IUGR and IGF abnormalities

Gene: RBBP8

Green List (high evidence)

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

2 reviews

Peter Clayton (University of Manchester)

Green List (high evidence)

Philip Murray (University of Manchester)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • seckel syndrome but with proportionate head/height impairment, cafe au lair macules
OMIM
604124
Clinvar variants
Variants in RBBP8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Oct 2015, Gel status: 0

Added New Source

Philip Murray (University of Manchester)

RBBP8 was added to IUGR and IGF abnormalitiespanel. Sources: Literature

25 Oct 2015, Gel status: 0

Created

Philip Murray (University of Manchester)

RBBP8 was created by PhilMurray