KIF1BP

KIF1 binding protein
OMIM: 609367, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green KIF1BP in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.201 Component of the following Super Panels: Malformations of cortical development_Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Goldberg-Shprintzen megacolon syndrome MIM#609460 Tags new gene name
Green KIF1BP in Hirschsprung disease Level 2: Gastroenterological disorders Version 0.27	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green KIF1BP in Mendeliome Version 1.3512	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Goldberg-Shprintzen megacolon syndrome, MIM# 609460 Tags new gene name
Green KIF1BP in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.357	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Goldberg-Shprintzen megacolon syndrome, MIM# 609460 Tags new gene name
Red KIF1BP in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Goldberg-Shprintzen megacolon syndrome, MIM# 609460
Green KIF1BP in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green KIF1BP in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Goldberg-Shprintzen megacolon syndrome 609460 Tags new gene name
Green KIF1BP in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 (3)
Red KIF1BP in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Goldberg-Shprintzen megacolon syndrome
Green KIF1BP in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GOSHS Goldberg-Shprintzen megacolon syndrome, 609460
Green KIF1BP in Fetal anomalies Version 1.465	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Goldberg-Shprintzen megacolon syndrome, MIM# 609460
Green KIF1BP in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 (3)
Red KIF1BP in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Goldberg-Shprintzen megacolon syndrome