Paediatric disorders - additional genes
Gene: HMGA2EnsemblGeneIds (GRCh38): ENSG00000149948
EnsemblGeneIds (GRCh37): ENSG00000149948
OMIM: 600698, Gene2Phenotype
HMGA2 is in 6 panels
3 reviews
Ida Ertmanska (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Mar 2026, 12:58 p.m. | Last Modified: 11 Mar 2026, 12:58 p.m.
Panel Version: 7.33
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Tracy Lester, the phenotypes observed are relevant to R27 Paediatric disorders clinical indication. In addition, this gene is currently missing in DDG2P panel and the phenotypes are not relevant to any other components of R27.
There is sufficient evidence available for green rating and hence this gene should be promoted to green in the next GMS review.Created: 13 Jan 2025, 7:26 p.m. | Last Modified: 13 Jan 2025, 7:26 p.m.
Panel Version: 6.10
There are at least five unrelated patients reported with five different monoallelic HMGA2 variants (four deletions and one substitution) and Silver-Russell syndrome in the above listed publications.
Silver-Russell syndrome is characterised by intrauterine growth retardation, with feeding difficulties in early childhood and postnatal growth failure.
This gene has been associated with relevant phenotypes in OMIM (MIM #618908), but not yet in Gene2Phenotype.Created: 13 Jan 2025, 11:18 a.m. | Last Modified: 13 Jan 2025, 11:18 a.m.
Panel Version: 6.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Silver-Russell syndrome 5, OMIM:618908
Publications
Tracy Lester (Genetics laboratory, Oxford UK)
This gene is on the R453 panel but absent from R27 - adding so that syndromic cases of short stature have all genes on the R453 panel covered.
Sources: NHS GMSCreated: 18 Nov 2024, 12:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Silver-Russell syndrome 5, OMIM:618908
- OMIM
- 600698
- Clinvar variants
- Variants in HMGA2
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Ida Ertmanska (Genomics England Curator)Tag Q1_25_ NHS_review was removed from gene: HMGA2. Tag Q1_25_ promote_green was removed from gene: HMGA2.
Added New Source, Status Update
Ida Ertmanska (Genomics England Curator)Source Expert Review Green was added to HMGA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: hmga2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: HMGA2 were changed from to Silver-Russell syndrome 5, OMIM:618908
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: HMGA2 were set to
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_25_ NHS_review tag was added to gene: HMGA2. Tag Q1_25_ promote_green tag was added to gene: HMGA2.
Created, Added New Source, Set mode of inheritance, Set penetrance
Tracy Lester (Genetics laboratory, Oxford UK)gene: HMGA2 was added gene: HMGA2 was added to Paediatric disorders - additional genes. Sources: NHS GMS Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Penetrance for gene: HMGA2 were set to unknown Review for gene: HMGA2 was set to GREEN gene: HMGA2 was marked as current diagnostic