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  3. ARMC4
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Heterotaxy

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 23849778 - 10 unrelated families with CDP, patients were homozygous for mostly PTCs but also missense.
Created: 4 May 2020, 10:23 a.m. | Last Modified: 4 May 2020, 10:23 a.m.
Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 23, MIM# 615451

Publications

Created: 4 May 2020, 10:23 a.m.
Last Modified: 4 May 2020, 10:23 a.m.
Panel version: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 23, MIM# 615451
Tags
new gene name
OMIM
615408
Clinvar variants
Variants in ARMC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 May 2024, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: armc4 has been classified as Green List (High Evidence).

4 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARMC4 were set to

4 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ARMC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARMC4 was added gene: ARMC4 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARMC4 was set to Unknown