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| Severe microcephaly v3.5 | TUBG1 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: TUBG1. Tag Q3_22_NHS_review was removed from gene: TUBG1. |
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| Severe microcephaly v3.5 | TUBG1 | Arina Puzriakova edited their review of gene: TUBG1: Added comment: 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.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.4 | TUBG1 |
Arina Puzriakova Source Expert Review Green was added to TUBG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.309 | TUBG1 | Arina Puzriakova Publications for gene: TUBG1 were set to 23603762; 31151415 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.308 | TUBG1 | Arina Puzriakova Classified gene: TUBG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.308 | TUBG1 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.308 | TUBG1 | Arina Puzriakova Gene: tubg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.307 | TUBG1 | Arina Puzriakova Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, OMIM:615412 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.306 | TUBG1 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: TUBG1. Tag Q3_22_NHS_review tag was added to gene: TUBG1. |
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| Severe microcephaly v2.304 | TUBG1 |
Gavin Ryan 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 Added comment: 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 |
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