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  3. ARMC9
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Ataxia - paediatric

Gene: ARMC9

Red List (low evidence)
ARMC9 (armadillo repeat containing 9)
EnsemblGeneIds (GRCh38): ENSG00000135931
EnsemblGeneIds (GRCh37): ENSG00000135931
OMIM: 617612, Gene2Phenotype
ARMC9 is in 8 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM: ARMC9 localizes to the ciliary basal body and daughter centriole and is predicted to function in ciliogenesis

PMID: 28625504 - 8 families with Joubert syndrome, all variant types detected. Functional studies show protein localizes at the basal body and upregulates during ciliogenesis. Zebrafish with frameshift mutation recapitulated the human phenotype including a curved body, coloboma, retinal dystrophy and less cilia.
Sources: Expert list
Created: 4 May 2020, 4:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 30 617622 AR

Publications

Created: 4 May 2020, 4:41 a.m.

Panel version: Imported from Mendeliome panel version Imported from Ciliopathies panel version 0.78

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Ataxia is not a prominent feature of the phenotype.
Created: 27 Dec 2019, 4:11 a.m. | Last Modified: 27 Dec 2019, 4:11 a.m.
Panel Version: 0.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 30, MIM#617622

Created: 27 Dec 2019, 4:11 a.m.
Last Modified: 27 Dec 2019, 4:11 a.m.
Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 30, MIM#617622
OMIM
617612
Clinvar variants
Variants in ARMC9
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: armc9 has been classified as Red List (Low Evidence).

17 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30 to Joubert syndrome 30, MIM#617622

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: armc9 has been classified as Red List (Low Evidence).

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ARMC9 was added gene: ARMC9 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARMC9 were set to Joubert syndrome 30