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  2. Syndromic Retinopathy
  3. CNNM4
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Syndromic Retinopathy

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 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 30705057; Literature review identifying a total of 134 patients
Created: 20 Apr 2020, 3:59 a.m. | Last Modified: 20 Apr 2020, 3:59 a.m.
Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jalili syndrome 217080; amelogenesis imperfecta, cone-rod dystrophy

Publications

Created: 20 Apr 2020, 3:59 a.m.
Last Modified: 20 Apr 2020, 3:59 a.m.
Panel version: Imported from Retinal Dystrophy panel version 0.27

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30705057; Literature review identifying a total of 134 patients
Created: 20 Apr 2020, 1:51 a.m. | Last Modified: 20 Apr 2020, 1:51 a.m.
Panel Version: 0.2361

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jalili syndrome (amelogenesis imperfecta, cone-rod dystrophy)

Publications

Created: 20 Apr 2020, 1:51 a.m.
Last Modified: 20 Apr 2020, 1:51 a.m.
Panel version: Imported from Mendeliome panel version 0.2361

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Jalili syndrome MIM#217080
OMIM
607805
Clinvar variants
Variants in CNNM4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cnnm4 has been classified as Green List (High Evidence).

21 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cnnm4 has been classified as Green List (High Evidence).

21 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CNNM4 was added gene: CNNM4 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: CNNM4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNNM4 were set to 30705057 Phenotypes for gene: CNNM4 were set to Jalili syndrome MIM#217080