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| Clefting v4.93 | TBL1XR1 | Achchuthan Shanmugasundram Classified gene: TBL1XR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.93 | TBL1XR1 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.93 | TBL1XR1 | Achchuthan Shanmugasundram Gene: tbl1xr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.92 | TBL1XR1 |
Achchuthan Shanmugasundram 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 Added comment: 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 |
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