Paroxysmal central nervous system disorders
Gene: ELP1
Comment on list classification: Demoted ELP1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 2:49 p.m. | Last Modified: 9 Sep 2019, 2:49 p.m.
Panel Version: 0.43
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 a CNS disorderCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, Hereditary Sensory and Autonomic, Type III (also known as Dysautonomia, familial), 223900
Phenotypes for gene: ELP1 were changed from Neuropathy, Hereditary Sensory and Autonomic, Type III; Familial dysautonomia; Dysautonomia, familial, 223900 to Dysautonomia, familial, OMIM:223900
Gene: elp1 has been classified as Red List (Low Evidence).
Phenotypes for gene: ELP1 were changed from NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Familial dysautonomia; Dysautonomia, familial, 223900 to Neuropathy, Hereditary Sensory and Autonomic, Type III; Familial dysautonomia; Dysautonomia, familial, 223900
Gene: elp1 has been classified as Red List (Low Evidence).
Source NHS GMS was added to ELP1.
Source London North GLH was added to ELP1.
Source Wessex and West Midlands GLH was added to ELP1.
Added phenotypes NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Familial dysautonomia; Dysautonomia, familial, 223900 for gene: ELP1
gene: ELP1 was added gene: ELP1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELP1 were set to 11179021; 11179008; 17985250; 8102296 Phenotypes for gene: ELP1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Familial dysautonomia; Dysautonomia, familial, 223900