Amelogenesis imperfecta
Gene: CNNM4
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
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
This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
CNNM4 was added to Amelogenesis Imperfectapanel. Source: Other
CNNM4 was created by rfoulger
CNNM4 was added to Amelogenesis Imperfectapanel. Sources: Emory Genetics Laboratory