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Possible mitochondrial disorder - nuclear genes

Gene: PNPLA8

Green List (high evidence)

PNPLA8 (patatin like phospholipase domain containing 8)
EnsemblGeneIds (GRCh38): ENSG00000135241
EnsemblGeneIds (GRCh37): ENSG00000135241
OMIM: 612123, Gene2Phenotype
PNPLA8 is in 4 panels

4 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, 2:05 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 3 or 4 unrelated cases and functional studies
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial myopathy with lactic acidosis, 251950

Publications

Ivone Leong (Genomics England Curator)

I don't know

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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial myopathy with lactic acidosis, 251950

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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
Phenotypes
  • ?Mitochondrial myopathy with lactic acidosis, 251950
OMIM
612123
Clinvar variants
Variants in PNPLA8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: pnpla8 has been classified as Green List (High Evidence).

10 May 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: pnpla8 has been classified as Green List (High Evidence).

4 Feb 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: PNPLA8 was added gene: PNPLA8 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA8 were set to 29681094; 25512002; 25473036 Phenotypes for gene: PNPLA8 were set to ?Mitochondrial myopathy with lactic acidosis, 251950