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Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 6 unrelated families reported.
Created: 24 Aug 2020, 8:45 a.m. | Last Modified: 24 Aug 2020, 8:45 a.m.
Panel Version: 0.2867

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly 8 (MIM#617255)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
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: 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).

24 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMTC3 were changed from to Lissencephaly 8 (MIM#617255)

24 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMTC3 were set to

24 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TMTC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMTC3 was added gene: TMTC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMTC3 was set to Unknown