Malformations of cortical development
Gene: KIF1BPEnsemblGeneIds (GRCh38): ENSG00000198954
EnsemblGeneIds (GRCh37): ENSG00000198954
OMIM: 609367, Gene2Phenotype
KIF1BP is in 8 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for KIF1BP is KIFBPCreated: 6 Sep 2019, 3 p.m. | Last Modified: 6 Sep 2019, 3 p.m.
Panel Version: 1.171
Alice Gardham (Genomics England)
Recognised on G2PCreated: 19 Dec 2016, 1:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome 609460
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 609367
- Clinvar variants
- Variants in KIF1BP
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: KIF1BP.
Changed Gene Name
GEL ()KIAA1279 was changed to KIF1BP
Removed Tag
GEL ()new-gene-name was removed from KIAA1279. Panel: Malformations of cortical development
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)KIAA1279 was added to Malformations of cortical developmentpanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Created
Alice Gardham (Genomics England)KIAA1279 was created by agardham