Amyotrophic lateral sclerosis/motor neuron disease
Gene: AREnsemblGeneIds (GRCh38): ENSG00000169083
EnsemblGeneIds (GRCh37): ENSG00000169083
OMIM: 313700, Gene2Phenotype
AR is in 15 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 11 Nov 2021, 4:17 p.m. | Last Modified: 11 Nov 2021, 4:17 p.m.
Panel Version: 1.49
Comment on list classification: Nucleotide repeat expansion mechanism. In view of a lack of phenotypic relevance for SNVs and Kennedy disease (MIM# 313200), this gene was downgraded to Red. The disease-relevant STR (i.e. AR_CAG) is already Green on this panel which is the appropriate route for detecting cases.Created: 1 Jul 2021, 1:18 p.m. | Last Modified: 1 Jul 2021, 1:18 p.m.
Panel Version: 1.31
Arianna Tucci (Genomics England Curator)
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
- Other
- Sources
-
- Expert Review Red
- Expert Review
- Phenotypes
-
- Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
- Tags
- OMIM
- 313700
- Clinvar variants
- Variants in AR
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Intellectual disability
- Familial Meniere Disease
- Familial breast cancer
- Hereditary neuropathy
- DDG2P
- Differences in sex development
- Distal myopathies
- Ectodermal dysplasia
- Adult onset neurodegenerative disorder
- Paediatric motor neuronopathies
- Congenital myopathy
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Amyotrophic lateral sclerosis/motor neuron disease
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: AR was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AR were changed from Spinal and bulbar muscular atrophy of Kennedy, 313200 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ar has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Arianna Tucci (Genomics England Curator)AR was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Expert Review
Created
Arianna Tucci (Genomics England Curator)AR was created by arianna