Familial cicatricial alopecia
Gene: PNPLA1
PNPLA1 (patatin like phospholipase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000180316
EnsemblGeneIds (GRCh37): ENSG00000180316
OMIM: 612121, Gene2Phenotype
PNPLA1 is in 7 panels
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
- Other
- Phenotypes
-
- Ichthyosis, congenital, autosomal recessive 10, 615024
- Some affected persons exhibit scarring alopecia
- OMIM
- 612121
- Clinvar variants
- Variants in PNPLA1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
20 Jul 2017, Gel status: 1
panel promoted to version 1
Rebecca Foulger (Genomics England curator)20 July 2017: Reviews from Prof. John McGrath were assessed, and panel was revised largely to reflect his expert review. Demoted FOXN1 and GJA1 to grey because the congenital alopecia phenotype is too broad for this cicatricial (scarring) alopecia panel. For most of the red genes, there is only very minor (often indirect) evidence to support a link to cicatricial alopecia, but they remain on the panel, for now, for completeness.
13 Jul 2017, Gel status: 1
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
22 Nov 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)PNPLA1 was created by rfoulger
22 Nov 2016, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)PNPLA1 was added to Familial cicatricial alopeciapanel. Sources: Other