Genes in panel

Hereditary ataxia - adult onset

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

9 reports on OMIM. 10 Joubert DM in HGMD. Relevant phenotype
Created: 27 Apr 2019, 7:39 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • 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

1 Aug 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ARMC9 were set to

1 Aug 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ARMC9 was changed from to BIALLELIC, autosomal or pseudoautosomal

1 Aug 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to ARMC9.

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ARMC9.

27 Apr 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ARMC9 was added gene: ARMC9 was added to Hereditary ataxia - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ARMC9 was set to