DDG2P
Gene: PNPLA8

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease PNPLA8-related progressive microcephaly with seizures and neurodegeneration is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 29681094;34177434;37057294;25512002;37671596;39082157).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.

Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PNPLA8-related progressive microcephaly with seizures and neurodegeneration

Publications

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 5.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

PNPLA8-related progressive microcephaly with seizures and neurodegeneration

OMIM

612123

Clinvar variants

Variants in PNPLA8

Penetrance

None

Publications

Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PNPLA8 was added gene: PNPLA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA8 were set to 25512002; 34177434; 37671596; 37057294; 39082157; 29681094 Phenotypes for gene: PNPLA8 were set to PNPLA8-related progressive microcephaly with seizures and neurodegeneration

DDG2P Gene: PNPLA8