| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.1596 | FGFR3 | Zornitza Stark Marked gene: FGFR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1596 | FGFR3 | Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1596 | FGFR3 | Zornitza Stark Phenotypes for gene: FGFR3 were changed from CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; ACHONDROPLASIA; THANATOPHORIC DYSPLASIA TYPE 2; HYPOCHONDROPLASIA; MUENKE SYNDROME; THANATOPHORIC DYSPLASIA TYPE 1; CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS to LADD syndrome, MIM#149730; Achondroplasia, MIM# 100800; Thanatophoric dysplasia, type I, MIM# 187600; Thanatophoric dysplasia, type II, MIM# 187601 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1595 | FGFR3 | Zornitza Stark Mode of inheritance for gene: FGFR3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1594 | FGFR3 |
Zornitza Stark changed review comment from: Well established gene-disease association. Variable radial ray defects (at the most severe, bilateral radial aplasia) are a feature of LADD syndrome. Sources: Expert list; to: Well established gene-disease association with skeletal dysplasias of variable severity, including perinatal lethal. Variable radial ray defects (at the most severe, bilateral radial aplasia) are a feature of LADD syndrome. Sources: Expert list |
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| Fetal anomalies v0.1594 | FGFR3 | Zornitza Stark edited their review of gene: FGFR3: Changed phenotypes: LADD syndrome, MIM#149730, Achondroplasia, MIM# 100800, Thanatophoric dysplasia, type I, MIM# 187600, Thanatophoric dysplasia, type II, MIM# 187601 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FGFR3 |
Zornitza Stark gene: FGFR3 was added gene: FGFR3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR3 were set to CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; ACHONDROPLASIA; THANATOPHORIC DYSPLASIA TYPE 2; HYPOCHONDROPLASIA; MUENKE SYNDROME; THANATOPHORIC DYSPLASIA TYPE 1; CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS |
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