Epileptic encephalopathy
Gene: KIF1BP
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen Syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Added new-gene-name tag, new approved HGNC gene symbol for KIF1BP is KIFBPCreated: 6 Sep 2019, 3:02 p.m. | Last Modified: 6 Sep 2019, 3:02 p.m.
Panel Version: 1.153
added new-gene-name tagCreated: 9 Dec 2016, 3:22 p.m.
Changed the gene symbol back to KIAA1279 in order to be consistent with PanelApp's HGNC versioning, prior to update.Created: 8 Dec 2016, 11:26 a.m.
This gene symbol was converted from KIAA1279 to KIF1BP (new HGNC-approved symbol), as confirmed in HGNC, G2P and OMIM databases.Created: 1 Feb 2016, 9:45 a.m.
The HGNC-approved symbol for this gene is KIF1BP (confirmed on G2P and OMIM).Created: 20 Jan 2016, 12:53 p.m.
Comment on phenotypes: Phenotype sourced from reviewers, OMIM and G2P.Created: 20 Jan 2016, 12:52 p.m.
Tag new-gene-name tag was added to gene: KIF1BP.
KIAA1279 was changed to KIF1BP
new-gene-name was removed from KIAA1279. Panel: Epileptic encephalopathy
KIF1BP was changed to KIAA1279
KIAA1279 was changed to KIF1BP
Phenotypes for gene KIAA1279 were set to Goldberg-Shprintzen megacolon syndrome
This gene has been classified as Green List (High Evidence).
Phenotypes for KIAA1279 were set to Goldberg-Shprintzen megacolon syndrome
Publications for KIAA1279 were set to Brooks et al (2005) Am J Hum Genet 77: 120_126
The Gel status was updated for this whole panel
KIAA1279 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
KIAA1279 was added to Epileptic encephalopathypanel. Sources: UKGTN