Renal 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

5 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Reverting this gene to green so that it is the same rating as the signed off version of this panel (v1.2). It should be reviewed at the next GMS update.
Created: 19 Jan 2021, 2:27 p.m. | Last Modified: 19 Jan 2021, 2:27 p.m.
Panel Version: 1.39
Panel was signed off on 4th March and this gene was green from being imported from the larger Rare multisystem ciliopathy disorders panel. Subsequently it was changed to red as the phenotype does not have a renal component. It should be reverted to green again with a recommendation for red rating following GMS review.
Created: 19 Jan 2021, 2:26 p.m. | Last Modified: 19 Jan 2021, 2:26 p.m.
Panel Version: 1.38

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

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

History Filter Activity

19 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: armc9 has been classified as Green List (High Evidence).

24 Jun 2020, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: ARMC9.

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