BSCL2

BSCL2, seipin lipid droplet biogenesis associated
OMIM: 606158
PanelMode of inheritanceDetails
7 panels
R-numbers: R143
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital generalised lipodystrophy, severe insulin resistance and diabetes, Neonatal diabetes and generalised lipodystrophy, Lipodystrophy, congenital generalized, type 2, 269700
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intractable epilepsy and neurological regression, Encephalopathy, progressive, with or without lipodystrophy 615924, Lipodystrophy, congenital generalized, type 2 269700, Neuropathy, distal hereditary motor, type VA 600794, Silver spastic paraplegia syndrome 270685
R-numbers: R78
Signed-off version 1.36
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, distal hereditary motor, type VC, OMIM:619112
R-numbers: R60
Signed-off version 1.27
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Silver spastic paraplegia syndrome, OMIM:270685
R-numbers: R61
Signed-off version 2.18
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Silver spastic paraplegia syndrome, 270685
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, with or without lipodystrophy 615924, Lipodystrophy, congenital generalized, type 2 269700, Neuropathy, distal hereditary motor, type VA 600794, Silver spastic paraplegia syndrome 270685
R-numbers: R158
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lipodystrophy, congenital generalized, type 2, 269700