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Clefting
Gene: RBPJ

RBPJ (recombination signal binding protein for immunoglobulin kappa J region)
EnsemblGeneIds (GRCh38): ENSG00000168214
EnsemblGeneIds (GRCh37): ENSG00000168214
OMIM: 147183, Gene2Phenotype
RBPJ is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: Added publications to support phenotype
Created: 2 Nov 2017, 12:01 p.m.

Although facial clefting has not frequently been reported with AOS, cleft lip and/or palate may be a part of AOS in a subset of affected individuals, depending upon the specific genetic etiology (PMID:28160419)
Created: 2 Nov 2017, 12:01 p.m.

Created: 2 Nov 2017, 12:01 p.m.

Panel version: 1.8

Helen Brittain (Genomics England Curator)

I don't know

Two unrelated cases to date
Created: 26 May 2017, 7:40 a.m.

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

Phenotypes
ADAMS-OLIVER SYNDROME

Created: 26 May 2017, 7:40 a.m.

Panel version: 0.193

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber

Phenotypes

ADAMS-OLIVER SYNDROME

OMIM

147183

Clinvar variants

Variants in RBPJ

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

2 Nov 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for RBPJ were set to 22883147;28160419

31 May 2017, Gel status: 2

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RBPJ was added to Cleftingpanel. Sources: Expert Review Amber

26 May 2017, Gel status: 0

Created