Genomics England

AIFM1

apoptosis inducing factor mitochondria associated 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 300816, COWCHOCK SYNDROME 310490
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Cowchock syndrome, OMIM:310490, Combined oxidative phosphorylation deficiency 6, OMIM:300816
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Cowchock syndrome, OMIM:310490, Combined oxidative phosphorylation deficiency 6, OMIM:300816, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	X-LINKED: hemizygous mutation in males, biallelic mutations in females	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 in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Disorders of mitochondrial apoptosis, Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.51	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Deafness, X-linked 5, OMIM:300614
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Combined oxidative phosphorylation deficiency 6, 300816
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 5.3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232