Genomics England

FTL

ferritin light chain

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 8.5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Hyperferritinemia-cataract syndrome, OMIM:600886, L-ferritin deficiency, dominant and recessive, OMIM:615604
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME 600886
Green in Dystonia, chorea or related movement disorder, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Neurodegeneration with brain iron accumulation 3, OMIM:606159
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Neurodegeneration with brain iron accumulation 3 606159
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	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 4.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Hyperferritinemia-cataract syndrome, OMIM:600886, L-ferritin deficiency, dominant and recessive, OMIM:615604, Neurodegeneration with brain iron accumulation 3, OMIM:606159
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Neurodegeneration with brain iron accumulation 3, OMIM:606159