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  3. TBL1XR1
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Clefting

Gene: TBL1XR1

Amber List (moderate evidence)
TBL1XR1 (transducin beta like 1 X-linked receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000177565
EnsemblGeneIds (GRCh37): ENSG00000177565
OMIM: 608628, Gene2Phenotype
TBL1XR1 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: Although three patients are reported with clefting in total, this represents a small fraction of total cases with monoallelic TBL1XR1 variants. Hence, this gene should be rated amber.
Created: 14 Aug 2023, 5:01 p.m. | Last Modified: 14 Aug 2023, 5:01 p.m.
Panel Version: 4.93
PMID:28687524 - A seven year-old boy reported with severe developmental delays, hypotonia and dysmorphic features and identified with a de novo heterozygous variant (p.Tyr446Cys) in TBL1XR1 gene had submucous cleft palate.

DECIPHER database - One of 34 patients with heterozygous sequence variants in TBL1XR1 gene in DECIPHER database had orofacial cleft and another patient had unilateral cleft lip and palate.
Sources: Literature
Created: 14 Aug 2023, 4:59 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pierpont syndrome, OMIM:602342

Publications

Created: 14 Aug 2023, 4:59 p.m.

Panel version: 4.92

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pierpont syndrome, OMIM:602342
OMIM
608628
Clinvar variants
Variants in TBL1XR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: tbl1xr1 has been classified as Amber List (Moderate Evidence).

14 Aug 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TBL1XR1 was added gene: TBL1XR1 was added to Clefting. Sources: Literature Mode of inheritance for gene: TBL1XR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBL1XR1 were set to 28687524; 37010288 Phenotypes for gene: TBL1XR1 were set to Pierpont syndrome, OMIM:602342 Review for gene: TBL1XR1 was set to AMBER