Genomics England

TIMM8A

translocase of inner mitochondrial membrane 8A

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MOHR-TRANEBJAERG SYNDROME 304700, JENSEN SYNDROME 311150
Green in Dystonia, chorea or related movement disorder, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.7	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mohr-Tranebjaerg syndrome, OMIM:304700, deafness dystonia syndrome, MONDO:0010578
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mohr-Tranebjaerg syndrome, 304700
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mohr-Tranebjaerg syndrome, OMIM:304700, deafness dystonia syndrome, MONDO:0010578
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mohr-Tranebjaerg syndrome, OMIM:304700, deafness dystonia syndrome, MONDO:0010578
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 6.34	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mohr-Tranebjaerg syndrome, OMIM:304700, deafness dystonia syndrome, MONDO:0010578
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mohr-Tranebjaerg syndrome, OMIM:304700, deafness dystonia syndrome, MONDO:0010578
Green in Retinal disorders R-numbers: R32 Signed-off version 9.14	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Eye Disorders, Mohr-Tranebjaerg syndrome, 304700