Severe microcephaly
Gene: TUBGCP6
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
Recognised on G2P. Listed on genereviews as a differential of primary AR microcephalyCreated: 12 Jan 2017, 9:51 a.m.
Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 1 251270
Publications
Source NHS GMS was added to TUBGCP6.
Publications for TUBGCP6 were set to 25344692; 22279524
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.
This gene has been classified as Green List (High Evidence).
Publications for TUBGCP6 were set to 25344692
This gene has been classified as Green List (High Evidence).
TUBGCP6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN
TUBGCP6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen
TUBGCP6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal
TUBGCP6 was created by rfoulger
TUBGCP6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list