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  3. TMTC3
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Periventricular Grey Matter Heterotopia

Gene: TMTC3

Red List (low evidence)
TMTC3 (transmembrane and tetratricopeptide repeat containing 3)
EnsemblGeneIds (GRCh38): ENSG00000139324
EnsemblGeneIds (GRCh37): ENSG00000139324
OMIM: 617218, Gene2Phenotype
TMTC3 is in 9 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

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
Created: 24 Aug 2020, 6:28 a.m. | Last Modified: 24 Aug 2020, 6:28 a.m.
Panel Version: 0.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly 8 (MIM#617255)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Aug 2020, 6:28 a.m.
Last Modified: 24 Aug 2020, 6:28 a.m.
Panel version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Lissencephaly 8 (MIM#617255)
OMIM
617218
Clinvar variants
Variants in TMTC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmtc3 has been classified as Red List (Low Evidence).

24 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmtc3 has been classified as Red List (Low Evidence).

24 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Paul De Fazio (Victorian Clinical Genetics Services)

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