Activity
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12 actions
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| Fetal anomalies v5.78 | TOGARAM1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TOGARAM1. Tag Q1_25_ promote_green was removed from gene: TOGARAM1. |
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| Fetal anomalies v5.78 | TOGARAM1 | Achchuthan Shanmugasundram edited their review of gene: TOGARAM1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | TOGARAM1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TOGARAM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | TOGARAM1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TOGARAM1. Tag Q1_25_ promote_green tag was added to gene: TOGARAM1. |
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| Fetal anomalies v5.69 | TOGARAM1 | Achchuthan Shanmugasundram Phenotypes for gene: TOGARAM1 were changed from Joubert syndrome 37, OMIM:619185; Cleft of the lip and palate; Hydrocephalus; Microphthalmia; Cerebral dysgenesis to Joubert syndrome 37, OMIM:619185 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | TOGARAM1 | Achchuthan Shanmugasundram commented on gene: TOGARAM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | TOGARAM1 | Sarah Graham reviewed gene: TOGARAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32453716, 32747439; Phenotypes: Joubert syndrome 37, MIM#619185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | TOGARAM1 |
Achchuthan Shanmugasundram Source NHS GMS was added to TOGARAM1. Source Expert Review Amber was added to TOGARAM1. Added phenotypes Joubert syndrome 37, OMIM:619185 for gene: TOGARAM1 Publications for gene: TOGARAM1 were updated from 32747439 to 32453716; 32747439 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v1.95 | TOGARAM1 | Arina Puzriakova Classified gene: TOGARAM1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.95 | TOGARAM1 | Arina Puzriakova Added comment: Comment on list classification: Single family. Additional cases required to corroborate pathogenicity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.95 | TOGARAM1 | Arina Puzriakova Gene: togaram1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.94 | TOGARAM1 |
Arina Puzriakova gene: TOGARAM1 was added gene: TOGARAM1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOGARAM1 were set to 32747439 Phenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus Added comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene. Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding. Sources: Literature |
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