Syndromic Retinopathy
Gene: ARMC9EnsemblGeneIds (GRCh38): ENSG00000135931
EnsemblGeneIds (GRCh37): ENSG00000135931
OMIM: 617612, Gene2Phenotype
ARMC9 is in 8 panels
3 reviews
Bryony Thompson (Royal Melbourne Hospital)
Retinal dystrophy has been reported in two out of nine cases. Knockout of Armc9 in zebrafish resulted in curved body shape, retinal dystrophy, coloboma, reduced cilia number in ventricles, and shortened cilia in photoreceptor outer segments.
Sources: Expert listCreated: 21 May 2020, 4:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 30 MIM#617622
Publications
Elena Savva (Victorian Clinical Genetics Services)
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 listCreated: 4 May 2020, 4:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 30 617622 AR
Publications
- PMID: 28625504
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.Created: 4 May 2020, 10:33 a.m. | Last Modified: 4 May 2020, 10:33 a.m.
Panel Version: 0.2723
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 30, MIM#617622
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Joubert syndrome 30 MIM#617622
- OMIM
- 617612
- Clinvar variants
- Variants in ARMC9
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: armc9 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: armc9 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ARMC9 was added gene: ARMC9 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARMC9 were set to 28625504 Phenotypes for gene: ARMC9 were set to Joubert syndrome 30 MIM#617622 Review for gene: ARMC9 was set to AMBER