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  3. SETD2
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Skeletal dysplasia

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

2 reviews

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, 10:39 a.m. | Last Modified: 25 Jun 2020, 10:39 a.m.
Panel Version: 0.3163

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Luscan-Lumish syndrome, MIM#616831

Publications

Created: 25 Jun 2020, 10:39 a.m.
Last Modified: 25 Jun 2020, 10:39 a.m.
Panel version: Imported from Mendeliome panel version 0.3163

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 29681085 refers to Luscan-Lumish syndrome as SETD2-related overgrowth syndrome; variable phenotype
Created: 25 Jun 2020, 5:56 a.m. | Last Modified: 25 Jun 2020, 5:56 a.m.
Panel Version: 0.3157

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Luscan-Lumish syndrome, 616831 AD

Publications

Created: 25 Jun 2020, 5:56 a.m.
Last Modified: 25 Jun 2020, 5:56 a.m.
Panel version: Imported from Mendeliome panel version 0.3157

Details

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

History Filter Activity

25 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SETD2 were changed from Luscan-Lumish syndrome 616831; Luscan-Lumish syndrome 616831 to Luscan-Lumish syndrome 616831

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SETD2 was added gene: SETD2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SETD2 were set to Luscan-Lumish syndrome 616831; Luscan-Lumish syndrome 616831