Growth failure in early childhood
Gene: HMGA2EnsemblGeneIds (GRCh38): ENSG00000149948
EnsemblGeneIds (GRCh37): ENSG00000149948
OMIM: 600698, Gene2Phenotype
HMGA2 is in 6 panels
3 reviews
Rebecca Foulger (Genomics England curator)
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 (Oxford University Hospitals NHS Foundation Trust)
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
Ivone Leong (Genomics England Curator)
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
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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HMGA2 were changed from Silver-Russell syndrome 5, OMIM:618908; Silver-Russell syndrome 5, MONDO:0020795 to Silver-Russell syndrome 5, OMIM:618908
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HMGA2 were changed from SRS; Silver-Russell syndrome to Silver-Russell syndrome 5, OMIM:618908; Silver-Russell syndrome 5, MONDO:0020795
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: HMGA2 were changed from SRS to SRS; Silver-Russell syndrome
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: HMGA2 were set to
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Green was added to HMGA2. Rating Changed from Red List (low evidence) to Green List (high evidence)
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: HMGA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: HMGA2 was added gene: HMGA2 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: HMGA2 was set to Phenotypes for gene: HMGA2 were set to SRS