Silver Russell syndromeGene: PLAG1
Comment on list classification: Promoted from Red to Green. This gene 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).
Created: 6 Nov 2019, 10:31 a.m. | Last Modified: 6 Nov 2019, 10:31 a.m.
Panel Version: 1.9
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that PLAG1 should be included on the panel. Therefore updated rating from Red to Green.
Created: 30 May 2019, 9:34 a.m.
This paper reports a frameshift variant in PLAG1 in a proband and two family members with clinical features consistent with Silver-Russell syndrome. A second frameshift variant was found in a singleton from a cohort of patients with suspected Silver-Russell syndrome. No information on population frequency of these variants. PLAG1 was found to be a positive regulator of IGF2. In fibroblasts from one of the patients, IGF2 levels were found to be half that of controls.
Created: 20 May 2019, 6:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: plag1 has been classified as Green List (High Evidence).
Phenotypes for gene: PLAG1 were changed from to SRS; Silver-Russell syndrome
gene: PLAG1 was added gene: PLAG1 was added to Silver Russell syndrome. Sources: Expert Review Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLAG1 were set to 28796236