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Intellectual disability

Gene: SPTBN2

Green List (high evidence)

SPTBN2 (spectrin beta, non-erythrocytic 2)
EnsemblGeneIds (GRCh38): ENSG00000173898
EnsemblGeneIds (GRCh37): ENSG00000173898
OMIM: 604985, Gene2Phenotype
SPTBN2 is in 12 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases, agree with biallelic MOI for relevance in ID. Phenotype in biallelic cases appropriate for this panel, in addition to ataxia (already green)
Created: 14 Nov 2017, 9:49 a.m.

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

3 homozygous variants reported, each in a single family with autosomal recessive SCAR14 (MIM:605361) presenting with developmental delay (PMID:23236289, 23838597 and 28636205). Although both monoallelic and biallelic inheritance is seen for ataxia (MIM:600224 and MIM:615386), axatia presenting alongside ID/developmental delay seems restricted to biallelic cases. Comment on mode of inheritance: Recorded a biallelic MOI because ataxia presenting alongside ID/DD seems restricted to biallelic cases.
Created: 29 Nov 2017, 11:19 a.m.
PMID:28636205 (2017) report 9 members of a consanguineous Pakistani family with primary presentation of ID, DD, ataxia, behavioral and speech problems, and tremor. They identified a homozygous splicing variant c.6375-1G>C in SPTBN2.
Created: 21 Sep 2017, 10:40 a.m.
Elsayed et al (2014, PMID:23838597) describe a homozygous 5-bp deletion in SPTBN2 in a consanguineous family with infantile ataxia, developmental delay and pyramidal signs.
Created: 21 Sep 2017, 10:39 a.m.
In 3 patients from a consanguineous Pakistani family with spinocerebellar ataxia-14 (MIM:615386), Lise et al. (2012, PMID:23236289) identified a homozygous truncating variant in the SPTBN2 gene (C627X). Phenotypes of affected individuals included delayed psychomotor development, severe ataxia and ID.
Created: 21 Sep 2017, 10:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autosomal recessive spinocerebellar ataxia-14 (MIM:615386) and developmental delay

Publications

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_omim_20150205_movement . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:33 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : omim_20150205_movement; Nijmegen_ID_candidates; neuro_20160418_strict; NA. 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, 1:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

  • omim.org

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: reformated
Created: 19 Dec 2017, 5:04 p.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 2:08 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 14
  • MIM:615386
  • Developmental delay
OMIM
604985
Clinvar variants
Variants in SPTBN2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

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.

19 Dec 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SPTBN2 were set to Spinocerebellar ataxia, autosomal recessive 14; MIM:615386; Developmental delay

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to SPTBN2. Panel: Intellectual disability Model of inheritance for gene SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene SPTBN2 was set to ['23236289', ' 23838597', ' 28636205']

21 Sep 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SPTBN2 were set to 23236289; 23838597; 28636205

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

SPTBN2 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

SPTBN2 was created by BRIDGE