Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Structural eye disease v1.43 | TENM3 | Arina Puzriakova Phenotypes for gene: TENM3 were changed from Microphthalmia, isolated, with coloboma 9, 615145 to Microphthalmia, syndromic 15, OMIM:615145; ?Microphthalmia, isolated, with coloboma 9, OMIM:615145; Microphthalmia, isolated, with coloboma 9, MONDO:0014059 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.9 | TENM3 | Arina Puzriakova reviewed gene: TENM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22766609, 27103084, 30513139, 29753094; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.76 | TENM3 | Nicola Ragge reviewed gene: TENM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22766609, 27103084, 24859618, 29753094, 30513139; Phenotypes: Microphthalmia, isolated, with coloboma 9, 615145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.48 | TENM3 | Ivone Leong edited their review of gene: TENM3: Changed phenotypes: Microphthalmia, isolated, with coloboma 9, 615145 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | TENM3 | Ivone Leong reviewed gene: TENM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22766609, 27103084, 24859618, 29753094, 30513139; Phenotypes: Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.20 | TENM3 | Ivone Leong Phenotypes for gene: TENM3 were changed from Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, isolated, with coloboma 9, 615145 to Microphthalmia, isolated, with coloboma 9, 615145 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | TENM3 |
Ivone Leong Source NHS GMS was added to TENM3. Source Expert Review Green was added to TENM3. Added phenotypes Microphthalmia, isolated, with coloboma 9, 615145 for gene: TENM3 Publications for gene TENM3 were changed from 22766609, 27103084, 24859618 to 30513139; 24859618; 29753094; 27103084; 22766609 Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.2 | TENM3 |
Ellen McDonagh gene: TENM3 was added gene: TENM3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TENM3 were set to 22766609, 27103084, 24859618 Phenotypes for gene: TENM3 were set to Microphthalmia, isolated, with coloboma 9, 615145 |