Monogenic hearing loss
Gene: APOPT1EnsemblGeneIds (GRCh38): ENSG00000256053
EnsemblGeneIds (GRCh37): ENSG00000256053
OMIM: 616003, Gene2Phenotype
APOPT1 is in 12 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for APOPT1 is COA8Created: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
- Tags
- OMIM
- 616003
- Clinvar variants
- Variants in APOPT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Intellectual disability
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Mitochondrial disorder with complex IV deficiency
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: APOPT1 were set to
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: APOPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: APOPT1 were changed from Mitochondrial Complex IV Deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: APOPT1.
Added New Source
Ellen McDonagh (Genomics England Curator)APOPT1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen