1. Panels
  2. Monogenic short stature
  3. HMGA2
STRs in panel
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Monogenic short stature

Gene: HMGA2

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

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that HMGA2 should be included on the panel. Therefore updated rating from Red to Green.
Created: 30 May 2019, 9:34 a.m.
Created: 30 May 2019, 9:34 a.m.

Copied from panel: Growth failure in early childhood v3.76

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Case report of 12q14.3 deletion affecting exons 1 and 2 of HMGA2; cites additional 4 cases from literature with SNVs/indels/rearrangements affecting this gene and clinical features consistent with Silver-Russell syndrome.
Created: 20 May 2019, 6:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Silver-Russell syndrome

Publications

Created: 20 May 2019, 6:32 a.m.

Copied from panel: Growth failure in early childhood v3.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: SRS.
Created: 14 May 2019, 1:25 p.m.

Phenotypes
SRS

Created: 14 May 2019, 1:25 p.m.

Copied from panel: Growth failure in early childhood v3.76

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Silver-Russell syndrome 5, OMIM:618908
OMIM
600698
Clinvar variants
Variants in HMGA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: HMGA2 was added gene: HMGA2 was added to Monogenic short stature. Sources: Expert list,Expert Review Green Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HMGA2 were set to 29655892 Phenotypes for gene: HMGA2 were set to Silver-Russell syndrome 5, OMIM:618908