RBBP8

RB binding protein 8, endonuclease
OMIM: 604124, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green RBBP8 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.30

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • seckel syndrome but with proportionate head/height impairment, cafe au lair macules

Red RBBP8 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.4
Signed off v.2.2 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Literature
Phenotypes
  • Seckel syndrome 2 606744

Green RBBP8 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.6
Signed off v.2.2 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
  • Expert list
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)

Red RBBP8 in Growth failure in early childhood


Version 1.8
Signed off v.1.4 on 3 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • seckel syndrome but with proportionate head/height impairment, cafe au lair macules

Green RBBP8 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.73
Signed off v.3.2 on 13 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Literature
    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 RBBP8 in Severe Paediatric Disorders


    Version 1.6

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pancreatic carcinoma, somatic
    • Jawad syndrome, 251255
    • Seckel syndrome 2, 606744