Cobblestone Malformations
Gene: TMTC3

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)

Green List (high evidence)

Associated with cobblestone lissencephaly in 6 unrelated families with biallelic variants (PMID: 27773428). Most affected individuals also showed brainstem and cerebellum hypoplasia, as well as ventriculomegaly. One individual had polymicrogyria.

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

Panel Version: 0.5

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, 6:24 a.m.
Last Modified: 24 Aug 2020, 6:28 a.m.
Panel version: 0.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Brain Malformations Flagship

Phenotypes

Lissencephaly 8 (MIM#617255)

OMIM

617218

Clinvar variants

Variants in TMTC3

Penetrance

None

Publications

Panels with this gene