BSCL2

BSCL2, seipin lipid droplet biogenesis associated
OMIM: 606158, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green BSCL2 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Lipodystrophy, congenital generalized, type 2, OMIM:269700
Green BSCL2 in Insulin resistance (including lipodystrophy) Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.16	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Lipodystrophy, congenital generalized, type 2, OMIM:269700 Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924
Red BSCL2 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	Unknown	Sources Expert Review Red
Green BSCL2 in Neonatal diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Congenital generalised lipodystrophy, severe insulin resistance and diabetes Neonatal diabetes and generalised lipodystrophy Lipodystrophy, congenital generalized, type 2, OMIM:269700
Green BSCL2 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Lipodystrophy, congenital generalized, type 2, OMIM:269700
Green BSCL2 in Lipodystrophy - childhood onset Version 4.50 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Phenotypes Lipodystrophy, congenital generalized, type 2, OMIM:269700 Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924
No list BSCL2 in Monogenic diabetes Version 2.57 Latest signed off version: v2.2 (25 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Lipodystrophy, congenital generalized, type 2, OMIM:269700 Tags curated_removed
Green BSCL2 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list UKGTN Radboud University Medical Center, Nijmegen Phenotypes Silver spastic paraplegia syndrome, OMIM:270685
Green BSCL2 in Childhood onset hereditary spastic paraplegia Version 4.43 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Expert list UKGTN Radboud University Medical Center, Nijmegen Phenotypes Silver spastic paraplegia syndrome, OMIM:270685 Neuropathy, distal hereditary motor, type VC, OMIM:619112
Green BSCL2 in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Silver spastic paraplegia syndrome, OMIM:270685 Neuropathy, distal hereditary motor, type VC, OMIM:619112
Red BSCL2 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Silver spastic paraplegia syndrome, OMIM:270685
Red BSCL2 in Paediatric motor neuronopathies Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 3.6 Latest signed off version: v3.3 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	Not set	Sources Expert Review Red Expert
Green BSCL2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory UKGTN Expert list Phenotypes Neuropathy, distal hereditary motor, type VC, OMIM:619112
Green BSCL2 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.195 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Literature Expert Review Green Expert Review Green Literature Phenotypes Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924
Green BSCL2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.536 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924 Lipodystrophy, congenital generalized, type 2, OMIM:269700
Green BSCL2 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH NHS GMS South West GLH NHS GMS London North GLH Phenotypes Neuropathy, distal hereditary motor, type VC, OMIM:619112
Green BSCL2 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924 Silver spastic paraplegia syndrome, 270685 Lipodystrophy, congenital generalized, type 2, 269700 Neuropathy, distal hereditary motor, type VA, 600794