1. Panels
  2. Macrocephaly_Megalencephaly
  3. SETD2
STRs in panel
Prev Next
Regions in panel
Prev Next

Macrocephaly_Megalencephaly

Gene: SETD2

Green List (high evidence)
SETD2 (SET domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000181555
EnsemblGeneIds (GRCh37): ENSG00000181555
OMIM: 612778, Gene2Phenotype
SETD2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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
Created: 25 Jun 2020, 10:47 a.m. | Last Modified: 25 Jun 2020, 10:47 a.m.
Panel Version: 0.33

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Luscan-Lumish syndrome, MIM#616831

Publications

Created: 25 Jun 2020, 10:47 a.m.
Last Modified: 25 Jun 2020, 10:47 a.m.
Panel version: 0.33

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Luscan-Lumish syndrome, MIM#616831
OMIM
612778
Clinvar variants
Variants in SETD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: setd2 has been classified as Green List (High Evidence).

25 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SETD2 were set to

25 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SETD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SETD2 was added gene: SETD2 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SETD2 was set to Unknown