Anophthalmia_Microphthalmia_Coloboma
Gene: TENM3EnsemblGeneIds (GRCh38): ENSG00000218336
EnsemblGeneIds (GRCh37): ENSG00000218336
OMIM: 610083, Gene2Phenotype
TENM3 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least four unrelated families described with syndromic microphthalmia and bi-allelic variants in this gene.
Sources: LiteratureCreated: 14 Dec 2019, 2:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, syndromic 15, MIM#615145; coloboma
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Microphthalmia, syndromic 15, MIM#615145
- coloboma
- OMIM
- 610083
- Clinvar variants
- Variants in TENM3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tenm3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tenm3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TENM3 was added gene: TENM3 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Literature 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