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  2. Intellectual_disability
  3. KIF1BP
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Intellectual_disability

Gene: KIF1BP

Red List (low 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, 3:01 p.m. | Last Modified: 6 Sep 2019, 3:01 p.m.
Panel Version: 0.1178
added new-gene-name tag
Created: 9 Dec 2016, 3:24 p.m.
Created: 9 Dec 2016, 3:24 p.m.

Panel version: 0.1178

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome, 609460
Tags
new-gene-name
OMIM
609367
Clinvar variants
Variants in KIF1BP
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

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

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

KIAA1279 was changed to KIF1BP

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from KIAA1279. Panel: Intellectual_disability

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KIAA1279 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen