Limb disordersGene: CYP26B1
Gene suggested for the panel
Created: 1 Aug 2019, 5:10 p.m. | Last Modified: 1 Aug 2019, 5:10 p.m.
Panel Version: 1.24
Comment on list classification: Two families reported to date, one of which had oligodactyly. Further evidence needed before making green. Rating agreed with Genomics England clinical team.
Created: 25 Nov 2019, 10:47 p.m. | Last Modified: 25 Nov 2019, 10:47 p.m.
Panel Version: 1.113
Associated with Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies (614416) in OMIM.
PMID: 22019272 - Laue et al 2011 - 2 cases, 1 with a relevant limb phenotype. Family 1 - three siblings born to first-cousin parents who exhibited combinations of severe craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects. First proband presented as a fetal death, and subsequent second and third sibs were identified as affected by ultrasonography in two separate pregnancies. Homozygosity for p.Arg363Leu in CYP26B1 was found in all 3 sibs. The parents were heterozygous. Family 2 - individual with a likely diagnosis of Antley-Bixler syndrome born to consanguineous parents. Homozygosity for p.Ser146Pro was found. The phenotype of this female included coronal and lambdoid craniosynostosis, a large sagittal skull defect, limited elbow extension, and arachnodactyly.
PMID: 27410456 - Morton et al 2016 - 1 case. A woman homozygous for c.1303G>A; p.(Gly435Ser) in CYP26B1, which was associated with multisutural synostosis, radiohumeral synostosis, normal bone mineral density, and apparent intellectual disability. Reported limb phenotypes are camptodactyly of the fingers, long and narrow feet, short third and fourth metatarsals, and small third to fifth toenails.
Created: 1 Aug 2019, 1:35 p.m. | Last Modified: 1 Aug 2019, 1:35 p.m.
Panel Version: 1.10
Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Created: 31 Jul 2019, 4:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
Gene: cyp26b1 has been classified as Amber List (Moderate Evidence).
gene: CYP26B1 was added gene: CYP26B1 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP26B1 were set to 22019272; 27410456 Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 Review for gene: CYP26B1 was set to AMBER