Intellectual disability
Gene: RBBP8

RBBP8 (RB binding protein 8, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000101773
EnsemblGeneIds (GRCh37): ENSG00000101773
OMIM: 604124, Gene2Phenotype
RBBP8 is in 7 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changed from Amber to Green. New Amber gene added by external expert reviewer. On further investigation in the literature there is enough evidence to support gene-disease association and rating of this gene to Green.
Created: 27 Jul 2018, 3:15 p.m.

After clinical review, it was highlighted that In OMIM there are 2 unrelated cases of Jawad syndrome (microcephaly, ID, digital anomalies) with biallelic variants in RBBP8 and there is sufficient phenotypic overlap with Seckel syndrome 2 providing sufficient evidence, at present, with three unrelated cases involving biallelic variants and evidence of ID to support a green rating.
Created: 27 Jul 2018, 3:13 p.m.

Comment on list classification: New Amber gene added by expert reviewer. Past onto clinical team for further review based on additional variant listed in ClinVar, that we could use as further evidence and consider upgrading this gene to green
Created: 26 Jul 2018, 11:12 a.m.

Comment on phenotypes: added phenotypes from papers PMID:11781686 and PMID:8434622- both disorders are caused by mutation in the RBBP8 gene.
Created: 26 Jul 2018, 10:45 a.m.

Comment on publications: Seckel syndrome PMID: 24389050 and PMID: 21998596 reports two variants in two unrelated families, there is a third pathogenic variant listed in ClinVar for Seckel syndrome submitted by Genetic Services Laboratory, University of Chicago
Created: 26 Jul 2018, 10:38 a.m.

Created: 26 Jul 2018, 10:38 a.m.

Panel version: 2.247

Zornitza Stark (Australian Genomics)

I don't know

Individuals from 3 families reported in the literature with bi-allelic variants in this gene: clinical diagnosis was Jawad syndrome in one, and Seckel syndrome in 2. ID is a reported feature. Consider inclusion as Amber if not Green.
Created: 22 Jun 2018, 2:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jawad syndrome; Seckel syndrome; 24389050

Publications

18071751, 21998596,

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jun 2018, 2:26 p.m.

Panel version: 2.109

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green

Phenotypes

Jawad syndrome, 251255
Microcephaly with mental retardation and digital anomalies
Seckel syndrome, 24389050
growth retardation, microcephaly with mental retardation, and a characteristic facial appearance

OMIM

604124

Clinvar variants

Variants in RBBP8

Penetrance

None

Publications

Panels with this gene