Growth failure in early childhood
Gene: HMGA2
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.
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
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
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
Phenotypes for gene: HMGA2 were changed from SRS; Silver-Russell syndrome to Silver-Russell syndrome 5, OMIM:618908; Silver-Russell syndrome 5, MONDO:0020795
Phenotypes for gene: HMGA2 were changed from SRS to SRS; Silver-Russell syndrome
Publications for gene: HMGA2 were set to
Source Expert Review Green was added to HMGA2. Rating Changed from Red List (low evidence) to Green List (high evidence)
Mode of inheritance for gene: HMGA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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