Clefting

Gene: TRRAP

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.

Created: 2 May 2024, noon | Last Modified: 2 May 2024, noon

Panel Version: 5.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

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: Literature

Created: 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

• 30827496
• 37010288