DDG2P
Gene: PLAG1

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease PLAG1-associated Silver Russell Syndrome is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 33291420;34480472).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
PLAG1-associated Silver Russell Syndrome

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

PLAG1-associated Silver Russell Syndrome

OMIM

603026

Clinvar variants

Variants in PLAG1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PLAG1 was added gene: PLAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLAG1 were set to 33291420; 34480472 Phenotypes for gene: PLAG1 were set to PLAG1-associated Silver Russell Syndrome

DDG2P Gene: PLAG1