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Genetic epilepsy syndromes

Gene: TBL1XR1

Green List (high evidence)

TBL1XR1 (transducin beta like 1 X-linked receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000177565
EnsemblGeneIds (GRCh37): ENSG00000177565
OMIM: 608628, Gene2Phenotype
TBL1XR1 is in 6 panels

7 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD Pierpont syndrome and AD mental retardation. Both can present with seizures (panel app). Pierpont syndrome - 7 unrelated patients all have the same variant Y446C - no specific mention of epilepsy in these on OMIM says seizures are seen in some patients. AD-MR on OMIM it says seizures - 1 patient. On panel app it links to a 2018 paper where one patient had seizures and anpther patient didn't.
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
Mental retardation autosomal dominant 41, 616944; Pierpont syndrome, 602342

Publications

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: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Pierpont and mental retardation, both of which can present with seizures. Seizures reported in at least 3 patients (PMID:25102098, PMID:30365874 and PMID:9450851-original patient). Burkitt Wright, 2011 (PMID:21834056) also reports that "Seizures, in particular absence seizures, have been reported in several [Pierpont] patients. While they are clearly not universal, it currently appears that epilepsy may be sufficiently more common in children with Pierpont syndrome to be considered a feature of the condition". Therefore reasonable to include TBL1XR1 on the diagnostic panel.
Created: 8 Nov 2018, 11 a.m.
Previously reported individuals reported by Burkitt Wright, 2011 (PMID:21834056) include the initial patient reported by Pierpont et al 1998 (PMID:9450851) who had grand mal seizures from age 5.
Created: 8 Nov 2018, 10:05 a.m.
PMID:30365874 (Lemattre et al 2018) report a Caucasian boy (Patient 1) with a seizure disorder with both myoclonic and focal seizures that began age 10. Her harboured a de novo heterozygous missense variant (NM_024665.4:c.974G>A, p.Cys325Tyr) in TBL1XR1. Their second unrelated patient also had a missense TBL1XR1 variant but never had seizures.
Created: 8 Nov 2018, 10:05 a.m.
In a 5-year-old Japanese girl with autosomal dominant mental retardation-41 (MRD41; 616944), Saitsu et al. (2014, PMID:25102098) identified a de novo heterozygous transition (c.209G-A, NM_024665.4) in the TBL1XR1 gene (G70D). The patient developed infantile spasms at age 5 months.
Created: 8 Nov 2018, 10:04 a.m.
PMID:29777588 (Zahlula et al 2018) summarises phenotypes of patients with TBL1XR1 variants, including seizures.
Created: 8 Nov 2018, 10:04 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are reported in a proportion of patients with Pierpoint syndrome, and also in some patients with other TBL1XR1 variants causing ID.
Created: 22 Aug 2018, 5:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pierpont syndrome, MIM#602342; Mental retardation, autosomal dominant 41, MIM#616944

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

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review
Phenotypes
  • Mental retardation, autosomal dominant 41, 616944
  • Pierpont syndrome, 602342
OMIM
608628
Clinvar variants
Variants in TBL1XR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TBL1XR1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TBL1XR1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are reported in a pro

8 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tbl1xr1 has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tbl1xr1 has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TBL1XR1 were set to

8 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: TBL1XR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TBL1XR1 were changed from to Mental retardation, autosomal dominant 41, 616944; Pierpont syndrome, 602342

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to TBL1XR1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to TBL1XR1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TBL1XR1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert Review

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

TBL1XR1 was created by Sarah Leigh