Structural eye disease
Gene: SEMA3E
Lalani et al. published case with CHARGE syndrome including iris coloboma with a de novo missense mutation in SEMA3E as well as balanced translocation - not convincing. Liu et al. published a zebrafish knockout with small eyes.Created: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.
Panel Version: 1.29
FC - only 1 case with CHARGE syndrome including coloboma with a de novo missense mutation in SEMA3E - DB is not fully convinced. Detailed phenotype not availableCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE; 214800
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - only 1 case with CHARGE syndrome including coloboma with a de novo missense mutation in SEMA3E - DB is not fully convinced. Detailed phenotype not availableCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE; 214800
Publications for gene: SEMA3E were set to
gene: SEMA3E was added gene: SEMA3E was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: SEMA3E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SEMA3E were set to CHARGE, 214800