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Genetic epilepsy syndromes

Gene: KIF1BP

Amber List (moderate evidence)

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

8 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

previuosly known as KIAA1279. Traditionally, this variant this gene are not associated with seizures per se. Differential diagnosis would include: Loeys-Dietz syndrome (LDS), Marfan syndrome (MFS), and Mowat-Wilson syndrome (MOWS). AR Goldberg-Shprintzen megacolon syndrome (GOSHS). No mention on OMIM that epilepsy is a feature. Brooks et al 2005 - says that patients with GOSHS discussed in published reports - neurological symptoms not studied in detail. Large consang Moroccan family with HSCR reported by Brooks et al, 1999 - hom nonsense variant detected. Also looked at a consang British-Pakistani family - diff hom nonsense variant. No mention that either of these families had epilepsy. Salehpour et al, 2017 - 16 year old Iranian patient GOSHS and refractory seizures - hom nonsense variant detected. They have a table of other reported mutations of which there are 7 all are nonsense or lead to premature stop. No mention in the clinical features of any of these other cases of seizures (table 1).
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Goldberg-Shprintzen megacolon syndrome, 609460

Publications

Rebecca Foulger (Genomics England curator)

I don't know

As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green, and an Amber rating is appropriate. Demoted from Green to Amber.
Created: 15 Aug 2019, 8:39 a.m. | Last Modified: 15 Aug 2019, 8:39 a.m.
Panel Version: 1.224
Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. In summary: although the association with GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME is strong, there is little direct evidence for seizures (PMID:28277559 identifies one case). Therefore consider demoting KIF1BP.
Created: 15 Aug 2019, 8:39 a.m. | Last Modified: 15 Aug 2019, 10:28 a.m.
Panel Version: 1.236
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
PMID:28277559: Salehpour et al., 2017 report a 16 year old male from Iran with features of Goldberg-Shprintzen syndrome plus refractory seizures. He had a nonsense homozygous variant in KIAA1279/KIF1BP (p.Q326X).
Created: 22 Jul 2019, 12:51 p.m. | Last Modified: 22 Jul 2019, 12:51 p.m.
Panel Version: 1.176

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, new approved HGNC gene symbol for KIF1BP is KIFBP
Created: 6 Sep 2019, 2:59 p.m. | Last Modified: 6 Sep 2019, 2:59 p.m.
Panel Version: 1.263
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 Amber
  • Wessex and West Midlands GLH
  • NHS GMS
  • UKGTN
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome 609460
Tags
new-gene-name
OMIM
609367
Clinvar variants
Variants in KIF1BP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 2

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: KIF1BP.

15 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: kif1bp has been classified as Amber List (Moderate Evidence).

15 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: kif1bp has been classified as Amber List (Moderate Evidence).

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to KIF1BP.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to KIF1BP.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on phenotypes: Phenoty

4 Oct 2018, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: KIF1BP were set to 15883926; 28277559

4 Oct 2018, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: KIF1BP were set to 15883926; 28277559

4 Oct 2018, Gel status: 4

Removed Source, Set Phenotypes, Set publications

Sarah Leigh (Genomics England Curator)

Source Victorian Clinical Genetics Services was removed from KIF1BP. Phenotypes for gene: KIF1BP were changed from Goldberg-Shprintzen megacolon syndrome to Goldberg-Shprintzen megacolon syndrome 609460 Publications for gene KIF1BP were changed from Brooks et al (2005) Am J Hum Genet 77: 120_126 to 15883926; 28277559

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to KIF1BP. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

KIF1BP was added to Genetic Epilepsy Syndromes panel. Sources: UKGTN,Expert Review Green

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

KIF1BP was created by Sarah Leigh