Rare multisystem ciliopathy disorders

Gene: ARMC9

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.

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

• 28625504

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

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

• 28625504