BSCL2

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

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green BSCL2 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.39 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Silver spastic paraplegia syndrome MIM#270685 Neuropathy, distal hereditary motor, type VA MIM#600794
Red BSCL2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Spastic paraplegia 17, MIM#270685
Green BSCL2 in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lipodystrophy, congenital generalized, type 2, MIM# 269700 MONDO:0010020 Encephalopathy, progressive, with or without lipodystrophy, MIM# 615924 MONDO:0014402
Green BSCL2 in Mendeliome Version 1.3512	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, distal hereditary motor, type VC, MIM# 619112 Encephalopathy, progressive, with or without lipodystrophy, MIM#615924 Lipodystrophy, congenital generalized, type 2, MIM# 269700 Silver spastic paraplegia syndrome, MIM# 270685 Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062
Green BSCL2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Encephalopathy, progressive, with or without lipodystrophy, MIM#615924 Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062
Green BSCL2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Encephalopathy, progressive, with or without lipodystrophy 615924
Green BSCL2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes congenital generalized lipodystrophy type 2 MONDO:0010020
Green BSCL2 in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.15 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Silver spastic paraplegia syndrome, 270685 HSP 17, MONDO:0010043
Green BSCL2 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.102 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Silver spastic paraplegia syndrome MIM#270685 Encephalopathy, progressive, with or without lipodystrophy MIM#615924
Green BSCL2 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.68 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neuropathy, distal hereditary motor, type VC, MIM# 619112
Green BSCL2 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.152 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes congenital generalized lipodystrophy type 2 MONDO:0010020 diabetes mellitus MONDO:0005015
Green BSCL2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)
Green BSCL2 in Additional findings_Paediatric Level 2: Screening Version 0.278	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene BabySeq Category A gene Phenotypes Berardinelli-Seip lipodystrophy Lipodystrophy, congenital generalized, type 2, MIM# 269700
Green BSCL2 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Encephalopathy, progressive, with or without lipodystrophy (MIM#615924) Lipodystrophy, congenital generalized, type 2 (MIM#269700)
Green BSCL2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene BabySeq Category A gene Phenotypes Lipodystrophy, congenital generalized, type 2, MIM# 269700 Berardinelli-Seip lipodystrophy Tags treatable endocrine