Limb disordersGene: RBPJ
PMID: 29924900 - Meester et al 2018 - analyzed a cohort comprised of 194 distinct Adams–Oliver syndrome/scalp aplasia cutis congenita (ACC)/transverse terminal limb defects (TTLD) familial or sporadic cases. Most analysed using targeted next‐generation resequencing in 6 established AOS genes including RBPJ. They report 4 families in which likely heterozygous pathogenic/pathogenic variants were found in RBPJ. All were inherited in an autosomal dominant manner. 3 are novel mutations, 1 has been reported previously in another family. All 4 families showed transverse terminal limb defects, while 3 out of 4 also were positive for scalp aplasia cutis congenita. One family also displayed microcephaly and hip dislocation
Created: 16 Jul 2019, 3:05 p.m. | Last Modified: 16 Jul 2019, 3:05 p.m.
Panel Version: 1.7
The Adams–Oliver syndrome (AOS) is defined as aplasia cutis congenita (ACC) with transverse terminal limb defects (TTLD). Six causative genes have been identified: ARHGAP31, DOCK6, EOGT, RBPJ, NOTCH1, and DLL4. In PMID: 28160419 (2017) 385 previously described individuals (139 non-familial and 246 familial probands and family members) and clinical data on 13 previously unreported individuals with AOS was assessed and it was found that in addition to ACC and TTLD, the most commonly associated anomalies, there were other phenotypes specific to the causative gene.
Created: 2 Nov 2017, 12:10 p.m.
Comment on list classification: Changed from Red to Green based on expert review and current literature updates that refine the diagnostic phenotype.
Created: 2 Nov 2017, 12:04 p.m.
Comment on publications: added 2017 publication (PMID: 28160419) to support more cases where RBPJ is shown to cause Adams-Oliver syndrome 3 in 6 cases.
Created: 2 Nov 2017, 12:02 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least two variants reported
Created: 29 Jul 2016, 1:59 p.m.
Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adams-Oliver syndrome 3 614814
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: RBPJ were set to 22883147; 28160419
Ana Beleza: Tier 2
Expert Review Green was added to RBPJ. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to RBPJ. Panel: Limb disorders Expert list was added to RBPJ. Panel: Limb disorders Model of inheritance for gene RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene RBPJ was set to ['22883147', '28160419']
London South East RGC GSTT was added to RBPJ. Panel: Limb disorders
RBPJ was added to Limb disorders panel. Sources: Viapath
RBPJ was created by Ellen McDonagh