Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: SETD2

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple affected individuals with macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures
Sources: Expert list
Created: 4 Jul 2020, 11:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Luscan-Lumish syndrome, MIM#616831

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Luscan-Lumish syndrome, 616831
OMIM
612778
Clinvar variants
Variants in SETD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SETD2 were set to 29681085

5 Oct 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SETD2 were changed from Luscan-Lumish syndrome, MIM#616831 to Luscan-Lumish syndrome, 616831

4 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SETD2 was added gene: SETD2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD2 were set to 29681085 Phenotypes for gene: SETD2 were set to Luscan-Lumish syndrome, MIM#616831 Review for gene: SETD2 was set to GREEN gene: SETD2 was marked as current diagnostic