APOPT1

apoptogenic 1, mitochondrial
OMIM: 616003, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green APOPT1 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.24 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	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
Green APOPT1 in Mitochondrial disorder with complex IV deficiency Level 2: Mitochondrial Version 4.14 Latest signed off version: v4.0 (30 Apr 2025)	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 8.113 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant 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 4.31 Latest signed off version: v4.0 (30 Apr 2025)	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 6.192 Latest signed off version: v6.0 (30 Apr 2025)	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 6.447 Latest signed off version: v6.0 (30 Apr 2025) 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 5.73 Latest signed off version: v5.0 (30 Apr 2025) 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 9.397 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant 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 9.54 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	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 7.102 Latest signed off version: v7.0 (30 Apr 2025) 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
No list APOPT1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.45 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes 25175347 38098475Encephalopathic episodes loss of developmental milestones seizures spasticity cavitating leukodystrophy
Red APOPT1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.25 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH Expert Review Red London North GLH