Monogenic hearing loss
Gene: BCS1LEnsemblGeneIds (GRCh38): ENSG00000074582
EnsemblGeneIds (GRCh37): ENSG00000074582
OMIM: 603647, Gene2Phenotype
BCS1L is in 20 panels
4 reviews
Maria Bitner-Glindzicz (UCL)
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on OMIM.Created: 17 Feb 2016, 12:02 p.m.
Jun Shen (Harvard Medical School)
Inheritance: MitochondrialCreated: 7 Feb 2016, 5:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#124000:Mitochondrial complex III deficiency, nuclear type 1[Failure to thrivePoor prenatal growthPoor postnatal growth; Deafness (in some patients); Cataracts (rare); Decreased liver functionBiopsy shows fibrosisCholestasisCholangitisHepatosiderosisMicrovesicular steatosisDecreased complex III activity in liver tissue; Poor feeding; Tubulointerstitial nephritisRenal tubulopathy; Brittle hair (in some patients); HypotoniaMuscle weaknessRagged red fibers seen on muscle biopsyDecreased mitochondrial complex III activityOther mitochondrial complex enzyme activities may also be decreased; Delayed psychomotor developmentMental retardationMitochondrial encephalopathyHyperreflexiaSpasticityMotor dysfunctionSeizuresAbnormal EEGCerebral atrophyCerebellar atrophyWhite matter lesions may occur in the thalami, basal ganglia, and periventricular white matter (see Leigh syndrome,); Lactic acidosisMetabolic acidosisHypoglycemia; Coagulation defect due to decreased liver function; Increased serum lactateAbnormal liver function testsAminoaciduriaDecreased respiratory chain complex III activity in multiple tissues]; #256000:Leigh syndrome[Failure to thrive; OphthalmoplegiaOptic atrophyNystagmusStrabismusPtosisPigmentary retinopathy; Abnormal respiratory patternsRespiratory failure; Hypertrichosis; Hypotonia; Psychomotor retardationHypotoniaAtaxiaDystoniaDysarthriaSpasticityHyperreflexiaSeizuresBrainstem abnormalitiesMental retardationLesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation; Emotional lability; Lactic acidosis; Increased serum lactateIncreased CSF lactate]; #262000:Bjornstad syndrome[Hearing loss, sensorineural progressive; Light-colored eyes; Hypogonadism (in some patients); Anhidrosis; Pili tortiLoss of hairSparse, short hair growthBrittle hairHair lacks pigment; Mental retardation (in some patients)]
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from OMIM and expertCreated: 1 Feb 2016, 4:51 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Phenotypes
-
- #124000:Mitochondrial complex III deficiency, nuclear type 1
- #256000:Leigh syndrome
- #262000:Bjornstad syndrome
- #603358:GRACILE syndrome
- OMIM
- 603647
- Clinvar variants
- Variants in BCS1L
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Neonatal cholestasis
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Structural basal ganglia disorders
- Cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Mitochondrial liver disease, including transient infantile liver failure
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex III deficiency
- Mitochondrial disorders
- Intellectual disability
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BCS1L were set to #124000:Mitochondrial complex III deficiency, nuclear type 1; #256000:Leigh syndrome; #262000:Bjornstad syndrome; #603358:GRACILE syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for BCS1L were set to PMID:10508156; 11528392; 12215968; 12910490; 17314340; 17403714; 19162478; 19508421; 24172246; 7577396; 9545407; 9792866; 9878253
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for BCS1L was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for BCS1L was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)BCS1L was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert