Pain syndromes
Gene: KIF1A
KIF1A (kinesin family member 1A)
EnsemblGeneIds (GRCh38): ENSG00000130294
EnsemblGeneIds (GRCh37): ENSG00000130294
OMIM: 601255, Gene2Phenotype
KIF1A is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000130294
EnsemblGeneIds (GRCh37): ENSG00000130294
OMIM: 601255, Gene2Phenotype
KIF1A is in 15 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Hereditary Sensory and Autonomic Neuropathy, Type II
- Neuropathy, hereditary sensory, type IIC, 614213
- OMIM
- 601255
- Clinvar variants
- Variants in KIF1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Angelman Rett like syndromes
- Prepair 1000+
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Genetic Epilepsy
- Regression
- Hereditary Spastic Paraplegia - adult onset
- Fetal anomalies
- Dystonia - complex
- Mendeliome
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Pain syndromes
- Cerebral Palsy
History Filter Activity
1 Apr 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
1 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KIF1A was added gene: KIF1A was added to Pain syndromes. Sources: Genomics England PanelApp,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