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  3. CYP26B1
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Craniosynostosis

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

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Three unrelated families in two publications, the first of which also demonstrated robust functional work in murine embryos, zebrafish and in vitro assays suggesting aberrant osteoblast-osteocyte transition.
Sources: Literature
Created: 3 Jun 2020, 11:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES

Publications

Created: 3 Jun 2020, 11:31 a.m.

Panel version: 0.24

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416
OMIM
605207
Clinvar variants
Variants in CYP26B1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYP26B1 were changed from 614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

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

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

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

3 Jun 2020, Gel status: 1

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: CYP26B1 was added gene: CYP26B1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP26B1 were set to 27410456; 22019272 Phenotypes for gene: CYP26B1 were set to 614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES Penetrance for gene: CYP26B1 were set to Complete Review for gene: CYP26B1 was set to GREEN