Growth failure in early childhood
Gene: PLAG1
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
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: PLAG1 were changed from SRS; Silver-Russell syndrome to Silver-Russell syndrome 4, OMIM:618907
Mode of inheritance for gene: PLAG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PLAG1 were changed from SRS to SRS; Silver-Russell syndrome
Publications for gene: PLAG1 were set to
Source Expert Review Green was added to PLAG1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: PLAG1 was added gene: PLAG1 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: PLAG1 was set to Phenotypes for gene: PLAG1 were set to SRS