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Severe Paediatric Disorders

Gene: RBBP8

Green List (high evidence)

RBBP8 (RB binding protein 8, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000101773
EnsemblGeneIds (GRCh37): ENSG00000101773
OMIM: 604124, Gene2Phenotype
RBBP8 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: RBBP8; Recommended initial gene rating: Green List (high evidence); Phenotypes: Jawad syndrome, 251255 (3) | Pancreatic carcinoma, somatic (3) | Seckel syndrome 2, 606744 (3); Mode of inheritance: Autosomal recessive | ND | Autosomal recessive
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
604124
Clinvar variants
Variants in RBBP8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene RBBP8 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene RBBP8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pancreatic carcinoma, somatic; Jawad syndrome, 251255; Seckel syndrome 2, 606744 for gene: RBBP8

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pancreatic carcinoma, somatic; Jawad syndrome, 251255; Seckel syndrome 2, 606744 for gene: RBBP8

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pancreatic carcinoma, somatic; Jawad syndrome, 251255; Seckel syndrome 2, 606744 for gene: RBBP8

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Jawad syndrome, 251255; Pancreatic carcinoma, somatic; Seckel syndrome 2, 606744 for gene: RBBP8

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to RBBP8.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to RBBP8. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: RBBP8 was added gene: RBBP8 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: RBBP8 was set to