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Fetal anomalies

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 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Unlikely to present antenatally.
Created: 19 Dec 2021, 11:11 p.m. | Last Modified: 19 Dec 2021, 11:11 p.m.
Panel Version: 0.1437

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

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

History Filter Activity

19 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp4f22 has been classified as Red List (Low Evidence).

19 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp4f22 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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 Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp 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