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| Fetal anomalies v0.166 | ARSA | Rebecca Foulger edited their review of gene: ARSA: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Can cause leukodystrophy.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NOG | Rebecca Foulger commented on gene: NOG: DDG2P rating in original PAGE list: Confirmed for SYMPHALANGISM PROXIMAL SYNDROME, Confirmed for STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, Confirmed for MULTIPLE SYNOSTOSES SYNDROME TYPE 1, Confirmed for TARSAL-CARPAL COALITION SYNDROME, and Confirmed for BRACHYDACTYLY TYPE B2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | FLNB | Rebecca Foulger commented on gene: FLNB: DDG2P rating in original PAGE list: Confirmed for SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, Confirmed for BOOMERANG DYSPLASIA, Confirmed for AUTOSOMAL DOMINANT LARSEN SYNDROME, Confirmed for ATELOSTEOGENESIS TYPE 3 and Confirmed for ATELOSTEOGENESIS TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARSA | Rebecca Foulger reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | NOG | Rebecca Foulger Added phenotypes TARSAL-CARPAL COALITION SYNDROME for gene: NOG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | MAFB |
Rebecca Foulger gene: MAFB was added gene: MAFB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME |
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| Fetal anomalies v0.1 | FLNB |
Rebecca Foulger gene: FLNB was added gene: FLNB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FLNB were set to SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME |
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| Fetal anomalies v0.1 | DDX11 |
Rebecca Foulger gene: DDX11 was added gene: DDX11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDX11 were set to WARSAW BREAKAGE SYNDROME |
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| Fetal anomalies v0.1 | ARSA |
Rebecca Foulger gene: ARSA was added gene: ARSA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to ARYLSULFATASE A DEFICIENCY |
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