Possible mitochondrial disorder - nuclear genes
Gene: PNPLA4EnsemblGeneIds (GRCh38): ENSG00000006757
EnsemblGeneIds (GRCh37): ENSG00000006757
OMIM: 300102, Gene2Phenotype
PNPLA4 is in 3 panels
2 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
No OMIM phenotype
Publications
Zornitza Stark (Australian Genomics)
Can only find a single case reported in the literature to date.Created: 31 Aug 2018, 4:56 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- No OMIM phenotype
- OMIM
- 300102
- Clinvar variants
- Variants in PNPLA4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PNPLA4 was added gene: PNPLA4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: PNPLA4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PNPLA4 were set to 26741492 Phenotypes for gene: PNPLA4 were set to No OMIM phenotype