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  2. BRIDGE_SPEED_NEURO_20170705
  3. KIF1BP
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BRIDGE_SPEED_NEURO_20170705

Gene: KIF1BP

Green List (high evidence)
KIF1BP (KIF1 binding protein)
EnsemblGeneIds (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 KIFBP
Created: 6 Sep 2019, 3:01 p.m. | Last Modified: 6 Sep 2019, 3:01 p.m.
Panel Version: 0.201
Created: 6 Sep 2019, 3:01 p.m.
Last Modified: 6 Sep 2019, 3:01 p.m.
Panel version: 0.201

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: 28 Jul 2017, 9:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 4:29 p.m.

Panel version: 0.191

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome, 609460
Tags
new-gene-name
OMIM
609367
Clinvar variants
Variants in KIF1BP
Penetrance
Complete
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.

5 Nov 2017, Gel status: 3

Changed Gene Name

GEL ()

KIAA1279 was changed to KIF1BP

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

KIAA1279 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

KIAA1279 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green