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Severe Paediatric Disorders

Gene: ARMC4

Green List (high evidence)

ARMC4 (armadillo repeat containing 4)
EnsemblGeneIds (GRCh38): ENSG00000169126
EnsemblGeneIds (GRCh37): ENSG00000169126
OMIM: 615408, Gene2Phenotype
ARMC4 is in 8 panels

2 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for ARMC4 is ODAD2
Created: 24 Feb 2021, 5:03 p.m. | Last Modified: 24 Feb 2021, 5:03 p.m.
Panel Version: 1.62

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: ARMC4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Ciliary dyskinesia, primary, 23, 615451 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 23, 615451
Tags
new-gene-name
OMIM
615408
Clinvar variants
Variants in ARMC4
Penetrance
None
Publications
Panels with this gene