Inherited ovarian cancer (without breast cancer)
Gene: AREnsemblGeneIds (GRCh38): ENSG00000169083
EnsemblGeneIds (GRCh37): ENSG00000169083
OMIM: 313700, Gene2Phenotype
AR is in 15 panels
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Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- Phenotypes
-
- Androgen insensitivity, OMIM:300068
- Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
- OMIM
- 313700
- Clinvar variants
- Variants in AR
- Penetrance
- Complete
- Panels with this gene
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- Familial Meniere Disease
- Familial breast cancer
- Hereditary neuropathy or pain disorder
- Differences in sex development
- Ectodermal dysplasia
- Intellectual disability
- Distal myopathies
- Fetal anomalies
- Paediatric motor neuronopathies
- Adult onset neurodegenerative disorder
- Congenital myopathy
- DDG2P
- Inherited ovarian cancer (without breast cancer)
- Amyotrophic lateral sclerosis/motor neuron disease
- Hereditary neuropathy
History Filter Activity
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, OMIM:300068; Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/07/2017: Promoted panel to version 1, after checking against the original list sent by Clare Turnbull for this panel.
Added New Source
Ellen McDonagh (Genomics England Curator)AR was added to Familial ovarian cancerpanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)AR was created by ellenmcdonagh