Paroxysmal central nervous system disorders
Gene: KIF1A
Comment on list classification: Demoted KIF1A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:19 p.m. | Last Modified: 9 Sep 2019, 3:19 p.m.
Panel Version: 0.61
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, type IIC, 614213; Spastic paraplegia 30, autosomal recessive, 610357
Phenotypes for gene: KIF1A were changed from Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213 to Neuropathy, hereditary sensory, type IIC, OMIM:614213
Gene: kif1a has been classified as Red List (Low Evidence).
Gene: kif1a has been classified as Red List (Low Evidence).
Source NHS GMS was added to KIF1A.
Source London North GLH was added to KIF1A.
Source Wessex and West Midlands GLH was added to KIF1A.
Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
gene: KIF1A was added gene: KIF1A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF1A were set to 25265257; 21820098 Phenotypes for gene: KIF1A were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213