Genomics England

FTL

ferritin light chain

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Neurodegeneration with brain iron accumulation 3, OMIM:606159
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 6.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Neurodegeneration with brain iron accumulation 3, OMIM:606159
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Hyperferritinemia-cataract syndrome, 600886, Hyperferritinemia Cataract Syndrome, HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.4	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 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME 600886
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
Green in Iron metabolism disorders - NOT common HFE mutations 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