Possible mitochondrial disorder - nuclear genes
Gene: APOPT1EnsemblGeneIds (GRCh38): ENSG00000256053
EnsemblGeneIds (GRCh37): ENSG00000256053
OMIM: 616003, Gene2Phenotype
APOPT1 is in 12 panels
4 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.
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, 220110
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on OMIM and G2P.Created: 26 Feb 2016, 12:15 p.m.
Comment on list classification: Green review and confirmed DD gene.Created: 26 Feb 2016, 12:15 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
- 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
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.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: APOPT1 was added gene: APOPT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110