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  3. HMGA2
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Growth failure

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 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Silver-Russell syndrome-5 (SRS5) is characterized by intrauterine growth retardation, with feeding difficulties in early childhood and postnatal growth failure. Relative macrocephaly may be present at birth. Other dysmorphic features include triangular face with prominent forehead.

More than 5 unrelated families reported.
Created: 6 Aug 2021, 7:34 a.m. | Last Modified: 6 Aug 2021, 7:34 a.m.
Panel Version: 0.43

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Silver-Russell syndrome 5, MIM# 618908

Publications

Created: 6 Aug 2021, 7:34 a.m.
Last Modified: 6 Aug 2021, 7:34 a.m.
Panel version: 0.43

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Silver-Russell syndrome 5, MIM# 618908
  • MONDO:0020795
OMIM
600698
Clinvar variants
Variants in HMGA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HMGA2 were changed from Silver-Russell syndrome 5, MONDO:0020795; Silver-Russell syndrome 5, OMIM:618908 to Silver-Russell syndrome 5, MIM# 618908; MONDO:0020795

6 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HMGA2 were set to 29655892

19 Jul 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HMGA2 was added gene: HMGA2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,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, MONDO:0020795; Silver-Russell syndrome 5, OMIM:618908