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Severe Paediatric Disorders

Gene: RB1

Amber List (moderate evidence)

RB1 (RB transcriptional corepressor 1)
EnsemblGeneIds (GRCh38): ENSG00000139687
EnsemblGeneIds (GRCh37): ENSG00000139687
OMIM: 614041, Gene2Phenotype
RB1 is in 11 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: RB1; Recommended initial gene rating: I don't know; Phenotypes: {Autism, susceptibility to, X-linked 4}, 300830 (3); Mode of inheritance: X-linked recessive
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • {Autism, susceptibility to, X-linked 4}, 300830
OMIM
614041
Clinvar variants
Variants in RB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene RB1 were updated from to 30847515

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes {Autism, susceptibility to, X-linked 4}, 300830 for gene: RB1

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes {Autism, susceptibility to, X-linked 4}, 300830 for gene: RB1

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes {Autism, susceptibility to, X-linked 4}, 300830 for gene: RB1

19 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes {Autism, susceptibility to, X-linked 4}, 300830 for gene: RB1

19 Feb 2020, Gel status: 2

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene RB1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes {Autism, susceptibility to, X-linked 4}, 300830 for gene: RB1

14 Feb 2020, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to RB1.

14 Feb 2020, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to RB1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: RB1 was added gene: RB1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: RB1 was set to