Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

Gene: OFD1

Green List (high evidence)

OFD1 (OFD1, centriole and centriolar satellite protein)
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 29 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: OFD1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Joubert syndrome 10, 300804 (3) | Orofaciodigital syndrome I, 311200 (3) | ?Retinitis pigmentosa 23, 300424 (3) | Simpson-Golabi-Behmel syndrome, type 2, 300209 (3); Mode of inheritance: X-linked recessive | X-linked dominant | X-linked recessive | X-linked recessive
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 10, 300804
  • ?Retinitis pigmentosa 23, 300424
  • Simpson-Golabi-Behmel syndrome, type 2, 300209
  • Orofaciodigital syndrome I, 311200
OMIM
300170
Clinvar variants
Variants in OFD1
Penetrance
None
Publications
Panels with this gene