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