| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.2547 | C7orf43 | Zornitza Stark Marked gene: C7orf43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2547 | C7orf43 | Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: MAP11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2547 | C7orf43 | Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2547 | C7orf43 | Zornitza Stark Classified gene: C7orf43 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2547 | C7orf43 | Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2546 | C7orf43 |
Zornitza Stark gene: C7orf43 was added gene: C7orf43 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C7orf43 were set to 30715179 Phenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM# 618351 Review for gene: C7orf43 was set to AMBER Added comment: Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model. Sources: Literature |
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