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Silver Russell syndrome

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 3 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This is a Green gene on the Growth failure in early childhood panel (code 473, v1.3), which has been signed off by the GMS Endocrinology specialist group (31/07/2019).
Sources: Expert Review
Created: 6 Nov 2019, 10:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
SRS; Silver-Russell syndrome

Publications

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.

Anna de Burca (Genomics England Curator)

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

Details

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

History Filter Activity

6 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: hmga2 has been classified as Green List (High Evidence).

6 Nov 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: HMGA2 was added gene: HMGA2 was added to Silver Russell syndrome. Sources: Expert Review 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 SRS; Silver-Russell syndrome Review for gene: HMGA2 was set to GREEN