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| Limb disorders v4.16 | EFNB1 | Arina Puzriakova Phenotypes for gene: EFNB1 were changed from Craniofrontonasal syndrome, 304110 to Craniofrontonasal dysplasia, OMIM:304110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.111 | EFNB1 | Eleanor Williams Classified gene: EFNB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.111 | EFNB1 | Eleanor Williams Added comment: Comment on list classification: Clear gene:disease association but relatively minor / non-specific digital features. Rating amber based on advice from Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.111 | EFNB1 | Eleanor Williams Gene: efnb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | EFNB1 | Andrew Wilkie reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.9 | EFNB1 |
Eleanor Williams commented on gene: EFNB1: Associated with Craniofrontonasal dysplasia (304110) in OMIM and CRANIOFRONTONASAL SYNDROME in Gene2Phenotype (confirmed). In OMIM Asymmetric lower limb shortness, Joint laxity, Syndactyly, Brachydactyly, Fifth finger clinodactyly and Broad halluces are listed as limb features of the condition and a similar list is given in Gene2Phenotype. CFNS shows a very unusual pattern of X-linked inheritance, in which most affected patients are females and obligate male carriers show no or only mild manifestation, such as hypertelorism . PMID: 15166289 - Twigg et al 2014 - identified significant mutations in EFNB1 in all 20 unrelated Craniofrontonasal syndrome females studied, including nine different de novo mutations. Of the 20, 2 had duplex thumb/hallux and 1 showed lower-limb asymmetry in addition to other features such as coronal craniosynostosis and cleft lip and/or palate. PMID: 23335590 - Twigg et al 2013 - Six severely affected sporadic males with a diagnosis of CFNS. They identified mosaic mutations of EFNB1 in all cases, comprising three missense changes, two gene deletions and a novel point mutation within the 5′ untranslated region (UTR). 4/6 patients had brachydactyly and/or syndactyly. Clinodactyly was also seen in 3 patients. PMID: 15124102 - Weiland et al 2004 - 3 families with variants (deletion of exons 2–5 and two missense variants) in EFNB1 and CFNS. In Family 2 brachydactyly was an observed phenotype. In Family 3 one female showed complete syndactyly of the third and fourth finger on the left side. |
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| Limb disorders v1.9 | EFNB1 |
Eleanor Williams gene: EFNB1 was added gene: EFNB1 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: EFNB1 were set to 15166289; 23335590; 15124102 Phenotypes for gene: EFNB1 were set to Craniofrontonasal syndrome, 304110 Mode of pathogenicity for gene: EFNB1 was set to Other Review for gene: EFNB1 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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