Familial breast cancer
Gene: AR
AR (androgen receptor)
EnsemblGeneIds (GRCh38): ENSG00000169083
EnsemblGeneIds (GRCh37): ENSG00000169083
OMIM: 313700, Gene2Phenotype
AR is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000169083
EnsemblGeneIds (GRCh37): ENSG00000169083
OMIM: 313700, Gene2Phenotype
AR is in 15 panels
1 review
Paul Pharoah (University of Cambridge)
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
- OMIM
- 313700
- Clinvar variants
- Variants in AR
- Penetrance
- Complete
- 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
11 Nov 2021, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AR were changed from Androgen insensitivity, 300068; Spinal and bulbar muscular atrophy of Kennedy, 313200; Androgen insensitivity, partial, with or without breast cancer, 312300; {Prostate cancer, susceptibility to}, 176807; Hypospadias 1, X-linked, 300633 to Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
29 Jan 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
27 Jul 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)AR was added to Familial breast cancerpanel. Sources: Radboud University Medical Center, Nijmegen