| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hydrocephalus_Ventriculomegaly v1.3 | FANCA | Krithika Murali Marked gene: FANCA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v1.3 | FANCA | Krithika Murali Gene: fanca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v1.3 | FANCA | Krithika Murali Classified gene: FANCA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v1.3 | FANCA | Krithika Murali Gene: fanca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v1.2 | FANCA |
Krithika Murali gene: FANCA was added gene: FANCA was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCA were set to PMID: 23653579 Phenotypes for gene: FANCA were set to Fanconi anaemia complementation group A - MONDO:0009215 Review for gene: FANCA was set to GREEN Added comment: FANCA also associated with hydrocephalus (PMID:23653579). Note internal case of prenatal presentation with hydrocephalus as the primary presenting feature with additional anomalies noted on serial imaging, secondary to FANCA. PMID:23653579 - other Fanconi anaemia genes also associated with VACTERL-H spectrum. Sources: Literature |
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