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STRs in panel
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Genetic epilepsy syndromes

Gene: SETD1A

Green List (high evidence)

SETD1A (SET domain containing 1A)
EnsemblGeneIds (GRCh38): ENSG00000099381
EnsemblGeneIds (GRCh37): ENSG00000099381
OMIM: 611052, Gene2Phenotype
SETD1A is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for intellectual disability. At least 4 variants reported, 3 de novo and 1 segregating in a family.
Created: 31 Mar 2020, 4:40 p.m. | Last Modified: 31 Mar 2020, 4:54 p.m.
Panel Version: 2.29

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data.
Sources: Expert list
Created: 25 Jan 2020, 3:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy
OMIM
611052
Clinvar variants
Variants in SETD1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: setd1a has been classified as Green List (High Evidence).

25 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SETD1A was added gene: SETD1A was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD1A were set to 31197650 Phenotypes for gene: SETD1A were set to Epilepsy Review for gene: SETD1A was set to GREEN gene: SETD1A was marked as current diagnostic