FTL

ferritin light chain
OMIM: 134790
PanelMode of inheritanceDetails
7 panels
R-numbers: R56
Signed-off version 3.19
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodegeneration with brain iron accumulation 3, OMIM:606159
R-numbers: R58
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodegeneration with brain iron accumulation 3, OMIM:606159
R-numbers: R31
Signed-off version 4.14
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 4.3
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 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME 600886
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
R-numbers: R96
Signed-off version 2.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperferritinemia-cataract syndrome OIMM:600886, L-ferritin deficiency, dominant and recessive OMIM:615604, Neurodegeneration with brain iron accumulation 3 OMIM:606159