Renal Tubulopathies and related disorders
Gene: BCS1L
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
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
Variants in this GENE are reported as part of current diagnostic practice
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
gene: BCS1L was added gene: BCS1L was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCS1L were set to 26563427; 17314340; 24172246 Phenotypes for gene: BCS1L were set to Mitochondrial complex III deficiency, nuclear type MIM#112400; Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358