CNNM2

cyclin and CBS domain divalent metal cation transport mediator 2
OMIM: 607803, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber CNNM2 in Unexplained young onset end-stage renal disease Version 3.42 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Hypomagnesemia, seizures, and mental retardation, OMIM:616418 renal hypomagnesemia 6, MONDO:0013480 Hypomagnesemia, seizures, and mental retardation, MONDO:0014631 Hypomagnesemia 6, renal, OMIM:613882 Tags Q4_23_promote_green
Green CNNM2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism) Hypomagnesemia 6, renal 613882 Hypomagnesemia, seizures, and mental retardation 616418
Green CNNM2 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism) Hypomagnesemia 6, renal 613882 Hypomagnesemia, seizures, and mental retardation 616418
Green CNNM2 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CNNM2-related neurodevelopmental disorder with hypomagnesemia autosomal recessive form
Green CNNM2 in Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.17 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list 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
Green CNNM2 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Phenotypes Hypomagnesemia, seizures, and mental retardation, OMIM:616418 Hypomagnesemia, seizures, and mental retardation, MONDO:0014631
Green CNNM2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.550 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Expert Review Green Expert Review Literature Phenotypes Hypomagnesemia, seizures, and mental retardation, OMIM:616418 Hypomagnesemia, seizures, and mental retardation, MONDO:0014631
Red CNNM2 in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green CNNM2 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Hypomagnesemia, seizures, and mental retardation, 616418 Hypomagnesemia 6, renal, 613882