Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Atypical haemolytic uraemic syndrome v1.16 | INF2 | Eleanor Williams Phenotypes for gene: INF2 were changed from to Charcot-Marie-Tooth disease, dominant intermediate E, 614455; Glomerulosclerosis, focal segmental, 5, 613237 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Atypical haemolytic uraemic syndrome v1.15 | INF2 | Eleanor Williams Publications for gene: INF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Atypical haemolytic uraemic syndrome v1.14 | INF2 | Eleanor Williams Mode of inheritance for gene: INF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Atypical haemolytic uraemic syndrome v1.9 | INF2 | David Kavanagh reviewed gene: INF2: Rating: RED; Mode of pathogenicity: None; Publications: 27974406; Phenotypes: FSGS MIM 613237, CHT MIM 614455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Atypical haemolytic uraemic syndrome v1.7 | INF2 | Eleanor Williams reviewed gene: INF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Atypical haemolytic uraemic syndrome v1.6 | INF2 |
Eleanor Williams gene: INF2 was added gene: INF2 was added to Atypical haemolytic uraemic syndrome. Sources: NHS GMS Mode of inheritance for gene: INF2 was set to |