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Clefting
Gene: KIF1BP

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

3 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for KIF1BP is KIFBP
Created: 6 Sep 2019, 2:59 p.m. | Last Modified: 6 Sep 2019, 2:59 p.m.

Panel Version: 1.59

Created: 6 Sep 2019, 2:59 p.m.
Last Modified: 6 Sep 2019, 2:59 p.m.
Panel version: 1.59

Ellen McDonagh (Genomics England Curator)

Added 'new-gene-name' tag: the HGNC-approved symbol for KIAA1279 is KIF1BP.
Created: 31 May 2017, 11:13 a.m.

Created: 31 May 2017, 11:13 a.m.

Panel version: 0.286

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Confirmed DD-G2P gene for Goldberg-Shprintzen megacolon syndrome. Cleft palate has been described as an additional feature in association with Goldberg Shprintzen syndrome (GOSHS) (PMID 7338549, 16760737). Rated as green after discussion with clinical team.
Created: 31 May 2017, 11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Goldberg-Shprintzen megacolon syndrome, 609460; GOSHS

Publications

Created: 31 May 2017, 11 a.m.

Panel version: 0.284

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Goldberg-Shprintzen megacolon syndrome, 609460
GOSHS

Tags

new-gene-name

OMIM

609367

Clinvar variants

Variants in KIF1BP

Penetrance

Complete

Publications

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: Clefting

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

KIAA1279 was added to Cleftingpanel. Sources: Expert Review Green

31 May 2017, Gel status: 0

Created