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Intellectual disability

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

1 review

Olivia Niblock (Genomics England Curator)

Green List (high evidence)

8 families, 11 patients, spectrum of mutations in Joubert syndrome. All cases described in the literature displayed Intellectual Disability as a universal feature.
Created: 25 Jul 2017, 7:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome; Intellectual Disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome
  • Intellectual Disability
OMIM
617612
Clinvar variants
Variants in ARMC9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

25 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).

25 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).

25 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).

25 Jul 2017, Gel status: 0

Added New Source

Olivia Niblock (Genomics England Curator)

ARMC9 was added to Intellectual disabilitypanel. Sources: Literature

25 Jul 2017, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

ARMC9 was created by oniblock