1. Panels
  2. Palmoplantar Keratoderma and Erythrokeratoderma
  3. PNPLA1
STRs in panel
Prev Next
Regions in panel
Prev Next

Palmoplantar Keratoderma 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 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30578701;
- 19 consanguineous families with 13 unique variants
- all had erythroderma, 12 had PPK
Sources: Literature
Created: 19 Aug 2020, 1:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 10 (MIM#615024)

Publications

Created: 19 Aug 2020, 1:56 a.m.

Panel version: 0.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10 (MIM#615024)
OMIM
612121
Clinvar variants
Variants in PNPLA1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

19 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnpla1 has been classified as Green List (High Evidence).

19 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnpla1 has been classified as Green List (High Evidence).

19 Aug 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: PNPLA1 was added gene: PNPLA1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA1 were set to 30578701 Phenotypes for gene: PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10 (MIM#615024) Penetrance for gene: PNPLA1 were set to unknown Review for gene: PNPLA1 was set to GREEN