Cerebral vascular malformations
Gene: RBBP8

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

1 review

Alice Gardham (Genomics England)

I don't know

Comment when marking as ready: Mutations only identified in two families with Seckel syndrome
Created: 15 Dec 2016, 9:10 a.m.

Moyamoya and intracerebral aneurysms reported in Seckel syndrome
Created: 14 Dec 2016, 5:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 2 606744

Created: 14 Dec 2016, 5:18 p.m.

Panel version: 0.55

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Yorkshire and North East GLH
NHS GMS
Expert Review Red
Literature

Phenotypes

Seckel syndrome 2 606744

OMIM

604124

Clinvar variants

Variants in RBBP8

Penetrance

Complete

Publications

21998596

Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to RBBP8.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RBBP8.

19 Dec 2016, Gel status: 1