Ectodermal dysplasia

Gene: CYP4F22

Red List (low evidence)

CYP4F22 (cytochrome P450 family 4 subfamily F member 22)
EnsemblGeneIds (GRCh38): ENSG00000171954
EnsemblGeneIds (GRCh37): ENSG00000171954
OMIM: 611495, Gene2Phenotype
CYP4F22 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 CYP4F22.
Created: 13 Jul 2017, 1:38 p.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
  • Ichthyosis, congenital, autosomal recessive 5, 604777
Clinvar variants
Variants in CYP4F22
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: CYP4F22 was added gene: CYP4F22 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Some affected persons exhibit scarring alopecia; Lamellar ichthyosis; Ichthyosis, congenital, autosomal recessive 5, 604777