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  2. Palmoplantar Keratoderma and Erythrokeratoderma
  3. CYP4F22
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: CYP4F22

Amber List (moderate 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

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK (PMID: 18034255). OMIM states there is "Palmoplantar keratoderma (in some patients)" associated with this condition, but I can only find the one family.
Sources: Literature
Created: 19 Aug 2020, 7:46 a.m. | Last Modified: 19 Aug 2020, 7:46 a.m.
Panel Version: 0.88

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 5 MIM#604777

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Aug 2020, 7:46 a.m.
Last Modified: 19 Aug 2020, 7:46 a.m.
Panel version: 0.88

Details

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

History Filter Activity

19 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp4f22 has been classified as Amber List (Moderate Evidence).

19 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp4f22 has been classified as Amber List (Moderate Evidence).

19 Aug 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: CYP4F22 was added gene: CYP4F22 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP4F22 were set to 16436457; 18034255; 32069299 Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5 MIM#604777 Review for gene: CYP4F22 was set to AMBER gene: CYP4F22 was marked as current diagnostic