RBBP8

RB binding protein 8, endonuclease
OMIM: 604124, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green RBBP8 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Jawad syndrome, MIM#251255
  • Seckel syndrome 2, MIM#606744

Green RBBP8 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Jawad syndrome, MIM# 251255
  • Seckel syndrome 2, MIM# 606744

Red RBBP8 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.540

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Jawad syndrome, MIM#251255
  • Seckel syndrome 2, MIM#606744

Green RBBP8 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Jawad syndrome, MIM#251255
  • Seckel syndrome 2, MIM#606744

Green RBBP8 in Microcephalic Primordial Dwarfism and Slender bone dysplasias

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green RBBP8 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Seckel syndrome 2, 606744 (3)

Amber RBBP8 in Growth failure


Version 1.76

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Seckel syndrome 2, MIM# 606744

Green RBBP8 in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Jawad syndrome, MIM# 251255
  • Seckel syndrome 2, MONDO:0011715
  • Seckel syndrome 2, OMIM:606744

Green RBBP8 in Prepair 1000+


Level 2: Screening
Version 1.1586

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Jawad syndrome MIM#251255
  • Seckel syndrome 2 MIM#606744

Green RBBP8 in Prepair 500+


Level 2: Screening
Version 1.5

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Seckel syndrome 2, 606744 (3)