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Inborn errors of metabolism

Gene: CNNM2

Green List (high evidence)

CNNM2 (cyclin and CBS domain divalent metal cation transport mediator 2)
EnsemblGeneIds (GRCh38): ENSG00000148842
EnsemblGeneIds (GRCh37): ENSG00000148842
OMIM: 607803, Gene2Phenotype
CNNM2 is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At 4 least variants reported in 4 cases, in vitro evidence also reported
Created: 28 Feb 2017, 10:47 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypomagnesemia 6, renal 613882; Hypomagnesemia, seizures, and mental retardation 616418

Publications

Details

Mode of Inheritance
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
OMIM
607803
Clinvar variants
Variants in CNNM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CNNM2. Source London North GLH was added to CNNM2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CNNM2 was added gene: CNNM2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CNNM2 were set to 27604308 Phenotypes for gene: CNNM2 were set to Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism); Hypomagnesemia 6, renal 613882; Hypomagnesemia, seizures, and mental retardation 616418