APOPT1

apoptogenic 1, mitochondrial
OMIM: 616003, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green APOPT1 in White matter disorders and cerebral calcification - childhood onset Level 2: Neurology Version 8.7 Latest signed off version: v8.6 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Tags new-gene-name
Amber APOPT1 in Hereditary spastic paraplegia, childhood onset Level 2: Neurology Version 9.11 Latest signed off version: v9.7 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 mitochondrial complex IV deficiency, nuclear type 17, MONDO:0033652 hereditary spastic paraplegia, MONDO:0019064 Tags Q3_26_promote_green new-gene-name
Green APOPT1 in Mitochondrial disorder with complex IV deficiency Level 2: Mitochondrial Version 5.5 Latest signed off version: v5.4 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Tags new-gene-name
Green APOPT1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Isolated complex IV deficiency Tags new-gene-name
Green APOPT1 in Likely inborn error of metabolism Level 2: Metabolic Version 9.32 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Isolated complex IV deficiency Tags new-gene-name
Green APOPT1 in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.25 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Tags new-gene-name
Red APOPT1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY Tags new-gene-name
Green APOPT1 in DDG2P Version 8.2 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 Tags new-gene-name
Red APOPT1 in Monogenic hearing loss Level 2: Audiology Version 6.42 Latest signed off version: v6.34 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Tags new-gene-name
Green APOPT1 in Intellectual disability Level 2: Developmental disorders Version 11.28 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Tags new-gene-name
Green APOPT1 in Mitochondrial disorders Level 2: Mitochondrial Version 10.25 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Expert list Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Isolated complex IV deficiency Tags new-gene-name
Red APOPT1 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 8.7 Latest signed off version: v8.4 (12 Aug 2026) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Amber APOPT1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 8.33 Latest signed off version: v8.30 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 mitochondrial complex IV deficiency, nuclear type 17, MONDO:0033652 peripheral neuropathy, MONDO:0005244 Tags Q3_26_NHS_review Q3_26_promote_green new-gene-name
Red APOPT1 in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH Expert Review Red London North GLH