Renal ciliopathies

Gene: ARMC9

Red List (low evidence)

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

4 reviews

Catherine Snow (Genomics England)

Comment on list classification: ARMC9 appeared on the renal ciliopathies as it was imported from the Rare multisystem ciliopathy disorders panel version 1.86. Review from Zornitza Stark and also OMIM stating that ARMC9 has no hepatic or renal involvement.
Created: 30 Mar 2020, 4:19 p.m. | Last Modified: 30 Mar 2020, 4:19 p.m.
Panel Version: 1.12

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)

Red List (low evidence)

Gene not associated with a renal phenotype.
Created: 3 Jan 2020, 3:32 a.m. | Last Modified: 3 Jan 2020, 3:32 a.m.
Panel Version: 1.0
Specifically no renal phenotype described with this gene, plus this is a syndromic condition.
Created: 3 Jan 2020, 3:21 a.m. | Last Modified: 3 Jan 2020, 3:21 a.m.
Panel Version: 1.0
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

History Filter Activity

30 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: ARMC9 was added gene: ARMC9 was added to Renal ciliopathies. Sources: Literature,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