Mitochondrial disease
Gene: PNPLA8EnsemblGeneIds (GRCh38): ENSG00000135241
EnsemblGeneIds (GRCh37): ENSG00000135241
OMIM: 612123, Gene2Phenotype
PNPLA8 is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 3x unrelated patients reported in literature and 1x additional in ClinVar from a clinical lab. PTCs have been reported in cHet or homozygous in patients (Shukla, A. et al. (2018)). Functional analysis of patient cells shows complete absence of protein (Saunders, C. J. et al. (2015)). No missense reported yet. KO mouse recapitulates human phenotype.Created: 7 Sep 2020, 8:13 a.m. | Last Modified: 7 Sep 2020, 8:13 a.m.
Panel Version: 0.481
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial myopathy with lactic acidosis (MIM#251950), AR
Publications
Kristin Rigbye (Victorian Clinical Genetics Services)
At least 3x unrelated patients reported in literature and 1x additional in ClinVar from a clinical lab.
PTCs have been reported in cHet or homozygous in patients (Shukla, A. et al. (2018)).
Functional analysis of patient cells shows complete absence of protein (Saunders, C. J. et al. (2015)).
No missense reported yet.
KO mouse recapitulates human phenotype.Created: 7 Sep 2020, 1:40 a.m. | Last Modified: 7 Sep 2020, 1:40 a.m.
Panel Version: 0.4242
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial myopathy with lactic acidosis (MIM#251950), AR
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Phenotypes
-
- Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related
- Mitochondrial myopathy with lactic acidosis (MIM#251950), AR
- OMIM
- 612123
- Clinvar variants
- Variants in PNPLA8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PNPLA8 were changed from Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related; Mitochondrial myopathy with lactic acidosis (MIM#251950), AR to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related; Mitochondrial myopathy with lactic acidosis (MIM#251950), AR
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PNPLA8 were changed from Mitochondrial myopathy with lactic acidosis (MIM#251950), AR to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related; Mitochondrial myopathy with lactic acidosis (MIM#251950), AR
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pnpla8 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PNPLA8 were changed from to Mitochondrial myopathy with lactic acidosis (MIM#251950), AR
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PNPLA8 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PNPLA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PNPLA8 was added gene: PNPLA8 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: PNPLA8 was set to Unknown