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Intellectual disability

Gene: PNPLA8

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on publications: PMID: 39082157 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 26 Feb 2025, 5:10 p.m. | Last Modified: 26 Feb 2025, 5:10 p.m.
Panel Version: 8.108
Biallelic PNPLA8 variants have previously been associated with Mitochondrial myopathy with lactic acidosis, (OMIM:251950). PMID: 39082157 reports a study were microcephaly, global delay and seizures are associated with biallelic PNPLA8 variants. Amongst the unrelated individuals studied, 8/11 had severe microcephaly, 9/11 had epileptic seizures and 8/11 had severe global delay and intellectual disability where it could be measured, 3/11 cases died in childhood and affected siblings (but not genotyped) had died in two other families. Using cerebral organoids generated from human induced pluripotent stem cells, the authors were able to assert that the loss of PNPLA8 led to
developmental defects by reducing the number of basal radial glial cells and upper-layer neurons (PMID: 39082157).
Sources: Literature
Created: 26 Feb 2025, 5:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial myopathy with lactic acidosis, OMIM:251950; mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016825

Publications

Created: 26 Feb 2025, 5:03 p.m.

Panel version: 8.106

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Mitochondrial myopathy with lactic acidosis, OMIM:251950
  • mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016825
Tags
Q1_25_ promote_green
OMIM
612123
Clinvar variants
Variants in PNPLA8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Feb 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PNPLA8 were set to 39082157

26 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pnpla8 has been classified as Amber List (Moderate Evidence).

26 Feb 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: PNPLA8 was added gene: PNPLA8 was added to Intellectual disability. Sources: Literature Q1_25_ promote_green tags were added to gene: PNPLA8. Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA8 were set to 39082157 Phenotypes for gene: PNPLA8 were set to ?Mitochondrial myopathy with lactic acidosis, OMIM:251950; mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016825 Review for gene: PNPLA8 was set to GREEN