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  2. Early onset or syndromic epilepsy
  3. SETD1A
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Early onset or syndromic epilepsy

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:54 p.m. | Last Modified: 20 Oct 2020, 3:54 p.m.
Panel Version: 2.194
Created: 20 Oct 2020, 3:54 p.m.
Last Modified: 20 Oct 2020, 3:54 p.m.
Panel version: 2.194

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.
Panel Version: 2.491
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
Created: 31 Mar 2020, 4:40 p.m.
Last Modified: 31 Mar 2020, 4:54 p.m.
Panel version: 2.491

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

Created: 25 Jan 2020, 3:49 a.m.

Panel version: 2.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, early-onset, with or without developmental delay, 618832
OMIM
611052
Clinvar variants
Variants in SETD1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: SETD1A.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to SETD1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Nov 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SETD1A were changed from Epilepsy to Epilepsy, early-onset, with or without developmental delay, 618832

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: setd1a has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: SETD1A.

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