Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Structural eye disease v0.76 | SEMA4A | Nicola Ragge reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 35, Cone-rod dystrophy 10, 610282, 610283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.48 | SEMA4A | Ivone Leong edited their review of gene: SEMA4A: Changed phenotypes: Retinitis pigmentosa 35, 610282, Cone-rod dystrophy 10, 610283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | SEMA4A | Ivone Leong reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Holoprosencephaly 2, 157170; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | SEMA4A |
Ivone Leong Source NHS GMS was added to SEMA4A. Mode of inheritance for gene SEMA4A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282 for gene: SEMA4A |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.2 | SEMA4A |
Ellen McDonagh gene: SEMA4A was added gene: SEMA4A was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: SEMA4A was set to Phenotypes for gene: SEMA4A were set to Eye Disorders |