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  2. Structural eye disease
  3. CNNM4
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Structural eye disease

Gene: CNNM4

Amber List (moderate 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

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

Rahimi-Aliabadi: one family with coloboma
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jalili syndrome; 217080

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

I don't know

Promoted from red to amber based on the expert review provided.
Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Rahimi-Aliabadi: one family with coloboma
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jalili syndrome, 217080

Publications

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Jalili syndrome, 217080
  • Eye Disorders
OMIM
607805
Clinvar variants
Variants in CNNM4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Apr 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to CNNM4. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CNNM4. Mode of inheritance for gene CNNM4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Jalili syndrome, 217080 for gene: CNNM4 Publications for gene CNNM4 were changed from to 27419834

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CNNM4 was added gene: CNNM4 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CNNM4 was set to Phenotypes for gene: CNNM4 were set to Eye Disorders