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Intellectual disability

Gene: RBPJ

Amber List (moderate evidence)

RBPJ (recombination signal binding protein for immunoglobulin kappa J region)
EnsemblGeneIds (GRCh38): ENSG00000168214
EnsemblGeneIds (GRCh37): ENSG00000168214
OMIM: 147183, Gene2Phenotype
RBPJ is in 7 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as amber as although ID has been described, it is not a major feature and patients would be recruited under different disease categories
Created: 5 Jan 2018, 2:35 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Comment on phenotypes: corrected formating
Created: 8 Jan 2018, 5:25 p.m.
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. It was found that Intellectual deficits of varying degree were reported in 15% of probands (21 non-familial, 12 familial) there is currently not enough evdence in the literature to support clear RBPJ and ID phenotype association, to date only two cases have been reported with ID, due to microcephaly or some underlying brain anomaly.
Created: 18 Dec 2017, 3:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Adams-Oliver syndrome 3,614814



Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Expert Review Amber
  • Adams-Oliver syndrome 3, 614814
Clinvar variants
Variants in RBPJ
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

8 Jan 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RBPJ were set to Adams-Oliver syndrome 3, 614814

5 Jan 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RBPJ was added to Intellectual disability panel. Sources: Expert Review Amber

5 Jan 2018, Gel status: 2


Ellen McDonagh (Genomics England Curator)

RBPJ was created by Ellen McDonagh