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Gene: CYP4F22

Green List (high evidence)
CYP4F22 (cytochrome P450 family 4 subfamily F member 22)
EnsemblGeneIds (GRCh38): ENSG00000171954
EnsemblGeneIds (GRCh37): ENSG00000171954
OMIM: 611495, Gene2Phenotype
CYP4F22 is in 8 panels

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease correlation. Previously referred to as Icthyosis congenita III, Lamellar 3.
Green on Mendeliome. OMIM states nonlamellar and nonerythrodermic,congenital, autosomal recessive. Predominant skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Collodian membrane can be present at birth (in some patients). Seen in multiple families worldwide.
Created: 8 Jan 2025, 3:32 a.m. | Last Modified: 8 Jan 2025, 3:32 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 5, MIM# 604777

Created: 8 Jan 2025, 3:32 a.m.
Last Modified: 8 Jan 2025, 3:32 a.m.
Panel version: 1.992

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 5, MIM#604777
OMIM
611495
Clinvar variants
Variants in CYP4F22
Penetrance
None
Panels with this gene

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp4f22 has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive 5, 604777 (3) to Ichthyosis, congenital, autosomal recessive 5, MIM#604777

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP4F22 was added gene: CYP4F22 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777 (3)