Genomics England
GMS Panels
Panels
Genes and Entities

TIMM8A

translocase of inner mitochondrial membrane 8A
OMIM: 300356
PanelMode of inheritanceDetails
8 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 4.0
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 5.4
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 4.15
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
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
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 7.4
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 4.51
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 3.105
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 6.16
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Eye Disorders, Mohr-Tranebjaerg syndrome, 304700