Ectodermal dysplasia

Gene: AR

Red List (low evidence)

AR (androgen receptor)
EnsemblGeneIds (GRCh38): ENSG00000169083
EnsemblGeneIds (GRCh37): ENSG00000169083
OMIM: 313700, Gene2Phenotype
AR is in 18 panels

1 review

Catherine Snow (Genomics England)

I don't know

Comment on list classification: No gene disease association can be found.
Created: 2 Dec 2019, 3:57 p.m. | Last Modified: 2 Dec 2019, 3:57 p.m.
Panel Version: 0.23
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: AR ; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 3 Sep 2019, 4:12 p.m. | Last Modified: 3 Sep 2019, 4:12 p.m.
Panel Version: 0.15

Phenotypes
Androgen insensitivity, 300068; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633; Spinal and bulbar muscular atrophy of Kennedy, 313200

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Androgen insensitivity, OMIM:300068
  • Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
  • Hypospadias 1, X-linked, OMIM:300633
  • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
OMIM
313700
Clinvar variants
Variants in AR
Penetrance
None
Panels with this gene

History Filter Activity

12 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AR were changed from Androgen insensitivity, 300068; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633; Spinal and bulbar muscular atrophy of Kennedy, 313200 to Androgen insensitivity, OMIM:300068; Androgen insensitivity, partial, with or without breast cancer, OMIM:312300; Hypospadias 1, X-linked, OMIM:300633; Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200

2 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: ar has been classified as Red List (Low Evidence).

3 Sep 2019, Gel status: 2

Set Phenotypes

Catherine Snow (Genomics England)

Phenotypes for gene: AR were changed from to Androgen insensitivity, 300068; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633; Spinal and bulbar muscular atrophy of Kennedy, 313200

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: AR was added gene: AR was added to Ectodermal dysplasia. Sources: Expert Review Amber Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females