Frontonasal dysplasia
Gene: EFNB1
EFNB1 (ephrin B1)
EnsemblGeneIds (GRCh38): ENSG00000090776
EnsemblGeneIds (GRCh37): ENSG00000090776
OMIM: 300035, Gene2Phenotype
EFNB1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000090776
EnsemblGeneIds (GRCh37): ENSG00000090776
OMIM: 300035, Gene2Phenotype
EFNB1 is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
XLD. More than 20 families reported.
Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism.
Sources: Expert listCreated: 18 Jan 2021, 11:47 p.m.
Mode of inheritance
Other
Phenotypes
Craniofrontonasal dysplasia, MIM# 304110
Publications
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Craniofrontonasal dysplasia, MIM# 304110
- OMIM
- 300035
- Clinvar variants
- Variants in EFNB1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
18 Jan 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: efnb1 has been classified as Green List (High Evidence).
18 Jan 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: efnb1 has been classified as Green List (High Evidence).
18 Jan 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EFNB1 was added gene: EFNB1 was added to Frontonasal dysplasia. Sources: Expert list Mode of inheritance for gene: EFNB1 was set to Other Publications for gene: EFNB1 were set to 15166289 Phenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia, MIM# 304110 Review for gene: EFNB1 was set to GREEN