AIFM1

apoptosis inducing factor mitochondria associated 1
OMIM: 300169, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green AIFM1 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.11 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Expert list Phenotypes Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232
Red AIFM1 in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.40	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Combined oxidative phosphorylation deficiency 6 300816 Tags watchlist
Green AIFM1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial apoptosis Combined oxidative phosphorylation deficiency 6, 300816 Cowchock syndrome, 310490
Green AIFM1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 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	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of mitochondrial apoptosis Cowchock syndrome, 310490 Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Combined oxidative phosphorylation deficiency 6, 300816
Green AIFM1 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 6, 300816
Amber AIFM1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 COWCHOCK SYNDROME
Green AIFM1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green DD-Gene2Phenotype Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 300816 COWCHOCK SYNDROME 310490
Green AIFM1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources South West GLH NHS GMS London North GLH Expert Review Green Expert Review Phenotypes Cowchock syndrome, OMIM:310490 Combined oxidative phosphorylation deficiency 6, OMIM:300816
Green AIFM1 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Deafness, X-linked 5, OMIM:300614
Green AIFM1 in Intellectual disability Level 2: Developmental disorders Version 9.281 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cowchock syndrome, OMIM:310490 Combined oxidative phosphorylation deficiency 6, OMIM:300816 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232
Green AIFM1 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Disorders of mitochondrial apoptosis Combined oxidative phosphorylation deficiency 6, 300816 Cowchock syndrome, 310490
Red AIFM1 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS South West GLH Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 6 300816
Amber AIFM1 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 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	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 6, OMIM:300816 severe X-linked mitochondrial encephalomyopathy, MONDO:0010437 Tags Q3_25_promote_green
Green AIFM1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green South West GLH London North GLH NHS GMS South West GLH NHS GMS London North GLH Phenotypes Cowchock syndrome, OMIM:310490 Combined oxidative phosphorylation deficiency 6, OMIM:300816
Red AIFM1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources South West GLH Expert Review Red London North GLH Phenotypes Combined oxidative phosphorylation deficiency 6 300816