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Gene: TMTC3

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

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Condition that affects neuronal migration causing brain malformations, which are associated with intellectual disability (ID) and epilepsy.

HGNC approved symbol/name: TMTC3
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? N
Gene reported in >3 independent families
Created: 7 Feb 2025, 2:25 a.m. | Last Modified: 7 Feb 2025, 2:25 a.m.
Panel Version: 1.1460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly 8 MIM#617255, MONDO:0014992

Publications

Created: 7 Feb 2025, 2:25 a.m.
Last Modified: 7 Feb 2025, 2:25 a.m.
Panel version: 1.1460

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lissencephaly 8 MIM#617255, MONDO:0014992
OMIM
617218
Clinvar variants
Variants in TMTC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmtc3 has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMTC3 were changed from Lissencephaly 8, 617255 (3), Autosomal recessive to Lissencephaly 8 MIM#617255, MONDO:0014992

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMTC3 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Lissencephaly 8, 617255 (3), Autosomal recessive for gene: TMTC3

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMTC3 was added gene: TMTC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMTC3 were set to Lissencephaly 8, 617255 (3), Autosomal recessive