Activity
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6 actions
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| Periventricular Grey Matter Heterotopia v0.14 | TMTC3 | Zornitza Stark Marked gene: TMTC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.14 | TMTC3 | Zornitza Stark Gene: tmtc3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.14 | TMTC3 | Zornitza Stark Classified gene: TMTC3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.14 | TMTC3 | Zornitza Stark Gene: tmtc3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.10 | TMTC3 |
Paul De Fazio changed review comment from: Mostly associated with cobblestone lissencephaly in (6 unrelated families with biallelic variants, PMID: 27773428). However in 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular hetertopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment. Although I thought it worth having this gene on this panel I have rated it Red as it is a single family reported with this phenotype, with not all members affected, and it is a different phenotype to that reported previously (i.e. very much 'low evidence'). Sources: Literature; to: Mostly associated with cobblestone lissencephaly in (6 unrelated families with biallelic variants, PMID: 27773428). However in 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular heterotopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment. Although I thought it worth having this gene on this panel I have rated it Red as it is a single family reported with this phenotype, with not all members affected, and it is a different phenotype to that reported previously (i.e. very much 'low evidence'). Sources: Literature |
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| Periventricular Grey Matter Heterotopia v0.10 | TMTC3 |
Paul De Fazio gene: TMTC3 was added gene: TMTC3 was added to Periventricular Grey Matter Heterotopia. Sources: Literature Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMTC3 were set to 27773428; 28973161 Phenotypes for gene: TMTC3 were set to Lissencephaly 8 (MIM#617255) Review for gene: TMTC3 was set to RED gene: TMTC3 was marked as current diagnostic Added comment: Mostly associated with cobblestone lissencephaly in (6 unrelated families with biallelic variants, PMID: 27773428). However in 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular hetertopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment. Although I thought it worth having this gene on this panel I have rated it Red as it is a single family reported with this phenotype, with not all members affected, and it is a different phenotype to that reported previously (i.e. very much 'low evidence'). Sources: Literature |
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