Genomics England

BSCL2

BSCL2, seipin lipid droplet biogenesis associated

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 4.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Silver spastic paraplegia syndrome, OMIM:270685, Neuropathy, distal hereditary motor, type VC, OMIM:619112
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Silver spastic paraplegia syndrome, OMIM:270685, Neuropathy, distal hereditary motor, type VC, OMIM:619112
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 4.11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Neuropathy, distal hereditary motor, type VC, OMIM:619112
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924, Lipodystrophy, congenital generalized, type 2, OMIM:269700
Green in Neonatal diabetes R-numbers: R143 Signed-off version 4.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital generalised lipodystrophy, severe insulin resistance and diabetes, Neonatal diabetes and generalised lipodystrophy, Lipodystrophy, congenital generalized, type 2, OMIM:269700
Green in Severe insulin resistance and lipodystrophy syndromes R-numbers: R158 Signed-off version 4.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Lipodystrophy, congenital generalized, type 2, OMIM:269700, Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924