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Inborn errors of metabolism

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 3 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)

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
  • 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

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to PNPLA8. Mode of inheritance for gene PNPLA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PNPLA8 Publications for gene PNPLA8 were changed from to 25473036; 25512002; 29681094 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: PNPLA8 was added gene: PNPLA8 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PNPLA8 was set to Unknown