Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Structural eye disease v0.76 | ATP13A2 | Nicola Ragge reviewed gene: ATP13A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: KUFOR-RAKEB SYNDROME, SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 606693, 617225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | ATP13A2 | Ivone Leong reviewed gene: ATP13A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: KUFOR-RAKEB SYNDROME, 606693, SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 617225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | ATP13A2 |
Ivone Leong Source NHS GMS was added to ATP13A2. Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes KUFOR-RAKEB SYNDROME, 606693; SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 617225 for gene: ATP13A2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.2 | ATP13A2 |
Ellen McDonagh gene: ATP13A2 was added gene: ATP13A2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ATP13A2 was set to Phenotypes for gene: ATP13A2 were set to Eye Disorders |