Ichthyosis and erythrokeratoderma

Gene: PNPLA1

Green List (high evidence)

PNPLA1 (patatin like phospholipase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000180316
EnsemblGeneIds (GRCh37): ENSG00000180316
OMIM: 612121, Gene2Phenotype
PNPLA1 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 2/4 sources. One reviewer recommends Green. More than three variants in different populations
Created: 8 Jun 2016, 8:50 a.m.

John McGrath (King's College London)

Green List (high evidence)

PNPLA1 only joined the list in 2012, initially found in dogs, but subsequently in 3 or 4 families - clinically ARCI so this seems to be a real but rare gene for ARCI
Created: 18 Nov 2015, 2:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ARCI 10; Ichthyosis, congenital, autosomal recessive 10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10, 615024
OMIM
612121
Clinvar variants
Variants in PNPLA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PNPLA1 was added gene: PNPLA1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA1 were set to 24344921; 6691440; 26778108 Phenotypes for gene: PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10, 615024