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Epileptic encephalopathy

Gene: KIF1BP

Green List (high evidence)

KIF1BP (KIF1 binding protein)
EnsemblGeneIds (GRCh38): ENSG00000198954
EnsemblGeneIds (GRCh37): ENSG00000198954
OMIM: 609367, Gene2Phenotype
KIF1BP is in 8 panels

7 reviews

Feyzollah Hashemi-Gorji (Genomic Research Center, Shahid Beheshti University of Medical Sciences)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Goldberg-Shprintzen Syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Goldberg-Shprintzen megacolon syndrome

Publications

  • Brooks et al (2005) Am J Hum Genet 77: 120_126

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Goldberg-Shprintzen megacolon syndrome

Publications

  • Brooks et al (2005) Am J Hum Genet 77: 120_126

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Goldberg-Shprintzen megacolon syndrome

Publications

  • Brooks et al (2005) Am J Hum Genet 77: 120_126

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Goldberg-Shprintzen megacolon syndrome

Publications

  • Brooks et al (2005) Am J Hum Genet 77: 120 126

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

added new-gene-name tag
Created: 9 Dec 2016, 3:22 p.m.

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome
OMIM
609367
Clinvar variants
Variants in KIF1BP
Penetrance
Complete
Publications
  • Brooks et al (2005) Am J Hum Genet 77: 120_126
  • Brooks et al (2005) Am J Hum Genet 77: 120_126
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

KIAA1279 was changed to KIF1BP

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from KIAA1279. Panel: Epileptic encephalopathy

8 Dec 2016, Gel status: 4

Changed Gene Name

Ellen McDonagh (Genomics England Curator)

KIF1BP was changed to KIAA1279

1 Feb 2016, Gel status: 4

Changed Gene Name

Ellen McDonagh (Genomics England Curator)

KIAA1279 was changed to KIF1BP

1 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene KIAA1279 were set to Goldberg-Shprintzen megacolon syndrome

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for KIAA1279 were set to Goldberg-Shprintzen megacolon syndrome

20 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KIAA1279 were set to Brooks et al (2005) Am J Hum Genet 77: 120_126

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

KIAA1279 was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KIAA1279 was added to Epileptic encephalopathypanel. Sources: UKGTN