AR

androgen receptor
OMIM: 313700, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green AR in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.6	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypospadias 1, X-linked MIM#30063 Androgen insensitivity MIM#300068 Androgen insensitivity, partial, with or without breast cancer MIM#312300
Green AR in Mendeliome Version 1.2302	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypospadias 1, X-linked MIM#30063 Androgen insensitivity MIM#300068 Androgen insensitivity, partial, with or without breast cancer MIM#312300 Spinal and bulbar muscular atrophy of Kennedy MIM#313200
Red AR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes Spinal and bulbar muscular atrophy of Kennedy, MIM# 313200
Green AR in Additional findings_Paediatric Level 2: Screening Version 0.278	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BabySeq Category C gene BabySeq Category A gene Phenotypes Androgen insensitivity, MIM# 300068
Green AR in Fetal anomalies Version 1.313	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Androgen insensitivity, MIM# 300068 Androgen insensitivity syndrome, MONDO:0019154
Red AR in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category C gene BabySeq Category A gene Phenotypes Hypospadias 1, X-linked MIM#30063 Androgen insensitivity MIM#300068 Androgen insensitivity, partial, with or without breast cancer MIM#312300
Green SBMA STR in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.27 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Spinal and bulbar muscular atrophy of Kennedy MIM#313200 Tags STR
Green SBMA STR in Repeat Disorders Version 0.168	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Spinal and bulbar muscular atrophy of Kennedy MIM#313200 Tags adult-onset