Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: TENM3

No list

TENM3 (teneurin transmembrane protein 3)
EnsemblGeneIds (GRCh38): ENSG00000218336
EnsemblGeneIds (GRCh37): ENSG00000218336
OMIM: 610083, Gene2Phenotype
TENM3 is in 5 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least four unrelated families described with syndromic microphthalmia and bi-allelic variants in this gene, ID is part of the phenotype.
Sources: Expert list
Created: 1 Mar 2020, 12:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, syndromic 15, MIM#615145; coloboma

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Microphthalmia, syndromic 15, MIM#615145
  • coloboma
OMIM
610083
Clinvar variants
Variants in TENM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TENM3 was added gene: TENM3 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TENM3 were set to 30513139; 22766609; 27103084; 29753094 Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM#615145; coloboma Review for gene: TENM3 was set to GREEN gene: TENM3 was marked as current diagnostic