Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: PNPLA4

Red List (low evidence)

PNPLA4 (patatin like phospholipase domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000006757
EnsemblGeneIds (GRCh37): ENSG00000006757
OMIM: 300102, Gene2Phenotype
PNPLA4 is in 3 panels

1 review

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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



Mode of Inheritance
  • Expert Review Red
Clinvar variants
Variants in PNPLA4
Panels with this gene

History Filter Activity

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: PNPLA4 was added gene: PNPLA4 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PNPLA4 was set to Unknown