Lipodystrophy_Lipoatrophy
Gene: BSCL2EnsemblGeneIds (GRCh38): ENSG00000168000
EnsemblGeneIds (GRCh37): ENSG00000168000
OMIM: 606158, Gene2Phenotype
BSCL2 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Bi-allelic variants in this gene are associated with both isolated and syndromic lipodystrophy, multiple families reported.Created: 26 Apr 2021, 10:44 a.m. | Last Modified: 26 Apr 2021, 10:44 a.m.
Panel Version: 0.31
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lipodystrophy, congenital generalized, type 2, MIM# 269700; MONDO:0010020; Encephalopathy, progressive, with or without lipodystrophy, MIM# 615924; MONDO:0014402
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 606158
- Clinvar variants
- Variants in BSCL2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Monogenic Diabetes
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Genetic Epilepsy
- Motor Neurone Disease
- Regression
- Hereditary Spastic Paraplegia - adult onset
- Additional findings_Paediatric
- Lipodystrophy_Lipoatrophy
- Mendeliome
- Hereditary Spastic Paraplegia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bscl2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BSCL2 were changed from to Lipodystrophy, congenital generalized, type 2, MIM# 269700; MONDO:0010020; Encephalopathy, progressive, with or without lipodystrophy, MIM# 615924; MONDO:0014402
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: BSCL2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: BSCL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BSCL2 was added gene: BSCL2 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BSCL2 was set to Unknown