This Panel is marked as Deleted
Mitochondrial disorders AD Victorian Clinical Genetics Services
Gene: APOPT1
APOPT1 (apoptogenic 1, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000256053
EnsemblGeneIds (GRCh37): ENSG00000256053
OMIM: 616003, Gene2Phenotype
APOPT1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000256053
EnsemblGeneIds (GRCh37): ENSG00000256053
OMIM: 616003, Gene2Phenotype
APOPT1 is in 12 panels
1 review
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for APOPT1 is COA8Created: 7 May 2019, 1:41 p.m.
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Tags
- OMIM
- 616003
- Clinvar variants
- Variants in APOPT1
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Mitochondrial disorder with complex IV deficiency
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorders
History Filter Activity
7 May 2019, Gel status: 4
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: APOPT1.
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)APOPT1 was added to Mitochondrial disorders AD Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)APOPT1 was created by Sarah Leigh