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Ichthyosis

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 19 Jan 2021, 10:50 a.m. | Last Modified: 19 Jan 2021, 10:50 a.m.
Panel Version: 0.108

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 19 Jan 2021, 10:50 a.m.
Last Modified: 19 Jan 2021, 10:50 a.m.
Panel version: 0.111

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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 Jan 2021, 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).

19 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CYP4F22 were set to

19 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CYP4F22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP4F22 was added gene: CYP4F22 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYP4F22 was set to Unknown