Regression
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)
Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade. Patients may show a mild or typical lipodystrophic appearance.
At least 5 unrelated families reported. The recurrent c.985C-T variant causes skipping of exon 7 (founder effect).
Sources: Expert ReviewCreated: 29 Dec 2020, 1:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, with or without lipodystrophy 615924
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Encephalopathy, progressive, with or without lipodystrophy 615924
- 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).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bscl2 has been classified as Green List (High Evidence).
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 Regression. Sources: Expert Review Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BSCL2 were set to 23564749; 27452399 Phenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy 615924 Review for gene: BSCL2 was set to GREEN