Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Congenital Myasthenic Syndrome, Dominant/Recessive, Myasthenic syndrome, slow-channel congenital, 601462 |
Green in Congenital myaesthenic syndromeComponent of the following Super Panels:
R-numbers: R80 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, OMIM:616314, Myasthenic syndrome, congenital, 2A, slow-channel, OMIM:616313 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313, ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 |