RBBP8

RB binding protein 8, endonuclease
OMIM: 604124
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 2, OMIM:606744, Seckel syndrome 2, MONDO:0011715
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
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
R-numbers: R88
Signed-off version 3.1
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)