DDG2P
Gene: MIR140

MIR140 (microRNA 140)
EnsemblGeneIds (GRCh38): ENSG00000208017
EnsemblGeneIds (GRCh37): ENSG00000208017
OMIM: 611894, Gene2Phenotype
MIR140 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for MIR140-related spondyloepiphyseal dysplasia, Nishimura type are moderate, monoallelic_autosomal and gain of function (PMID:30804514). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03725.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MONDO:0032835; MIR140-related spondyloepiphyseal dysplasia, Nishimura type

Publications

30804514

Mode of pathogenicity
Other

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MONDO:0032835
MIR140-related spondyloepiphyseal dysplasia, Nishimura type

OMIM

611894

Clinvar variants

Variants in MIR140

Penetrance

None

Publications

30804514

Mode of Pathogenicity

Other

Panels with this gene

DDG2P

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MIR140 was added gene: MIR140 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MIR140 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MIR140 were set to 30804514 Phenotypes for gene: MIR140 were set to MONDO:0032835; MIR140-related spondyloepiphyseal dysplasia, Nishimura type Mode of pathogenicity for gene: MIR140 was set to Other

DDG2P Gene: MIR140