Amelogenesis imperfecta
Gene: CNNM4EnsemblGeneIds (GRCh38): ENSG00000158158
EnsemblGeneIds (GRCh37): ENSG00000158158
OMIM: 607805, Gene2Phenotype
CNNM4 is in 4 panels
2 reviews
emma baple (Genomics England Curator)
Comment when marking as ready: Ready for useCreated: 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)
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.Created: 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
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
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)CNNM4 was added to Amelogenesis Imperfectapanel. Source: Other
Created
Rebecca Foulger (Genomics England curator)CNNM4 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)CNNM4 was added to Amelogenesis Imperfectapanel. Sources: Emory Genetics Laboratory