Severe microcephaly

Gene: TUBGCP3

Red List (low evidence)

TUBGCP3 (tubulin gamma complex associated protein 3)
EnsemblGeneIds (GRCh38): ENSG00000126216
EnsemblGeneIds (GRCh37): ENSG00000126216
TUBGCP3 is in 1 panel

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11thJuly 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
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)

TUBGCP3 not present in OMIM at time of curation, and insufficient evidence to link to microcephaly.
Created: 20 Feb 2017, 2:56 p.m.

Details

Sources
  • NHS GMS
  • Expert list
Phenotypes
  • MCPH
  • primary microcephaly
Clinvar variants
Variants in TUBGCP3
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TUBGCP3.

2 Mar 2017, Gel status: 0

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.

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

TUBGCP3 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

TUBGCP3 was created by rfoulger