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 4 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Two unrelated families reported initially - 4 cases total. Three sibs had calvarial mineralization defects. Fourth case had coronal and lambdoid CSS (Laue et al 2011). Ko mice have radiohumeral synostosis and calvarial hypoplasia. Partial loss in zebrafish causes coronal synostosis. Morton et al 2016 report further case with MSS and a phenotype similar to ABS/Pfeiffer. No nonsense/fs reported so far ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. Now 3 cases
Created: 21 May 2019, 12:16 p.m.
Laue et al 2011 PMID: 22019272 - 2 families.
Morton et al 2016 PMID: 27410456 - 1 family
Created: 2 May 2019, 3:56 p.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CYP26B1; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Red List (low evidence)

Severe disorder, single report of 2 families with craniosynostosis in one of them
Created: 14 Sep 2015, 12:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Craniosynostosis and multiple skeletal anomalies

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
OMIM
605207
Clinvar variants
Variants in CYP26B1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 May 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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

21 May 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

2 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CYP26B1 were set to

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CYP26B1.

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CYP26B1 was added to Craniosynostosis syndromespanel. Sources: Expert list

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CYP26B1 was added to Craniosynostosis syndromespanel. Sources: Radboud University Medical Center, Nijmegen