KIF1BP

KIF1 binding protein
OMIM: 609367, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green KIF1BP in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.10	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 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.1 Latest signed off version: v5.0 (1 May 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 Emory Genetics Laboratory UKGTN Phenotypes Goldberg-Shprintzen megacolon syndrome 609460 Tags new-gene-name
Green KIF1BP in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.1 Latest signed off version: v5.0 (1 May 2024)	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 Version 4.1 Latest signed off version: v4.0 (1 May 2024)	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 4.1 Latest signed off version: v4.0 (1 May 2024) 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 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.1 Latest signed off version: v5.0 (1 May 2024) 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 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.1 Latest signed off version: v5.0 (1 May 2024) 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 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.1 Latest signed off version: v6.0 (1 May 2024) 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
Green KIF1BP in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 Tags new-gene-name