1. Genes and Genomic Entities
  2. RBBP8

RBBP8

RB binding protein 8, endonuclease
OMIM: 604124, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green RBBP8 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69

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 3.16
Latest signed off version: v3.0 (22 Mar 2023)

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 4.88
Latest signed off version: v4.0 (22 Mar 2023)

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)
Green RBBP8 in Fetal anomalies


Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Seckel syndrome 2, OMIM:606744
  • Seckel syndrome 2, MONDO:0011715
Green RBBP8 in DDG2P


Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RBBP8-related microcephaly and intellectual disability, OMIM:251255
    Red RBBP8 in Growth failure in early childhood


    Version 3.95
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 1.184

    		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