Genomics England

CNNM2

cyclin and CBS domain divalent metal cation transport mediator 2

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders 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 epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood 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 disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders 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
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood 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 tubulopathies R-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