Amelogenesis imperfecta
Gene: CNNM4

CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4)
EnsemblGeneIds (GRCh38): ENSG00000158158
EnsemblGeneIds (GRCh37): ENSG00000158158
OMIM: 607805, Gene2Phenotype
CNNM4 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Jalili syndrome is an autosomal recessive disorder consisting of cone-rod dystrophy and amelogenesis imperfecta. Significant visual impairment with nystagmus and photophobia is present from infancy or early childhood and progresses with age. Enamel of primary and secondary dentitions is grossly abnormal and prone to rapid posteruptive failure, in part reflecting hypomineralization.

>100 affected individuals reported.
Created: 11 Aug 2021, 11:57 p.m. | Last Modified: 11 Aug 2021, 11:59 p.m.

Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jalili syndrome, MIM# 217080

Publications

Created: 11 Aug 2021, 11:57 p.m.
Last Modified: 11 Aug 2021, 11:59 p.m.
Panel version: 0.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Jalili syndrome, MIM#217080
cone-rod dystrophy and amelogenesis imperfecta

OMIM

607805

Clinvar variants

Variants in CNNM4

Penetrance

None

Publications

Panels with this gene