Mitochondrial disease

Gene: BCS1L

Green List (high evidence)

Phenotypes reported in association with pathogenic BCS1L variants include Leigh syndrome; growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death (GRACILE syndrome); and Björnstad syndrome, characterized by abnormal flattening and twisting of hair shafts (pili torti) and hearing problems.

Created: 8 Jan 2021, 10:09 a.m. | Last Modified: 8 Jan 2021, 10:09 a.m.

Panel Version: 0.6022

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease

Publications

• 26563427
• 24172246
• 17314340

Green List (high evidence)

Clinical severity depends on amount of reactive oxygen species produced in different complexes, proven by different missense variants (PMID: 17314340).
Bjornstad (complex I) < complex III deficiency/GRACILE syndrome (complex III)

Created: 8 Jan 2021, 1:55 a.m. | Last Modified: 8 Jan 2021, 1:55 a.m.

Panel Version: 0.6019

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type MIM#1124000

Publications

• PMID: 17314340

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Bjornstad syndrome has Anhidrosis and pili torti as features.

Created: 9 Mar 2020, 9:19 a.m. | Last Modified: 9 Mar 2020, 9:19 a.m.

Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bjornstad syndrome MIM#262000

Publications

• 24172246
• 17314340
• 9545407