Genes in panel
Regions in panel
Prev Next

Mendeliome

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)

At least four families reported with SNVs.
Created: 14 Jun 2020, 7:55 a.m. | Last Modified: 14 Jun 2020, 7:55 a.m.
Panel Version: 0.3065
Evidence predominantly from CNVs also at least one report of SNV.
Created: 9 Mar 2020, 10:24 p.m. | Last Modified: 9 Mar 2020, 10:24 p.m.
Panel Version: 0.1665

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Silver-Russel syndrome, MIM#618908

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Silver-Russel syndrome, MIM#618908
Tags
SV/CNV
OMIM
600698
Clinvar variants
Variants in HMGA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HMGA2 were changed from Silver-Russel syndrome to Silver-Russel syndrome, MIM#618908

14 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HMGA2 were set to 29655892; 25809938

14 Jun 2020, 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).

9 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hmga2 has been classified as Amber List (Moderate Evidence).

9 Mar 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HMGA2 were changed from to Silver-Russel syndrome

9 Mar 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HMGA2 were set to

9 Mar 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HMGA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Mar 2020, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: HMGA2.

9 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hmga2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HMGA2 was added gene: HMGA2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HMGA2 was set to Unknown