| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Congenital Myasthenia v1.20 | MACF1 | Zornitza Stark Marked gene: MACF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v1.20 | MACF1 | Zornitza Stark Gene: macf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v1.20 | MACF1 | Zornitza Stark Classified gene: MACF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v1.20 | MACF1 | Zornitza Stark Gene: macf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v1.19 | MACF1 |
Zornitza Stark gene: MACF1 was added gene: MACF1 was added to Congenital Myasthenia. Sources: Literature Mode of inheritance for gene: MACF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MACF1 were set to 37721175; 30842214 Phenotypes for gene: MACF1 were set to Congenital myasthenic syndrome, MONDO:0018940, MACF1-related Review for gene: MACF1 was set to AMBER Added comment: 3 individuals reported with bi-allelic variants in this gene and a myasthenic phenotype, two congenital, one adult. Some functional data supports association. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||