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  3. KIF1A
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Fetal anomalies

Gene: KIF1A

Green List (high evidence)
KIF1A (kinesin family member 1A)
EnsemblGeneIds (GRCh38): ENSG00000130294
EnsemblGeneIds (GRCh37): ENSG00000130294
OMIM: 601255, Gene2Phenotype
KIF1A is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Brain abnormalities reported with the mono-allelic disorder.
Created: 13 Jan 2022, 6:32 a.m. | Last Modified: 13 Jan 2022, 6:32 a.m.
Panel Version: 0.2024
Comment when marking as ready: Monoallelic variants associated with ID; bi-allelic variants associated with neuropathy/spastic paraplegia phenotypes.
Created: 31 Jan 2020, 11:37 a.m. | Last Modified: 31 Jan 2020, 11:37 a.m.
Panel Version: 0.1837

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
NESCAV syndrome, MIM# 614255

Created: 31 Jan 2020, 11:37 a.m.
Last Modified: 31 Jan 2020, 11:37 a.m.
Panel version: 0.2024

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

- Loss-of-function - PTC variants tend to present with peripheral nervous system disorder/HSN2C (PMID: 22258533)
- Dominant negative: Missense variants associated with AD intellectual disability within the kinesin motor domain. A rare case of AD spastic paraplegia demonstrated the same effect (PMID: 28970574)
Created: 31 Jan 2020, 4:04 a.m. | Last Modified: 31 Jan 2020, 4:04 a.m.
Panel Version: 0.1805

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
1. Mental retardation, autosomal dominant 9 614255 AD; 2. Neuropathy, hereditary sensory, type IIC 614213 AR; 3. Spastic paraplegia 30, autosomal recessive 610357 AR; 4. Hereditary spastic paraplegia, AD (PMID 31488895); 5. Rett syndrome (typical) AD (PMID 31512412)

Publications

Mode of pathogenicity
Other

Created: 31 Jan 2020, 4:04 a.m.
Last Modified: 31 Jan 2020, 4:04 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1805

History Filter Activity

13 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif1a has been classified as Green List (High Evidence).

13 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF1A were changed from NESCAV SYNDROME, 614255; NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213 to NESCAV syndrome, MIM# 614255

13 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIF1A were set to

13 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIF1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF1A was added gene: KIF1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KIF1A were set to NESCAV SYNDROME, 614255; NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213