Genomics England
GMS Panels
Panels
Genes and Entities

HMGA2

high mobility group AT-hook 2
OMIM: 600698
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MONDO:0020795, HMGA2-related Silver-Russell-like syndrome
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Silver-Russell syndrome 5, OMIM:618908, Silver-Russell syndrome 5, MONDO:0020795
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Silver-Russell syndrome 5, OMIM:618908
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Silver-Russell syndrome 5, OMIM:618908