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Severe Paediatric Disorders

Gene: RAI1

Green List (high evidence)

RAI1 (retinoic acid induced 1)
EnsemblGeneIds (GRCh38): ENSG00000108557
EnsemblGeneIds (GRCh37): ENSG00000108557
OMIM: 607642, Gene2Phenotype
RAI1 is in 6 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: RAI1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Smith-Magenis syndrome, 182290 (3); Mode of inheritance: Autosomal dominant, Isolated cases
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Smith-Magenis syndrome, 182290
OMIM
607642
Clinvar variants
Variants in RAI1
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 RAI1 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 RAI1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status un