BSCL2

BSCL2, seipin lipid droplet biogenesis associated
OMIM: 606158
PanelMode of inheritanceDetails
7 panels
R-numbers: R143
Signed-off version 3.1
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
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924
R-numbers: R78
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, distal hereditary motor, type VC, OMIM:619112
R-numbers: R60
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Silver spastic paraplegia syndrome, OMIM:270685, Neuropathy, distal hereditary motor, type VC, OMIM:619112
R-numbers: R61
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Silver spastic paraplegia syndrome, OMIM:270685, Neuropathy, distal hereditary motor, type VC, OMIM:619112
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924, Lipodystrophy, congenital generalized, type 2, OMIM:269700
R-numbers: R158
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lipodystrophy, congenital generalized, type 2, OMIM:269700, Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924