Cerebral Palsy
Gene: KIF1AEnsemblGeneIds (GRCh38): ENSG00000130294
EnsemblGeneIds (GRCh37): ENSG00000130294
OMIM: 601255, Gene2Phenotype
KIF1A is in 15 panels
2 reviews
Clare van Eyk (University of Adelaide)
Additional 3 individuals with mono-allelic P/LP variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.Created: 27 May 2024, 6:33 a.m. | Last Modified: 27 May 2024, 6:33 a.m.
Panel Version: 1.193
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 30, autosomal dominant, MIM# 610357
Publications
- PMID: 38693247
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Overlapping phenotype and at least two individuals identified as part of a CP cohort.
Sources: LiteratureCreated: 6 Oct 2020, 10:48 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 30, autosomal dominant, MIM# 610357
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Spastic paraplegia 30, autosomal dominant, MIM# 610357
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif1a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif1a has been classified as Green List (High Evidence).
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 Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF1A were set to 31700678 Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal dominant, MIM# 610357 Review for gene: KIF1A was set to GREEN