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Intellectual disability

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)

Comment on phenotypes: Also associated with Hypomagnesemia 6, renal 613882
Created: 28 Feb 2017, 10:58 a.m.
Associated with phenotype Hypomagnesemia, seizures, and mental retardation 616418 in OMIM, not in G2P. At 3 least variants reported in 4 cases, in vitro evidence also reported
Created: 28 Feb 2017, 10:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypomagnesemia, seizures, and mental retardation 616418

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Hypomagnesemia, seizures, and mental retardation 616418
OMIM
607803
Clinvar variants
Variants in CNNM2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

28 Feb 2017, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

CNNM2 was added to Intellectual disabilitypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

28 Feb 2017, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

CNNM2 was added to Intellectual disabilitypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Feb 2017, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CNNM2 were set to Hypomagnesemia, seizures, and mental retardation 616418

28 Feb 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

CNNM2 was added to Intellectual disabilitypanel. Sources: Literature,Expert Review

28 Feb 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CNNM2 was created by sleigh