Activity
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8 actions
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| Fetal anomalies v0.2492 | SUFU | Zornitza Stark Marked gene: SUFU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2492 | SUFU | Zornitza Stark Gene: sufu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2492 | SUFU | Zornitza Stark Phenotypes for gene: SUFU were changed from Joubert syndrome 32, OMIM: 617757; Joubert Syndrome with Cranio-facial and Skeletal Defects to Basal cell nevus syndrome, MIM# 109400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2491 | SUFU | Zornitza Stark Mode of inheritance for gene: SUFU was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2490 | SUFU | Zornitza Stark Classified gene: SUFU as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2490 | SUFU | Zornitza Stark Gene: sufu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2489 | SUFU |
Zornitza Stark edited their review of gene: SUFU: Added comment: Rib anomalies and cleft palate are a feature of the mono-allelic disorder. The signs of the bi-alellic disorder are relatively subtle and unlikely to be detectable antenatally.; Changed rating: GREEN; Changed phenotypes: Basal cell nevus syndrome, MIM# 109400; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Fetal anomalies v0.0 | SUFU |
Zornitza Stark gene: SUFU was added gene: SUFU was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SUFU was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SUFU were set to 21289193; 33024317; 28965847 Phenotypes for gene: SUFU were set to Joubert syndrome 32, OMIM: 617757; Joubert Syndrome with Cranio-facial and Skeletal Defects |
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