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Limb disorders v2.43 | FZD2 | Arina Puzriakova Phenotypes for gene: FZD2 were changed from Omodysplasia 2, 164745; Robinow syndrome to Omodysplasia 2, OMIM:164745; Robinow syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.118 | FZD2 | Eleanor Williams Classified gene: FZD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.118 | FZD2 | Eleanor Williams Added comment: Comment on list classification: 4 families, three with brachydactyly and variable presence of other features (clinodactyly, camptodactyly, broad 1st digits). Genomics England clinical team confirm it is appropriate for the limb disorders panel as well as the skeletal dysplasia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.118 | FZD2 | Eleanor Williams Gene: fzd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.32 | FZD2 | Eleanor Williams Phenotypes for gene: FZD2 were changed from to Omodysplasia 2, 164745; Robinow syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.31 | FZD2 | Eleanor Williams Publications for gene: FZD2 were set to 29276006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.30 | FZD2 |
Eleanor Williams commented on gene: FZD2: Associated with Omodysplasia 2 (#164745) in OMIM. Omodysplasia 2: PMID: 25759469 - Saal et al. 2015 - 1 case - a mother and daughter with omodysplasia were found to have a FZD2 mutation (c.1644G>A, p.Trp548*). The variant was found to have occurred de novo in the mother. The altered protein is still produced in vitro, but is shown to have reduced ability to interact with its downstream target DISHEVELLED. The mother had multiple anomalies, including bilateral cleft lip and cleft palate, short upper extremities, dysmorphic facial features and hypoplastic labia and clitoris. Skeletal X rays of the daughter showed hypoplasia of T11 vertebral body and bilateral dislocation of the radius with short humeri. At 6 years musculoskeletal examination showed primarily rhizomelic shortening of the upper extremities and a mild shortening of the forearms with limited forearm supination/pronation. There was mild fifth finger clinodactyly with no brachydactyly. Robinow syndrome: PMID: 29276006 - White et al 2018 - 4 families with at least one individual clinical diagnosed with Robinow or Robinow-like phenotypes and with variants in FZD2 were identified . All showed limb phenotypes including mesomelic limb shortening (3 families, mild in one case), brachdactyly (3 families), proximaly implanted thumbs (1 family), Medelung deformity (1 family). |
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Limb disorders v1.30 | FZD2 | Eleanor Williams Publications for gene: FZD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | FZD2 | Andrew Wilkie reviewed gene: FZD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.14 | FZD2 |
Eleanor Williams gene: FZD2 was added gene: FZD2 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: FZD2 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |