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 0.189 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	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 0.25	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green KIF1BP in Mendeliome Version 1.1891	review	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 1.269	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 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	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 0.522	review	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 0.6063	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 0.109	review	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	review	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 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GOSHS Goldberg-Shprintzen megacolon syndrome, 609460
Green KIF1BP in Fetal anomalies Version 1.255	review	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 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 (3)
Red KIF1BP in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Goldberg-Shprintzen megacolon syndrome