| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v1.367 | FAAP100 | Zornitza Stark Marked gene: FAAP100 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.367 | FAAP100 | Zornitza Stark Gene: faap100 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.367 | FAAP100 | Zornitza Stark Classified gene: FAAP100 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.367 | FAAP100 | Zornitza Stark Gene: faap100 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.366 | FAAP100 |
Zornitza Stark gene: FAAP100 was added gene: FAAP100 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FAAP100 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAAP100 were set to 40244696; 40232843 Phenotypes for gene: FAAP100 were set to Fanconi anaemia, MONDO:0019391, FAAP100-related Review for gene: FAAP100 was set to GREEN Added comment: PMID 40244696: reports two families with homozygous LoF variants. First family had 6 pregnancy losses and two infants with a severe phenotype characterised by multiple congenital anomalies. Second family had one liveborn child with multiple anomalies and a termination of pregnancy for multiple congenital anomalies. Supportive functional data. Third family reported in PMID 40232843, homozygous missense variant in a fetus with multiple congenital anomalies suggestive of FA. Functional data. Sources: Literature |
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