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Mendeliome

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 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England)

I don't know

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 added with amber rating to 'clefting disorders' panel.

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.
Created: 14 Aug 2023, 5:04 p.m. | Last Modified: 14 Aug 2023, 5:04 p.m.
Panel Version: 1.1111

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pierpont syndrome, OMIM:602342

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease associations.

The p.Tyr446Cys is a recurrent de novo variant in Pierpont syndrome.
Created: 26 Mar 2022, 1:52 a.m. | Last Modified: 26 Mar 2022, 1:52 a.m.
Panel Version: 0.11952

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 41, MIM# 616944
  • Pierpont syndrome, MIM# 602342
OMIM
608628
Clinvar variants
Variants in TBL1XR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBL1XR1 were set to

26 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TBL1XR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBL1XR1 was added gene: TBL1XR1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBL1XR1 was set to Unknown