Primary ciliary disorders
Gene: ARMC4EnsemblGeneIds (GRCh38): ENSG00000169126
EnsemblGeneIds (GRCh37): ENSG00000169126
OMIM: 615408, Gene2Phenotype
ARMC4 is in 7 panels
4 reviews
Catherine Snow (Genomics England)
Added new-gene-name tag, new approved HGNC gene symbol for ARMC4 is ODAD2Created: 24 Feb 2021, 5:01 p.m. | Last Modified: 24 Feb 2021, 5:01 p.m.
Panel Version: 1.29
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 23, 615451
Variants in this GENE are reported as part of current diagnostic practice
Caroline Wright (Genomics England Curator)
Comment on list classification: 2 green list ratings from expert reviewers and current diagnosticCreated: 10 May 2016, 8:52 a.m.
Hannah Mitchison (UCL and GOSH)
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 23
Publications
- PMID:23849778
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ciliary dyskinesia, primary, 23, 615451
- Tags
- OMIM
- 615408
- Clinvar variants
- Variants in ARMC4
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added Tag
Catherine Snow (Genomics England)Tag new-gene-name tag was added to gene: ARMC4.
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for ARMC4 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ARMC4 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)ARMC4 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN