Early onset or syndromic epilepsy
Gene: KIF1A
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, 614255; Neuropathy, hereditary sensory, type IIC 614213; Spastic paraplegia 30 610357
Publications
Comment on list classification: Promoted to Green due to expert review and enough evidence for inclusion of this gene on this panel. More than 3 unrelated cases reported.Created: 11 Dec 2018, 2:43 p.m.
Comment on publications: PMID: 25265257 - five cases of 14 reported with de novo KIF1A variants were epileptic or had epileptic abnormalities (infantile spasms, partial complex and myoclinic seizures).Created: 11 Dec 2018, 2:41 p.m.
Seizures are present in some individuals with this intellectual disability syndrome.Created: 16 Aug 2018, 1:59 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 9, 614255
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: KIF1A were changed from Mental retardation, autosomal dominant 9 614255 to NESCAV syndrome, OMIM:614255
Source Wessex and West Midlands GLH was added to KIF1A.
Source NHS GMS was added to KIF1A.
Zornitza Stark: Seizures are present in some i
Gene: kif1a has been classified as Green List (High Evidence).
Gene: kif1a has been classified as Green List (High Evidence).
Publications for gene: KIF1A were set to
Phenotypes for gene: KIF1A were changed from to Mental retardation, autosomal dominant 9 614255
Mode of inheritance for gene: KIF1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Expert Review Amber was added to KIF1A. Panel: Genetic Epilepsy Syndromes
KIF1A was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
KIF1A was created by Sarah Leigh