RBBP8

RB binding protein 8, endonuclease
OMIM: 604124, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RBBP8 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

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 1.48

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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 1.74

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 1.3

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 2.1098

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