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Intellectual disability

Gene: SCN1B

Amber List (moderate evidence)
SCN1B (sodium voltage-gated channel beta subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000105711
EnsemblGeneIds (GRCh37): ENSG00000105711
OMIM: 600235, Gene2Phenotype
SCN1B is in 8 panels

8 reviews

Sarah Leigh (Genomics England Curator)

After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510
Created: 9 Mar 2022, 3:40 p.m.
Last Modified: 9 Mar 2022, 3:40 p.m.
Panel version: 3.1510

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Biallelic variants associated with developmental epileptic encephalopathy characterised by early onset epileptic seizures followed by cognitive decline. At least 5 unrelated families in literature (PMIDs: 19710327; 23148524; 28218389).

Rating Amber as seizures are the prominent feature of the disease presentation, to which cognitive impairment is secondary. Cases would be detected via the epilepsy route (SCN1B is already Green on Genetic epilepsy syndromes panel).
Created: 4 Dec 2020, 5:33 p.m. | Last Modified: 4 Dec 2020, 5:33 p.m.
Panel Version: 3.607
Created: 4 Dec 2020, 5:33 p.m.
Last Modified: 4 Dec 2020, 5:33 p.m.
Panel version: 3.607

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Note heterozygous variants linked to cardiac phenotypes and to GEFS+, and agreed these gene-disease associations are Red for this panel. Bi-allelic variants cause EE/ID.
Created: 16 Feb 2020, 6:37 a.m. | Last Modified: 16 Feb 2020, 6:37 a.m.
Panel Version: 3.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 52, MIM#617350

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

Created: 16 Feb 2020, 6:37 a.m.
Last Modified: 16 Feb 2020, 6:37 a.m.
Panel version: 3.3

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

No evidence for intellectual disability phenotype, gene is more involved in epilepsies
Created: 18 Dec 2017, 3:39 p.m.
Created: 18 Dec 2017, 3:39 p.m.

Panel version: Imported from Intellectual disability update Dec 2017 panel version 0.40

Caroline Wright (Sanger)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1

Publications

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_omim_20150205_epilepsies . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 8:20 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; omim_20150205_epilepsies; GEL_ID_red_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 1:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 2 Aug 2017, 10:21 p.m.

Panel version: 1.354

Lu Raymond (university of cambridge )

I don't know

Created: 23 Feb 2016, 10:18 a.m.

Panel version: 0.306

Richard Scott (Genomics England Curator)

Comment on list classification: Seizure gene rather than primarily ID
Created: 8 Feb 2016, 12:47 a.m.
Created: 8 Feb 2016, 12:47 a.m.

Panel version: 0.233

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Developmental and epileptic encephalopathy 52, OMIM:617350
  • Developmental and epileptic encephalopathy, 52, MONDO:0033361
OMIM
600235
Clinvar variants
Variants in SCN1B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 2

Added New Source

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to SCN1B.

4 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: scn1b has been classified as Amber List (Moderate Evidence).

4 Dec 2020, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SCN1B were changed from EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 to Developmental and epileptic encephalopathy 52, OMIM:617350; Developmental and epileptic encephalopathy, 52, MONDO:0033361

4 Dec 2020, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SCN1B were set to 18464934

4 Dec 2020, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: SCN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SCN1B was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN1B was added to Intellectual disabilitypanel. Sources: Expert Review Amber