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DDG2P

Gene: SETD2

Green List (high evidence)

SETD2 (SET domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000181555
EnsemblGeneIds (GRCh37): ENSG00000181555
OMIM: 612778, Gene2Phenotype
SETD2 is in 7 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease SETD2-associated Overgrowth Syndrome (Luscan-Lumish syndrome) is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 24852293;27317772). The DDG2P confidence category for the disease Rabin-Pappas syndrome is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 32710489;34978780).
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
Rabin-Pappas syndrome; SETD2-associated Overgrowth Syndrome (Luscan-Lumish 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
  • SETD2-associated Overgrowth Syndrome
OMIM
612778
Clinvar variants
Variants in SETD2
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 SETD2. Publications for gene: SETD2 were updated from 24852293; 27317772 to 34978780; 27317772; 32710489; 24852293 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: SETD2 was added gene: SETD2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SETD2 were set to 24852293; 27317772 Phenotypes for gene: SETD2 were set to SETD2-associated Overgrowth Syndrome