Genomics England
GMS Panels
Panels
Genes and Entities

RBBP8

RB binding protein 8, endonuclease
OMIM: 604124
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RBBP8-related microcephaly and intellectual disability, OMIM:251255
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 2, OMIM:606744, Seckel syndrome 2, MONDO:0011715
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
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
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCPH, primary microcephaly, Seckel syndrome 2, 606744 (‌includes microcephaly), MICROCEPHALIC PRIMORDIAL DWARFISM 2, Jawad syndrome (microcephaly with mental retardation and digital anomalies), 251255, Jawad syndrome, 251255 (‌includes congenital microcephaly)