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  3. KIF1A
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Angelman Rett like syndromes

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Individuals identified in Rett and Rett-like cohorts.
Sources: Literature
Created: 12 Nov 2020, 7:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
NESCAV syndrome, MIM# 614255; Rett-like syndrome

Publications

Created: 12 Nov 2020, 7:58 a.m.

Panel version: 0.25

History Filter Activity

12 Nov 2020, 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).

12 Nov 2020, 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).

12 Nov 2020, Gel status: 1

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 Angelman Rett like syndromes. Sources: Literature Mode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF1A were set to 31512412; 32652677 Phenotypes for gene: KIF1A were set to NESCAV syndrome, MIM# 614255; Rett-like syndrome Review for gene: KIF1A was set to GREEN