Monogenic short stature

Gene: PLAG1

I don't know

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.

I don't know

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

• 28796236

Green List (high evidence)

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