Paroxysmal central nervous system disorders
Gene: AKR1C2
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Not relevantCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
Unknown
Phenotypes
Obesity, hyperphagia, and developmental delay
Gene: akr1c2 has been classified as Red List (Low Evidence).
Source NHS GMS was added to AKR1C2.
Source London North GLH was added to AKR1C2.
Source Wessex and West Midlands GLH was added to AKR1C2.
Added phenotypes Obesity, hyperphagia, and developmental delay for gene: AKR1C2
gene: AKR1C2 was added gene: AKR1C2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red Mode of inheritance for gene: AKR1C2 was set to Unknown Phenotypes for gene: AKR1C2 were set to Obesity, hyperphagia, and developmental delay