsemblGeneIds (GRCh38): ENSG00000177666
EnsemblGeneIds (GRCh37): ENSG00000177666
OMIM: 609059, Gene2Phenotype
PNPLA2 is in 8 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: No association with arthrogryposisCreated: 22 Dec 2016, 3:55 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Neutral Lipid Storage Disease with Myopathy
- Neutral lipid storage disease with myopathy, 610717
- OMIM
- 609059
- Clinvar variants
- Variants in PNPLA2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)PNPLA2 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services PNPLA2 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)PNPLA2 was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)PNPLA2 was created by ellenmcdonagh