Severe microcephaly

Gene: KIF1BP

Green List (high evidence)

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

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Green
Created: 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)

Green List (high evidence)

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)
OMIM
609367
Clinvar variants
Variants in KIF1BP
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to KIF1BP.

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: Primary Microcephaly - Microcephalic Dwarfism Spectrum

2 Mar 2017, Gel status: 4

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.

7 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

7 Feb 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for KIAA1279 was changed to BIALLELIC, autosomal or pseudoautosomal

30 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

KIAA1279 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

30 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

KIAA1279 was created by rfoulger