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Genetic epilepsy syndromes

Gene: SETD1B

Green List (high evidence)

SETD1B (SET domain containing 1B)
EnsemblGeneIds (GRCh38): ENSG00000139718
EnsemblGeneIds (GRCh37): ENSG00000139718
OMIM: 611055, Gene2Phenotype
SETD1B is in 5 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Insufficient evidence, single case report PMID 29322246 where two de novo variants were identified in two patients with features that included epilepsy.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability, epilepsy

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for SETD1B associated intellectual disability, epilepsy and autism. At least 3 variants reported in at least 3 unrelated cases who displayed epilepsy (PMID29322246; 31440728 31685013). Strucutral variants have also been reported that encompass SETD1B (PMID 20648245; 27106595; 25428890; 22369279).
Created: 31 Mar 2020, 5:19 p.m. | Last Modified: 31 Mar 2020, 5:33 p.m.
Panel Version: 2.34
Comment on mode of inheritance: Mode of inheritance obtained from Gen2Phen
Created: 31 Mar 2020, 5:17 p.m. | Last Modified: 31 Mar 2020, 5:17 p.m.
Panel Version: 2.31
Comment when marking as ready: Based on reviewers' comments.
Created: 11 Dec 2018, 1:35 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Another individual with a de novo variant in this gene and epilepsy reported in 31440728 bringing the total to three, and possibly two more in 31685013.
Created: 25 Jan 2020, 4:12 a.m. | Last Modified: 25 Jan 2020, 4:12 a.m.
Panel Version: 2.0
Seizures are part of the phenotype; however, only two unrelated individuals described.
Created: 21 Aug 2018, 9:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy with myoclonic absences; intellectual disability

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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy with myoclonic absences
  • intellectual disability
OMIM
611055
Clinvar variants
Variants in SETD1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Mar 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SETD1B were set to 29322246; 31440728; 31685013

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: setd1b has been classified as Green List (High Evidence).

31 Mar 2020, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SETD1B were changed from to Epilepsy with myoclonic absences; intellectual disability

31 Mar 2020, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SETD1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Mar 2020, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SETD1B were set to

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SETD1B.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SETD1B.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: setd1b has been classified as Amber List (Moderate Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to SETD1B. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SETD1B was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

SETD1B was created by Sarah Leigh