Ichthyosis and erythrokeratoderma
Gene: PNPLA1EnsemblGeneIds (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 populationsCreated: 8 Jun 2016, 8:50 a.m.
John McGrath (King's College London)
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 ARCICreated: 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, OMIM:615024
- OMIM
- 612121
- Clinvar variants
- Variants in PNPLA1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PNPLA1 were changed from Ichthyosis, congenital, autosomal recessive 10, 615024 to Ichthyosis, congenital, autosomal recessive 10, OMIM:615024
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