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Severe Paediatric Disorders

Gene: CRB1

Green List (high evidence)

CRB1 (crumbs 1, cell polarity complex component)
EnsemblGeneIds (GRCh38): ENSG00000134376
EnsemblGeneIds (GRCh37): ENSG00000134376
OMIM: 604210, Gene2Phenotype
CRB1 is in 13 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: CRB1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Leber congenital amaurosis 8, 613835 (3) | Pigmented paravenous chorioretinal atrophy, 172870 (3) | Retinitis pigmentosa-12, 600105 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 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
  • Leber congenital amaurosis 8, 613835
  • Pigmented paravenous chorioretinal atrophy, 172870
  • Retinitis pigmentosa-12, 600105
OMIM
604210
Clinvar variants
Variants in CRB1
Penetrance
None
Publications
Panels with this gene

History Fi