Clefting
Gene: TBL1XR1
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: LiteratureCreated: 14 Aug 2023, 4:59 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pierpont syndrome, OMIM:602342
Publications
Gene: tbl1xr1 has been classified as Amber List (Moderate Evidence).
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