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Mendeliome

Gene: CYP26C1

Green List (high evidence)

CYP26C1 (cytochrome P450 family 26 subfamily C member 1)
EnsemblGeneIds (GRCh38): ENSG00000187553
EnsemblGeneIds (GRCh37): ENSG00000187553
OMIM: 608428, Gene2Phenotype
CYP26C1 is in 1 panel

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

3 homozygous and 2 compound heterozygous individuals with focal facial dermal dysplasia 4 (FFDD 4) and segregated with disease in 1 family. p.(Gln284fs*128) is the recurrent variant
Created: 5 May 2022, 10:20 a.m. | Last Modified: 5 May 2022, 10:20 a.m.
Panel Version: 0.13842

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Focal facial dermal dysplasia 4 MIM#614974

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Focal facial dermal dysplasia 4 MIM#614974
OMIM
608428
Clinvar variants
Variants in CYP26C1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: cyp26c1 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: CYP26C1 were changed from to Focal facial dermal dysplasia 4 MIM#614974

5 May 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: CYP26C1 were set to

5 May 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CYP26C1 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: CYP26C1 was added gene: CYP26C1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYP26C1 was set to Unknown