| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.1263 | EFCAB7 | Zornitza Stark Marked gene: EFCAB7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1263 | EFCAB7 | Zornitza Stark Gene: efcab7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1263 | EFCAB7 | Zornitza Stark Classified gene: EFCAB7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1263 | EFCAB7 | Zornitza Stark Gene: efcab7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1255 | EFCAB7 |
Melanie Marty gene: EFCAB7 was added gene: EFCAB7 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: EFCAB7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFCAB7 were set to PMID: 37684519 Phenotypes for gene: EFCAB7 were set to Polydactyly (MONDO:0021003), EFCAB7-related Review for gene: EFCAB7 was set to AMBER Added comment: PMID: 37684519: two homozygous frameshift variants were identified by exome sequencing in four consanguinous Pakistani families, 3 families with p.(Gly277Valfs*5) and 1 family with p.(Asn451Phefs*2). Variants segregated with disease and het carriers were unaffected. Counting as 2 families to be conservative. Sources: Literature |
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