Neurological ciliopathies

Gene: ARMC9

Green List (high evidence)

ARMC9 (armadillo repeat containing 9)
EnsemblGeneIds (GRCh38): ENSG00000135931
EnsemblGeneIds (GRCh37): ENSG00000135931
OMIM: 617612, Gene2Phenotype
ARMC9 is in 10 panels

3 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green. Confirmed Disease confidence rating in DDG2P for Joubert syndrome 30. Green rating by Zornitza Stark and Olivia Niblock. Sufficient cases to support causation from PMID:28625504: In 11 patients from 8 unrelated families with Joubert syndrome-30 (MIM:617622), Van De Weghe et al. (2017, PMID:28625504) identified 10 different homozygous or compound heterozygous variants in the ARMC9 gene. Variants in the first 2 families were found by WES of 53 patients from 51 families with a clinical diagnosis of Joubert syndrome. Variants in 3 additional unrelated patients were found by targeted sequencing of the ARMC9 gene, and the remaining 2 families were ascertained from a cohort of Saudi Arabian families who underwent exome sequencing.
Created: 11 Jun 2019, 2:24 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

11 patients from 8 unrelated families reported in the literature with Joubert syndrome.
Created: 3 Aug 2018, 6:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome, 30 MIM#617622

Publications

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

Olivia Niblock (Genomics England Curator)

Green List (high evidence)

After clinical discussion, it was decided to add this gene to the panel as variations in this gene are linked to Joubert syndrome, a related disorder.
Created: 24 Jul 2017, 2:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Joubert syndrome 30, 617622
OMIM
617612
Clinvar variants
Variants in ARMC9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: ARMC9 was added gene: ARMC9 was added to Neurological ciliopathies. Sources: Expert Review Green 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, 617622