DDG2P
Gene: HMGA2

HMGA2 (high mobility group AT-hook 2)
EnsemblGeneIds (GRCh38): ENSG00000149948
EnsemblGeneIds (GRCh37): ENSG00000149948
OMIM: 600698, Gene2Phenotype
HMGA2 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for HMGA2-related Silver-Russell-like syndrome are strong, monoallelic_autosomal and loss of function (PMIDs: 21803798, 25809938, 29655892, 32421827, 38516887, 38840187). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03917.
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:0020795; HMGA2-related Silver-Russell-like syndrome

Publications

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:0020795
HMGA2-related Silver-Russell-like syndrome

OMIM

600698

Clinvar variants

Variants in HMGA2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: HMGA2 was added gene: HMGA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HMGA2 were set to 21803798; 38516887; 38840187; 32421827; 29655892; 25809938 Phenotypes for gene: HMGA2 were set to MONDO:0020795; HMGA2-related Silver-Russell-like syndrome

DDG2P Gene: HMGA2