Silver Russell syndrome
Gene: HMGA2
This is a Green gene on the Growth failure in early childhood panel (code 473, v1.3), which has been signed off by the GMS Endocrinology specialist group (31/07/2019).
Sources: Expert ReviewCreated: 6 Nov 2019, 10:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SRS; Silver-Russell syndrome
Publications
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
Phenotypes for gene: HMGA2 were changed from SRS; Silver-Russell syndrome to Silver-Russell syndrome 5, OMIM:618908; Silver-Russell syndrome 5, MONDO:0020795
Gene: hmga2 has been classified as Green List (High Evidence).
gene: HMGA2 was added gene: HMGA2 was added to Silver Russell syndrome. Sources: Expert Review 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 SRS; Silver-Russell syndrome Review for gene: HMGA2 was set to GREEN