| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.37 | EFNB1 | Achchuthan Shanmugasundram Phenotypes for gene: EFNB1 were changed from CRANIOFRONTONASAL SYNDROME, OMIM:304110 to CRANIOFRONTONASAL SYNDROME, OMIM:304110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.37 | EFNB1 | Achchuthan Shanmugasundram Phenotypes for gene: EFNB1 were changed from CRANIOFRONTONASAL SYNDROME, OMIM:304110 to CRANIOFRONTONASAL SYNDROME, OMIM:304110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.37 | EFNB1 | Achchuthan Shanmugasundram Phenotypes for gene: EFNB1 were changed from CRANIOFRONTONASAL SYNDROME 304110 to CRANIOFRONTONASAL SYNDROME, OMIM:304110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EFNB1 | Achchuthan Shanmugasundram reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15124102, 15166289, 16685650; Phenotypes: CRANIOFRONTONASAL SYNDROME, OMIM:304110; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EFNB1 | Achchuthan Shanmugasundram Publications for gene: EFNB1 were updated from 16685650; 15166289; 15124102 to 15124102; 15166289; 16685650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.65 | EFNB1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of inheritance from 'x-linked over-dominance' to standardised PanelApp term for X-linked dominant; this matches the MOI of EFNB1 on other PanelApp panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.65 | EFNB1 | Rebecca Foulger Mode of inheritance for gene: EFNB1 was changed from x-linked over-dominance to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EFNB1 | Rebecca Foulger reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EFNB1 |
Rebecca Foulger gene: EFNB1 was added gene: EFNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EFNB1 was set to x-linked over-dominance Publications for gene: EFNB1 were set to 16685650; 15166289; 15124102 Phenotypes for gene: EFNB1 were set to CRANIOFRONTONASAL SYNDROME 304110 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||