Retinal disorders
Gene: MDM1

MDM1 (Mdm1 nuclear protein)
EnsemblGeneIds (GRCh38): ENSG00000111554
EnsemblGeneIds (GRCh37): ENSG00000111554
OMIM: 613813, Gene2Phenotype
MDM1 is in 1 panel

1 review

Siying Lin (Moorfields Eye Hospital)

Green List (high evidence)

Recent publication (PMID: 41742423) reporting 6 affected individuals from 5 families with biallelic loss of function variants in MDM1 (also known as SAXO6) and retinal dystrophy
Sources: Literature
Created: 27 Feb 2026, 7:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy

Publications

PMID: 41742423

Mode of pathogenicity
Other

Created: 27 Feb 2026, 7:39 a.m.

Panel version: 8.86

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Phenotypes

Retinal dystrophy

OMIM

613813

Clinvar variants

Variants in MDM1

Penetrance

unknown

Publications

PMID: 41742423

Mode of Pathogenicity

Other

Panels with this gene

Retinal disorders

History Filter Activity

27 Feb 2026, Gel status: 0

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

Siying Lin (Moorfields Eye Hospital)

gene: MDM1 was added gene: MDM1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: MDM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDM1 were set to PMID: 41742423 Phenotypes for gene: MDM1 were set to Retinal dystrophy Penetrance for gene: MDM1 were set to unknown Mode of pathogenicity for gene: MDM1 was set to Other Review for gene: MDM1 was set to GREEN

Retinal disorders Gene: MDM1