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Intellectual disability

Gene: KIF1BP

Green List (high evidence)

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

8 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Goldberg-shprintzen megacolon syndrome is associated with ID, microcephaly and Hirschsprung's. Appropriate for inclusion.
Created: 21 Dec 2017, 11:10 a.m.

Olivia Niblock (Genomics England Curator)

Green List (high evidence)

There are more than 3 reported cases in the literature of different variants in this gene being linked to Goldberg-Shprintzen syndrome; a key characteristic of which is intellectual disability. It should be noted that all of the patients were from different consanguineous backgrounds.
Created: 13 Dec 2017, 10:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_gilissen_2014_known . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 7:05 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_known; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for KIF1BP is KIFBP
Created: 6 Sep 2019, 2:57 p.m. | Last Modified: 6 Sep 2019, 2:57 p.m.
Panel Version: 2.1022
Comment on phenotypes: added MIM id
Created: 21 Dec 2017, 4:42 p.m.
added new-gene-name tag, new approved HGNC gene symbol is KIF1BP
Created: 13 Jun 2017, 11:30 a.m.

Ellen McDonagh (Genomics England Curator)

Previous symbol was KIAA1279.
Created: 23 Feb 2016, 12:02 p.m.

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Confirmed DD gene
Created: 7 Feb 2016, 9:31 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome, 609460
Tags
new-gene-name
OMIM
609367
Clinvar variants
Variants in KIF1BP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

4 Jan 2018, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene KIF1BP was set to ['28277559']

21 Dec 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KIF1BP were set to Goldberg-Shprintzen megacolon syndrome, 609460

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: Intellectual disability

8 Dec 2016, Gel status: 4

Changed Gene Name

Ellen McDonagh (Genomics England Curator)

KIF1BP was changed to KIAA1279

7 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

7 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

1 Feb 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene KIF1BP were set to Goldberg-Shprintzen megacolon syndrome

1 Feb 2016, Gel status: 4

Changed Gene Name

Ellen McDonagh (Genomics England Curator)

KIAA1279 was changed to KIF1BP

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Changed Gene Name

Ellen McDonagh (Genomics England Curator)

KIF1BP* was changed to KIF1BP

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KIF1BP* was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KIF1BP* was created by ellenmcdonagh