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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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, and Confirmed for NEUROPATHY, HEREDITARY SENSORY, TYPE IIC.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as LOF for NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, and listed as All missense/in frame for MENTAL RETARDATION, AUTOSOMAL DOMINANT 9.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.134

History Filter Activity

4 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KIF1A were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; NEUROPATHY, HEREDITARY SENSORY, TYPE IIC to NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213; NESCAV SYNDROME, 614255

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC for gene: KIF1A

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC for gene: KIF1A

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: KIF1A was added gene: KIF1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KIF1A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 9