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Intellectual disability syndromic and non-syndromic

Gene: RBPJ

Red List (low 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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One of the original families described as having no intellectual disability and the other with mild, so I don't think ID is a core feature of the phenotype.
Created: 9 Dec 2019, 6:55 p.m. | Last Modified: 9 Dec 2019, 6:55 p.m.
Panel Version: 0.1070

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adams-Oliver syndrome 3, MIM#614814

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Adams-Oliver syndrome 3, MIM#614814
OMIM
147183
Clinvar variants
Variants in RBPJ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbpj has been classified as Red List (Low Evidence).

9 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RBPJ were changed from to Adams-Oliver syndrome 3, MIM#614814

9 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RBPJ were set to

9 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbpj has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RBPJ was added gene: RBPJ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RBPJ was set to Unknown