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DDG2P

Gene: SET

Green List (high evidence)

SET (SET nuclear proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000119335
EnsemblGeneIds (GRCh37): ENSG00000119335
OMIM: 600960, Gene2Phenotype
SET is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease SET syndrome is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 29907757;35122673;28135719;29688601).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
SET syndrome

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • SET syndrome
OMIM
600960
Clinvar variants
Variants in SET
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to SET. Publications for gene: SET were updated from 28135719 to 35122673; 29688601; 28135719; 29907757 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: SET was added gene: SET was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SET were set to 28135719 Phenotypes for gene: SET were set to SET syndrome