Severe microcephaly
Gene: KIF1BPEnsemblGeneIds (GRCh38): ENSG00000198954
EnsemblGeneIds (GRCh37): ENSG00000198954
OMIM: 609367, Gene2Phenotype
KIF1BP is in 8 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for KIF1BP is KIFBPCreated: 6 Sep 2019, 3 p.m. | Last Modified: 6 Sep 2019, 3 p.m.
Panel Version: 1.72
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Green: 1 green expert review plus confirmed DD-G2P gene for Goldberg-Shprintzen megacolon syndrome (MIM:609460), which includes microcephaly. >3 unrelated cases in OMIM of mutations causing MIM:609460.Created: 7 Feb 2017, 10:29 a.m.
Confirmed DD-G2P gene for Goldberg-Shprintzen megacolon syndrome, 609460.Created: 7 Feb 2017, 10:27 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed on OMIM and DD-G2P.Created: 7 Feb 2017, 10:27 a.m.
Added 'New gene name' tag because the current HGNC symbol for KIAA1279 is KIF1BP.Created: 30 Jan 2017, 12:28 p.m.
emma baple (South West GMC)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Other
- Phenotypes
-
- Goldberg-Shprintzen megacolon syndrome, 609460 (Microcephaly)
- Tags
- OMIM
- 609367
- Clinvar variants
- Variants in KIF1BP
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: KIF1BP.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to KIF1BP.
Changed Gene Name
GEL ()KIAA1279 was changed to KIF1BP
Removed Tag
GEL ()new-gene-name was removed from KIAA1279. Panel: Primary Microcephaly - Microcephalic Dwarfism Spectrum
panel promoted to version 1
Rebecca Foulger (Genomics England curator)2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for KIAA1279 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Rebecca Foulger (Genomics England curator)KIAA1279 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)KIAA1279 was created by rfoulger