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Epilepsy Plus

Gene: KIF1BP

Green List (high evidence)
KIF1BP (KIF1 binding protein)
EnsemblGeneIds (GRCh38): ENSG00000198954
EnsemblGeneIds (GRCh37): ENSG00000198954
OMIM: 609367, Gene2Phenotype
KIF1BP is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for KIF1BP is KIFBP
Created: 6 Sep 2019, 3:02 p.m. | Last Modified: 6 Sep 2019, 3:02 p.m.
Panel Version: 0.16
added new-gene-name tab
Created: 9 Dec 2016, 3:22 p.m.
Created: 9 Dec 2016, 3:22 p.m.

Panel version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome
Tags
new-gene-name
OMIM
609367
Clinvar variants
Variants in KIF1BP
Penetrance
Complete
Publications
  • Brooks et al (2005) Am J Hum Genet 77: 120_126
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: KIF1BP.

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

KIAA1279 was changed to KIF1BP

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from KIAA1279. Panel: Epilepsy Plus

8 Dec 2016, Gel status: 4

Changed Gene Name

Ellen McDonagh (Genomics England Curator)

KIF1BP* was changed to KIAA1279

8 Sep 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

KIF1BP* was added to Epilepsy Pluspanel. Sources: UKGTN,Expert Review Green

8 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KIF1BP* was created by ellenmcdonagh