Genomics England
GMS Panels
Panels
Genes and Entities

INF2

inverted formin, FH2 and WH2 domain containing
OMIM: 610982
PanelMode of inheritanceDetails
3 panels
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot Marie Tooth disease, dominant intermediate E, 614455
Green
in Proteinuric renal disease
R-numbers: R195
Signed-off version 4.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glomerulosclerosis, focal segmental, 5 #613237, Adult onset nephrotic syndrome (+CMT), FSGS, proteinuria, renal failure
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glomerulosclerosis, focal segmental, 5 613237, Charcot-Marie-Tooth disease, dominant intermediate E 614455