Severe microcephaly

Gene: TUBG1

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 3 p.m. | Last Modified: 1 Feb 2023, 3 p.m.

Panel Version: 3.5

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least 11 patients with heterozygous variants in this gene have been reported in literature to date (PMIDs: 23603762; 24860126; 29706637; 31151415). Microcephaly is a predominant feature of the phenotype in majority of cases and severity is within the scope of this panel.

Created: 27 Jul 2022, 9:30 a.m. | Last Modified: 27 Jul 2022, 9:30 a.m.

Panel Version: 2.308

Green List (high evidence)

Variant has been reported in number of individuals presenting with microcephaly by Poirier et al 2013, and Yuen et al 2019. All reported variants are missense. Identified individuals through GMS presenting with microcephaly prenatally who have pathogenic variants in this gene identified postnatally. Gene now present on fetal anomalies panel.
Sources: NHS GMS

Created: 24 Jun 2022, 3:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• 23603762
• 31151415

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments