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  3. ARMC9
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Unexplained young onset end-stage renal disease - additional genes

Gene: ARMC9

Green List (high evidence)
ARMC9 (armadillo repeat containing 9)
EnsemblGeneIds (GRCh38): ENSG00000135931
EnsemblGeneIds (GRCh37): ENSG00000135931
OMIM: 617612, Gene2Phenotype
ARMC9 is in 9 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 25 Sep 2024, 9:36 p.m.
Last Modified: 25 Sep 2024, 9:36 p.m.
Panel version: 0.65

Moin Saleem (University of Bristol)

Green List (high evidence)

Include on the Unexplained paediatric onset end-stage renal disease panel. Review from Moin Saleem and Caroline Platt, University of Bristol.
Created: 25 Sep 2019, 10:58 a.m. | Last Modified: 25 Sep 2019, 10:58 a.m.
Panel Version: 0.42
Created: 25 Sep 2019, 10:58 a.m.
Last Modified: 25 Sep 2019, 10:58 a.m.
Copied from panel: Unexplained young onset end-stage renal disease v5.3

Eleanor Williams (Genomics England Curator)

I don't know

Green on the Renal ciliopathies/Cystic renal disease panel.
Created: 25 Sep 2019, 10:56 a.m. | Last Modified: 25 Sep 2019, 10:56 a.m.
Panel Version: 0.41
Created: 25 Sep 2019, 10:56 a.m.
Last Modified: 25 Sep 2019, 10:56 a.m.
Copied from panel: Unexplained young onset end-stage renal disease v5.3

Details

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

History Filter Activity

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30, 617622 to Joubert syndrome 30, OMIM:617622

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Added phenotypes Joubert syndrome 30, 617622 for gene: ARMC9

25 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ARMC9 was added gene: ARMC9 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: NHS GMS,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