Mitochondrial disorders
Gene: PNPLA8EnsemblGeneIds (GRCh38): ENSG00000135241
EnsemblGeneIds (GRCh37): ENSG00000135241
OMIM: 612123, Gene2Phenotype
PNPLA8 is in 8 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 3 or 4 unrelated cases and functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).Created: 23 May 2019, 3:04 p.m.
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from red to green based on expert review.Created: 2 May 2019, 3:28 p.m.
Zornitza Stark (Australian Genomics)
Three individuals from unrelated families reported with bi-allelic variants in this gene and mitochondrial disease.Created: 31 Aug 2018, 6:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial myopathy with lactic acidosis, MIM#251950
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- ?Mitochondrial myopathy with lactic acidosis, 251950
- OMIM
- 612123
- Clinvar variants
- Variants in PNPLA8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PNPLA8 were set to 29681094; 25512002
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pnpla8 has been classified as Green List (High Evidence).
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to PNPLA8. Rating Changed from Green List (high evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pnpla8 has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PNPLA8 were changed from to ?Mitochondrial myopathy with lactic acidosis, 251950
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PNPLA8 were set to
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: PNPLA8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)PNPLA8 was added to Mitochondrial disorders panel. Sources: Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)PNPLA8 was created by Sarah Leigh