| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Frontonasal dysplasia v0.20 | EFNB1 | Zornitza Stark Marked gene: EFNB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v0.20 | EFNB1 | Zornitza Stark Gene: efnb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v0.20 | EFNB1 | Zornitza Stark Classified gene: EFNB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v0.20 | EFNB1 | Zornitza Stark Gene: efnb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v0.19 | EFNB1 |
Zornitza Stark 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 Added comment: 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 list |
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