Silver Russell syndrome

Gene: PLAG1

Green List (high evidence)

PLAG1 (PLAG1 zinc finger)
EnsemblGeneIds (GRCh38): ENSG00000181690
EnsemblGeneIds (GRCh37): ENSG00000181690
OMIM: 603026, Gene2Phenotype
PLAG1 is in 2 panels

3 reviews

Ivone Leong (Genomics England Curator)

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

Rebecca Foulger (Genomics England curator)

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.

Anna de Burca (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • SRS
  • Silver-Russell syndrome
OMIM
603026
Clinvar variants
Variants in PLAG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: plag1 has been classified as Green List (High Evidence).

6 Nov 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PLAG1 were changed from to SRS; Silver-Russell syndrome

6 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Ivone Leong (Genomics England Curator)

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