Cerebral vascular malformations

Gene: RBBP8

Red List (low evidence)

RBBP8 (RB binding protein 8, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000101773
EnsemblGeneIds (GRCh37): ENSG00000101773
OMIM: 604124, Gene2Phenotype
RBBP8 is in 5 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

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
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

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

15 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

15 Dec 2016, Gel status: 0

Set publications

Alice Gardham (Genomics England)

Publications for RBBP8 were set to 21998596

14 Dec 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

RBBP8 was added to Cerebrovascular disorderspanel. Sources: Literature

14 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

RBBP8 was created by agardham