Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: RBBP8

Green List (high evidence)

RBBP8 (RB binding protein 8, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000101773
EnsemblGeneIds (GRCh37): ENSG00000101773
OMIM: 604124, Gene2Phenotype
RBBP8 is in 6 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.

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
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

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to RBBP8.

27 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: rbbp8 has been classified as Green List (High Evidence).

26 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: rbbp8 has been classified as Amber List (Moderate Evidence).

26 Jul 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: RBBP8 were set to 18071751; 21998596; 24389050; 11781686

26 Jul 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RBBP8 were set to Jawad syndrome, 251255; Microcephaly with mental retardation and digital anomalies; Seckel syndrome, 24389050; growth retardation, microcephaly with mental retardation, and a characteristic facial appearance

26 Jul 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: RBBP8 were set to 18071751; 21998596; 24389050

26 Jul 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RBBP8 were set to Jawad syndrome, 251255; Seckel syndrome, 24389050

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

RBBP8 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

RBBP8 was created by Zornitza Stark