Clefting disorders
Gene: KIF1BP
KIF1BP (KIF1 binding protein)
EnsemblGeneIds (GRCh38): ENSG00000198954
EnsemblGeneIds (GRCh37): ENSG00000198954
OMIM: 609367, Gene2Phenotype
KIF1BP is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000198954
EnsemblGeneIds (GRCh37): ENSG00000198954
OMIM: 609367, Gene2Phenotype
KIF1BP is in 13 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- GOSHS
- Goldberg-Shprintzen megacolon syndrome, 609460
- OMIM
- 609367
- Clinvar variants
- Variants in KIF1BP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Prepair 1000+
- Microcephaly
- Mendeliome
- Hirschsprung disease
- BabyScreen+ newborn screening
- Polymicrogyria and Schizencephaly
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
History Filter Activity
16 Sep 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KIF1BP was added gene: KIF1BP was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF1BP were set to 16760737; 7338549 Phenotypes for gene: KIF1BP were set to GOSHS; Goldberg-Shprintzen megacolon syndrome, 609460