1. Genes and Genomic Entities
  2. KIF1BP

KIF1BP

KIF1 binding protein
OMIM: 609367, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green KIF1BP in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.11

review 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
Green KIF1BP in Malformations of cortical development


Level 2: Neurology
Version 7.30
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • Goldberg-Shprintzen megacolon syndrome 609460
    Tags
    • new-gene-name
    Green KIF1BP in Severe microcephaly


    Level 2: Neurology
    Version 8.31
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • Goldberg-Shprintzen megacolon syndrome, 609460 (Microcephaly)
    Tags
    • new-gene-name
    Green KIF1BP in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
    Tags
    • new-gene-name
    Green KIF1BP in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME 609460
    Tags
    • new-gene-name
    Green KIF1BP in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Goldberg-Shprintzen megacolon syndrome, 609460
    • GOSHS
    Tags
    • new-gene-name
    Amber KIF1BP in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • UKGTN
    Phenotypes
    • Goldberg-Shprintzen megacolon syndrome 609460
    Tags
    • new-gene-name
    Green KIF1BP in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Goldberg-Shprintzen megacolon syndrome, 609460
    Tags
    • new-gene-name