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Skeletal dysplasia

Gene: CYP26B1

Green List (high evidence)

CYP26B1 (cytochrome P450 family 26 subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000003137
EnsemblGeneIds (GRCh37): ENSG00000003137
OMIM: 605207, Gene2Phenotype
CYP26B1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three families reported; animal models.
Created: 19 Dec 2021, 7:52 a.m. | Last Modified: 19 Dec 2021, 7:52 a.m.
Panel Version: 0.142

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416
OMIM
605207
Clinvar variants
Variants in CYP26B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp26b1 has been classified as Green List (High Evidence).

19 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYP26B1 were changed from Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416

19 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CYP26B1 were set to

19 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CYP26B1 was changed from to BIALLELIC, autosomal or pseudoautosomal

19 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp26b1 has been classified as Green List (High Evidence).

17 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP26B1 was added gene: CYP26B1 was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CYP26B1 was set to Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416