Monogenic Diabetes
Gene: BSCL2EnsemblGeneIds (GRCh38): ENSG00000168000
EnsemblGeneIds (GRCh37): ENSG00000168000
OMIM: 606158, Gene2Phenotype
BSCL2 is in 15 panels
1 review
Hali Van Niel (University of Melbourne)
well established gene for recessive Berardinelli-siep syndrome type 2
diabetes mellitus common complication for lipodystrophyCreated: 30 Apr 2024, 3:56 a.m. | Last Modified: 30 Apr 2024, 3:56 a.m.
Panel Version: 0.52
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital generalized lipodystrophy type 2 MONDO:0010020; diabetes mellitus MONDO:0005015
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- congenital generalized lipodystrophy type 2 MONDO:0010020
- diabetes mellitus MONDO:0005015
- 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 Berardinelli-Seip congenital lipodystrophy to congenital generalized lipodystrophy type 2 MONDO:0010020; diabetes mellitus MONDO:0005015
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: BSCL2 were set to 11479539
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BSCL2 was added gene: BSCL2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BSCL2 were set to 11479539 Phenotypes for gene: BSCL2 were set to Berardinelli-Seip congenital lipodystrophy