Laterality disorders and isomerism
Gene: ARMC4

ARMC4 (armadillo repeat containing 4)
EnsemblGeneIds (GRCh38): ENSG00000169126
EnsemblGeneIds (GRCh37): ENSG00000169126
OMIM: 615408, Gene2Phenotype
ARMC4 is in 7 panels

3 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for ARMC4 is ODAD2
Created: 24 Feb 2021, 5:01 p.m. | Last Modified: 24 Feb 2021, 5:01 p.m.

Panel Version: 1.21

Created: 24 Feb 2021, 5:01 p.m.
Last Modified: 24 Feb 2021, 5:01 p.m.
Panel version: 1.21

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton panel. Several bi-allelic pathogenic variants detected in PCD patients.
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ARMC4 encodes a protein involved in ciliary outer dynein arm assembly (Hjeij et al 2013 Am J Hum Genet 93(2):357-367). Pathogenic ARMC4 variants are known to cause PCD with situs inversus and cilia immotility, associated with loss of distal outer dynein arms. Loss of function is a known disease mechanism (Hjeij et al 2013 and Onoufriadis et al 2014 J Med Genet 51(1):61-67).
Created: 25 Nov 2019, 11:40 p.m. | Last Modified: 25 Nov 2019, 11:40 p.m.

Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM 615451 Ciliary dyskinesia, primary, 23

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Nov 2019, 11:40 p.m.
Last Modified: 25 Nov 2019, 11:40 p.m.
Panel version: 0.51

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: ARMC4; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.

Created: 5 Dec 2018, 12:52 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Ciliary dyskinesia, primary, 23, OMIM:615451

Tags

new-gene-name

OMIM

615408

Clinvar variants

Variants in ARMC4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

22 Nov 2024, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ARMC4 were changed from Ciliary dyskinesia, primary, 23, 615451 to Ciliary dyskinesia, primary, 23, OMIM:615451

24 Feb 2021, Gel status: 3

Added Tag

Catherine Snow (Genomics England)

Tag new-gene-name tag was added to gene: ARMC4.

27 Nov 2019, Gel status: 3