Amyotrophic lateral sclerosis/motor neuron disease
Gene: ARComment 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
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
Mode of inheritance for gene: AR was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to Other
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
Gene: ar has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
AR was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Expert Review
AR was created by arianna