Severe microcephaly
Gene: TUBG1
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
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 GMSCreated: 24 Jun 2022, 3:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Tag Q3_22_rating was removed from gene: TUBG1. Tag Q3_22_NHS_review was removed from gene: TUBG1.
Source Expert Review Green was added to TUBG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: TUBG1 were set to 23603762; 31151415
Gene: tubg1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, OMIM:615412
Tag Q3_22_rating tag was added to gene: TUBG1. Tag Q3_22_NHS_review tag was added to gene: TUBG1.
gene: TUBG1 was added gene: TUBG1 was added to Severe microcephaly. Sources: NHS GMS Mode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBG1 were set to 23603762; 31151415 Penetrance for gene: TUBG1 were set to unknown Mode of pathogenicity for gene: TUBG1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: TUBG1 was set to GREEN