This Panel is marked as Internal
Joubert syndrome
Gene: ARMC9
ARMC9 (armadillo repeat containing 9)
EnsemblGeneIds (GRCh38): ENSG00000135931
EnsemblGeneIds (GRCh37): ENSG00000135931
OMIM: 617612, Gene2Phenotype
ARMC9 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000135931
EnsemblGeneIds (GRCh37): ENSG00000135931
OMIM: 617612, Gene2Phenotype
ARMC9 is in 9 panels
1 review
Olivia Niblock (Genomics England Curator)
After clinical discussion and literature search we found 8 families, 11 patients and a spectrum of mutations linking variations in this gene and Joubert syndrome.Created: 24 Jul 2017, 2:34 p.m.
Mode of inheritance
Unknown
Phenotypes
Joubert syndrome
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Joubert syndrome
- OMIM
- 617612
- Clinvar variants
- Variants in ARMC9
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
24 Jul 2017, Gel status: 4
Set Mode of Inheritance
Olivia Niblock (Genomics England Curator)Mode of inheritance for ARMC9 was changed to BIALLELIC, autosomal or pseudoautosomal
24 Jul 2017, Gel status: 4
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Jul 2017, Gel status: 2
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
24 Jul 2017, Gel status: 0
Set publications
Olivia Niblock (Genomics England Curator)Publications for ARMC9 were set to 28625504
24 Jul 2017, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)ARMC9 was created by oniblock
24 Jul 2017, Gel status: 0
Added New Source
Olivia Niblock (Genomics England Curator)ARMC9 was added to Joubert syndromepanel. Sources: Literature