Mandibulofacial Acrofacial dysostosis
Gene: RBM10
The classic features of TARP syndrome are talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava. Not all patients have all classic features. Some patients have the additional features of central nervous system dysfunction, renal abnormalities, variable cardiac anomalies including hypertrophic obstructive cardiomyopathy, and variable distal limb defects including syndactyly. Most patients die in late prenatal or early postnatal stages.
15 unrelated families reported.Created: 8 Aug 2021, 7:15 a.m. | Last Modified: 8 Aug 2021, 7:15 a.m.
Panel Version: 0.81
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
TARP syndrome, MIM# 311900
Publications
Gene: rbm10 has been classified as Green List (High Evidence).
Phenotypes for gene: RBM10 were changed from to TARP syndrome, MIM# 311900
Publications for gene: RBM10 were set to
Mode of inheritance for gene: RBM10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gene: RBM10 was added gene: RBM10 was added to Mandibulofacial Acrofacial dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RBM10 was set to Unknown