Genomics England

TIMM8A

translocase of inner mitochondrial membrane 8A

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.12	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mohr-Tranebjaerg syndrome, OMIM:304700
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mohr-Tranebjaerg syndrome, 304700
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MOHR-TRANEBJAERG SYNDROME 304700, JENSEN SYNDROME 311150
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mohr-Tranebjaerg syndrome, 304700, Jensen syndrome, 311150, Disorders of the mitochondrial import system, Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Deafness, X-linked 1, progressive
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Disorders of the mitochondrial import system, Deafness, X-linked 1, progressive, Mohr-Tranebjaerg syndrome, 304700, Jensen syndrome, 311150
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes #304700:Mohr-Tranebjaerg syndrome, hearing loss, Deafness, X-linked 1, progressive
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mohr-Tranebjaerg syndrome, 304700
Green in Retinal disorders R-numbers: R32 Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Eye Disorders, Mohr-Tranebjaerg syndrome, 304700