Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes CNNM2-related neurodevelopmental disorder with hypomagnesemia, autosomal recessive form |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.134 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hypomagnesemia, seizures, and mental retardation, OMIM:616418, Hypomagnesemia, seizures, and mental retardation, MONDO:0014631 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hypomagnesemia, seizures, and mental retardation, OMIM:616418, Hypomagnesemia, seizures, and mental retardation, MONDO:0014631 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism), Hypomagnesemia 6, renal 613882, Hypomagnesemia, seizures, and mental retardation 616418 |
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 4.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Hypomagnesemia 6, renal, OMIM:613882, Hypomagnesemia, seizures, and mental retardation, OMIM:616418, renal hypomagnesemia 6, MONDO:0013480, Hypomagnesemia, seizures, and mental retardation, MONDO:0014631 |