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Hearing loss

Gene: BCS1L

Green List (high evidence)

BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone)
EnsemblGeneIds (GRCh38): ENSG00000074582
EnsemblGeneIds (GRCh37): ENSG00000074582
OMIM: 603647, Gene2Phenotype
BCS1L is in 20 panels

4 reviews

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

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: Mitochondrial
Created: 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 expert
Created: 1 Feb 2016, 4:51 p.m.

History Filter Activity

17 Feb 2016, Gel status: 4

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

17 Feb 2016, Gel status: 4

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

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for BCS1L was changed to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for BCS1L was changed to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BCS1L was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert