Rare multisystem ciliopathy disorders
Gene: ARMC4
ARMC4 (armadillo repeat containing 4)
EnsemblGeneIds (GRCh38): ENSG00000169126
EnsemblGeneIds (GRCh37): ENSG00000169126
OMIM: 615408, Gene2Phenotype
ARMC4 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000169126
EnsemblGeneIds (GRCh37): ENSG00000169126
OMIM: 615408, Gene2Phenotype
ARMC4 is in 7 panels
2 reviews
Catherine Snow (Genomics England)
Added new-gene-name tag, new approved HGNC gene symbol for ARMC4 is ODAD2Created: 24 Feb 2021, 5:02 p.m. | Last Modified: 24 Feb 2021, 5:02 p.m.
Panel Version: 1.139
Alice Gardham (Genomics England)
Comment when marking as ready: primary ciliary dyskinesia not included on this gene panelCreated: 23 Jan 2017, 2:14 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Ciliary dyskinesia, primary, 23, 615451
- Tags
- OMIM
- 615408
- Clinvar variants
- Variants in ARMC4
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
24 Feb 2021, Gel status: 1
Added Tag
Catherine Snow (Genomics England)Tag new-gene-name tag was added to gene: ARMC4.
26 Jan 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
23 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Nov 2016, Gel status: 0
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene ARMC4 were set to Ciliary dyskinesia, primary, 23, 615451
5 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ARMC4 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
5 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ARMC4 was created by ellenmcdonagh