Familial Hirschsprung Disease
Gene: KIF1BPAdded new-gene-name tag, new approved HGNC gene symbol for KIF1BP is KIFBPCreated: 6 Sep 2019, 3:03 p.m. | Last Modified: 6 Sep 2019, 3:03 p.m.
Panel Version: 1.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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.
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: KIF1BP.
KIAA1279 was changed to KIF1BP
new-gene-name was removed from KIAA1279. Panel: Familial Hirschsprung Disease
18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for KIAA1279 were set to 28277559; 15883926
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for KIAA1279 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for KIAA1279 were set to 28277559
Phenotypes for KIAA1279 were set to Goldberg-Shprintzen megacolon syndrome, 609460 (includes Hirschsprung disease); GOSHS
KIAA1279 was added to Familial Hirschsprung Diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
KIAA1279 was added to Familial Hirschprungs Diseasepanel. Sources: Other
Phenotypes for KIAA1279 were set to Goldberg-Shprintzen megacolon syndrome, 609460; Goldberg-Shprintzen megacolon syndrome (includes Hirschsprung disease in most patients)
KIF1BP* was changed to KIAA1279
KIF1BP* was created by rfoulger
KIF1BP* was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC