Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Intellectual disability v3.1511 TENM3 Arina Puzriakova Tag for-review was removed from gene: TENM3.
Intellectual disability v3.1510 TENM3 Sarah Leigh commented on gene: TENM3
Intellectual disability v3.1509 TENM3 Arina Puzriakova Source Expert Review Green was added to TENM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.741 TENM3 Arina Puzriakova Phenotypes for gene: TENM3 were changed from Microphthalmia, syndromic 15, MIM#615145; coloboma to Microphthalmia, syndromic 15, OMIM:615145; ?Microphthalmia, isolated, with coloboma 9, OMIM:615145; Microphthalmia, isolated, with coloboma 9, MONDO:0014059
Intellectual disability v3.263 TENM3 Arina Puzriakova Classified gene: TENM3 as Amber List (moderate evidence)
Intellectual disability v3.263 TENM3 Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - sufficient unrelated cases with an ID phenotype.
Intellectual disability v3.263 TENM3 Arina Puzriakova Gene: tenm3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.262 TENM3 Arina Puzriakova Tag for-review tag was added to gene: TENM3.
Intellectual disability v3.262 TENM3 Arina Puzriakova reviewed gene: TENM3: Rating: ; Mode of pathogenicity: None; Publications: 22766609, 27103084, 30513139, 29753094; Phenotypes: Microphthalmia, syndromic 15, 615145, ?Microphthalmia, isolated, with coloboma 9, 615145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.3 TENM3 Zornitza Stark 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
Added comment: 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