FTL

ferritin light chain
OMIM: 134790
PanelMode of inheritanceDetails
7 panels
R-numbers: R56
Signed-off version 1.121
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodegeneration with brain iron accumulation 3, OMIM:606159
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hyperferritinemia-cataract syndrome, 600886, Hyperferritinemia Cataract Syndrome, HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
R-numbers: R57
Signed-off version 1.137
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodegeneration with brain iron accumulation 3 606159
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME 600886
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
R-numbers: R96
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NBIA3, 615604 L-FERRITIN DEFICIENCY, LFTD, 600886 Hyperferritinemia-cataract syndrome, HRFTC, 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT, 615604 L-ferritin deficiency, dominant and recessive, 606159 Neurodegeneration with brain iron accumulation 3, 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
R-numbers: R58
Signed-off version 2.178
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodegeneration with brain iron accumulation 3, OMIM:606159