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Paediatric disorders - additional genes

Gene: PLAG1

Amber List (moderate evidence)
PLAG1 (PLAG1 zinc finger)
EnsemblGeneIds (GRCh38): ENSG00000181690
EnsemblGeneIds (GRCh37): ENSG00000181690
OMIM: 603026, Gene2Phenotype
PLAG1 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As reviewed by Tracy Lester, the phenotypes observed are relevant to R27 Paediatric disorders clinical indication, and this gene is present with 'strong' rating on the DD panel of Gene2Phenotype database. As there is sufficient evidence available for green rating, this gene should be promoted to green in the next GMS review.
Created: 7 Jan 2025, 9:33 p.m. | Last Modified: 7 Jan 2025, 9:36 p.m.
Panel Version: 6.4
There are a total of five unrelated families reported with monoallelic variants and with Silver-Russell syndrome 4. It is characterised by intrauterine growth retardation followed by feeding difficulties and postnatal growth restriction. In addition, dysmorphic facial features include triangular face and prominent forehead, and relative macrocephaly at birth may be observed.

This gene has also been associated with relevant phenotype in both OMIM (MIM #618907) and Gene2Phenotype (with 'strong' rating on the DD panel).
Created: 7 Jan 2025, 9:28 p.m. | Last Modified: 7 Jan 2025, 9:28 p.m.
Panel Version: 6.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Silver-Russell syndrome 4, OMIM:618907

Publications

Created: 7 Jan 2025, 9:28 p.m.
Last Modified: 7 Jan 2025, 9:36 p.m.
Panel version: 6.3

Tracy Lester (Genetics laboratory, Oxford UK)

This gene is on the R453 panel but absent from R27 - adding so that syndromic cases of short stature have all genes on the R453 panel covered.
Sources: NHS GMS
Created: 18 Nov 2024, 12:20 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
short stature

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 18 Nov 2024, 12:20 p.m.

Panel version: 6.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Silver-Russell syndrome 4, OMIM:618907
Tags
Q1_25_ NHS_review Q1_25_ promote_green
OMIM
603026
Clinvar variants
Variants in PLAG1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

13 Jan 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: PLAG1 were changed from short stature to Silver-Russell syndrome 4, OMIM:618907

7 Jan 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: plag1 has been classified as Amber List (Moderate Evidence).

7 Jan 2025, Gel status: 0

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: PLAG1. Tag Q1_25_ promote_green tag was added to gene: PLAG1.

18 Nov 2024, Gel status: 0

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

Tracy Lester (Genetics laboratory, Oxford UK)

gene: PLAG1 was added gene: PLAG1 was added to Paediatric disorders - additional genes. Sources: NHS GMS Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLAG1 were set to 28796236 Phenotypes for gene: PLAG1 were set to short stature Penetrance for gene: PLAG1 were set to unknown gene: PLAG1 was marked as current diagnostic