Amyotrophic lateral sclerosis/motor neuron disease

Gene: AR

Green List (high evidence)

AR (androgen receptor)
EnsemblGeneIds (GRCh38): ENSG00000169083
EnsemblGeneIds (GRCh37): ENSG00000169083
OMIM: 313700, Gene2Phenotype
AR is in 18 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

The disease is caused by an expansion of 36 or more CAG trinucleotide repeats in the AR gene.
Created: 23 Mar 2017, 4:21 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Spinal and bulbar muscular atrophy of Kennedy, 313200

Mode of pathogenicity
Other

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Spinal and bulbar muscular atrophy of Kennedy, 313200
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
313700
Clinvar variants
Variants in AR
Penetrance
Complete
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

23 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Mar 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

AR was created by arianna

23 Mar 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

AR was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Expert Review