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Hearing loss

Gene: APOPT1

Red List (low evidence)

APOPT1 (apoptogenic 1, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000256053
EnsemblGeneIds (GRCh37): ENSG00000256053
OMIM: 616003, Gene2Phenotype
APOPT1 is in 11 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for APOPT1 is COA8
Created: 7 May 2019, 1:40 p.m.

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#220110:Mitochondrial complex IV deficiency[Failure to thrive; Hearing loss, sensorineural; Optic atrophyPigmentary retinopathyPtosis; Hypertrophic cardiomyopathy; Respiratory difficultiesRespiratory failure due to muscle weaknessExertional dyspnea; Liver dysfunctionHepatomegalyLiver biopsy shows increased lipid droplets and abnormal mitochondria; ' De Toni-Fanconi-Debre' syndromeRenal tubular dysfunctionBiopsy shows decreased cytochrome c oxidase; Muscle weaknessHypotoniaExercise intoleranceMuscle biopsy shows decrease or absence of cytochrome c oxidaseIncreased lipid droplets and abnormal mitochondria; Developmental delayDelayed motor developmentHypotoniaAtaxiaPyramidal syndromeSeizuresMental retardationIncreased CSF lactateSymmetric lesions in the basal ganglia consistent with Leigh syndrome (), in a subset of patients; Lactic acidosis; Anemia (associated with mutation in the COX10 gene); Increased serum lactateIncreased CSF lactateProteinuriaGlucosuriaAminoaciduriaHyperphosphaturiaDecreased activity of cytochrome c oxidase in muscle and fibroblasts]

Publications

History Filter Activity

7 May 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: APOPT1.

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

APOPT1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen