Familial Hirschsprung Disease
Gene: KIF1BP

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

4 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for KIF1BP is KIFBP
Created: 6 Sep 2019, 3:03 p.m. | Last Modified: 6 Sep 2019, 3:03 p.m.

Panel Version: 1.6

Created: 6 Sep 2019, 3:03 p.m.
Last Modified: 6 Sep 2019, 3:03 p.m.
Panel version: 1.6

Erwin Brosens (Erasmus MC)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Aug 2017, 6:18 a.m.

Panel version: 0.83

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked KIAA1279/KIF1BP as ready: August 3rd 2017.
Created: 3 Aug 2017, 9:34 a.m.

Comment on list classification: Updated rating from Amber to Green based on Expert green review and sufficient cases of KIAA1279/KIF1BP variants causing Goldberg-Shprintzen megacolon syndrome, which can manifest with Hirschsprung's.
Created: 3 Aug 2017, 9:34 a.m.

Comment on list classification: Updated rating from Amber to Red while awaiting external review. KIAA1279/KIF1BP is a confirmed DD-G2P gene for Goldberg-Shprintzen megacolon syndrome (MIM:609460) with >3 unrelated cases supporting causation. Although not a consistent feature of the disease, Hirschsprung disease is seen in many GOSHS patients.
Created: 3 Aug 2017, 9:32 a.m.

Comment on mode of inheritance: Biallelic MOI supported by OMIM and DD-G2P.
Created: 1 Aug 2017, 2:07 p.m.

Comment on phenotypes: The majority of affected persons with Goldberg-Shprintzen syndrome (MIM:609460) suffer from Hirschsprung disease.
Created: 1 Aug 2017, 2:06 p.m.

PMID:28277559 (Salehpour et al., 2017) report a 16 yr old patient with Goldberg-Shprintzen syndrome and a nonsense homozygous mutation in KIAA1279/KIF1BP (p.Q326X). The patient suffered from Hirschsprung disease.
Created: 1 Aug 2017, 2:04 p.m.

Added 'new-gene-name' tag because the current HGNC symbol is KIF1BP.
Created: 8 May 2017, 10:01 a.m.

Created: 1 Aug 2017, 2:04 p.m.

Panel version: 0.69

Sumita Chhabra (University of Liverpool / Alder Hey Children's Hospital)

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 May 2017, 10:36 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Other
Alder Hey - Erasmus MC

Phenotypes

Goldberg-Shprintzen megacolon syndrome, 609460 (includes Hirschsprung disease)
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: Familial Hirschsprung Disease

18 Oct 2017, Gel status: 4