Joubert syndrome

Gene: ARMC9

Green List (high evidence)

ARMC9 (armadillo repeat containing 9)
EnsemblGeneIds (GRCh38): ENSG00000135931
EnsemblGeneIds (GRCh37): ENSG00000135931
OMIM: 617612, Gene2Phenotype
ARMC9 is in 8 panels

1 review

Olivia Niblock (Genomics England Curator)

I don't know

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