Hereditary neuropathy or pain disorder
Gene: APOPT1EnsemblGeneIds (GRCh38): ENSG00000256053
EnsemblGeneIds (GRCh37): ENSG00000256053
OMIM: 616003, Gene2Phenotype
APOPT1 is in 13 panels
1 review
Alexander Rossor (UCL Institute of Neurology)
Sources: Expert listCreated: 19 Apr 2026, 10:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
25175347; 38098475Encephalopathic episodes; loss of developmental milestones; seizures; spasticity; cavitating leukodystrophy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- 25175347
- 38098475Encephalopathic episodes
- loss of developmental milestones
- seizures
- spasticity
- cavitating leukodystrophy
- OMIM
- 616003
- Clinvar variants
- Variants in APOPT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Monogenic hearing loss
- Intellectual disability
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Mitochondrial disorder with complex IV deficiency
- Hereditary neuropathy or pain disorder
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: APOPT1 was added gene: APOPT1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APOPT1 were set to 25175347; 38098475 Phenotypes for gene: APOPT1 were set to 25175347; 38098475Encephalopathic episodes; loss of developmental milestones; seizures; spasticity; cavitating leukodystrophy Penetrance for gene: APOPT1 were set to Complete Review for gene: APOPT1 was set to GREEN