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Regression

Gene: BSCL2

Green List (high evidence)

BSCL2 (BSCL2, seipin lipid droplet biogenesis associated)
EnsemblGeneIds (GRCh38): ENSG00000168000
EnsemblGeneIds (GRCh37): ENSG00000168000
OMIM: 606158, Gene2Phenotype
BSCL2 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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 Review
Created: 29 Dec 2020, 1:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, progressive, with or without lipodystrophy 615924

Publications

History Filter Activity

29 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bscl2 has been classified as Green List (High Evidence).

29 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bscl2 has been classified as Green List (High Evidence).

29 Dec 2020, Gel status: 1

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