Severe microcephaly
Gene: TUBGCP4
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
Mutations in at least three families. Zebrafish model. Probable DD on G2PCreated: 12 Jan 2017, 9:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 3 616335
Publications
Source NHS GMS was added to TUBGCP4.
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).
This gene has been classified as Green List (High Evidence).
Publications for TUBGCP4 were set to 25817018
This gene has been classified as Green List (High Evidence).
TUBGCP4 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen
TUBGCP4 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
TUBGCP4 was created by rfoulger