Amelogenesis imperfecta

Gene: CNNM4

Green List (high evidence)

CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4)
EnsemblGeneIds (GRCh38): ENSG00000158158
EnsemblGeneIds (GRCh37): ENSG00000158158
OMIM: 607805, Gene2Phenotype
CNNM4 is in 4 panels

2 reviews

emma baple (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Ready for use
16 Oct 2017, 8:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jalili syndrome; cone rod dystrophy; amelogenesis imperfecta

Publications

Claire Smith (University of Leeds)

Green List (high evidence)

Over 16 different variants have been identified in CNNM4 in patients with Jallili syndrome, including loss of function alleles such as frameshift and nonsense variants. Missense variants have also been reported. The magnesium transporter is expressed both in the retina and in the ameloblast. Cases of isolated enamel defects have been identified with later presentation / detection of the cone rod dystrophy (CRD), although in general, the CRD is early onset. In one report, PMID:28586144 there was a suggesting that CNNM4 variants might also be associated with mild myopathy and muscle overgrowth, although this link remains unproven.
18 Sep 2017, 3:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
# 217080 Jallili syndrome; hypoplastic / hypomineralised AI; Cone Rod dystrophy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Jalili syndrome, 217080 (includes amelogenesis imperfecta)
  • cone-rod dystrophy and amelogenesis imperfecta
OMIM
607805
Clinvar variants
Variants in CNNM4
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Feb 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

16 Oct 2017, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

16 Oct 2017, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

8 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

CNNM4 was added to Amelogenesis Imperfectapanel. Source: Other

8 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CNNM4 was created by rfoulger

8 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

CNNM4 was added to Amelogenesis Imperfectapanel. Sources: Emory Genetics Laboratory