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  3. CYP26B1
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Skeletal Dysplasia_Fetal

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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Fetal death in utero reported in this condition which is associated with prominent craniofacial malformations. Prenatal shortening of the upper and lower limbs with pronounced angulation also described.
Sources: Literature, Expert list
Created: 19 Oct 2022, 8:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 19 Oct 2022, 8:04 a.m.

Panel version: 0.143

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
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

20 Oct 2022, 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).

20 Oct 2022, 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 Oct 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: CYP26B1 was added gene: CYP26B1 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP26B1 were set to PMID: 22019272 Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies - MIM# 614416 Review for gene: CYP26B1 was set to GREEN