Ectodermal dysplasia

Gene: PNPLA1

Red List (low evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red: Although some people affected with autosomal recessive congenital ichthyosis (ARCI) may exhibit cicatricial (scarring) alopecia, there is no direct evidence for the role of PNPLA1.
Created: 13 Jul 2017, 1:59 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10, 615024
  • Some affected persons exhibit scarring alopecia
OMIM
612121
Clinvar variants
Variants in PNPLA1
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PNPLA1 was added gene: PNPLA1 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10, 615024; Some affected persons exhibit scarring alopecia