Clefting
Gene: TRRAP
Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be promoted to green rating at the next major update.Created: 22 Jun 2023, 10:43 a.m. | Last Modified: 22 Jun 2023, 10:43 a.m.
Panel Version: 4.52
PMID:30827496 - Out of 13 unrelated individuals with a complex syndromic neurodevelopmental disorder comprising global developmental delay and intellectual disability and identified with monoallelic variants in TRRAP gene, five had cleft lip and palate.
DECIPHER database - Out of 18 patients with heterozygous sequence variants in TRRAP gene, two were reported with cleft lip and palate.
OMIM has also recorded cleft lip and palate as clinical presentations of the syndrome associated with dominant variants in TRRAP (MIM #618454).
Sources: LiteratureCreated: 22 Jun 2023, 10:42 a.m. | Last Modified: 22 Jun 2023, 10:45 a.m.
Panel Version: 4.52
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental delay with or without dysmorphic facies and autism, OMIM:618454
Publications
Gene: trrap has been classified as Amber List (Moderate Evidence).
Gene: trrap has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: TRRAP.
gene: TRRAP was added gene: TRRAP was added to Clefting. Sources: Literature Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRRAP were set to 30827496; 37010288 Phenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism, OMIM:618454 Review for gene: TRRAP was set to GREEN