TIMM8A

translocase of inner mitochondrial membrane 8A
OMIM: 300356
PanelMode of inheritanceDetails
8 panels
R-numbers: R56
Signed-off version 1.121
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mohr-Tranebjaerg syndrome, OMIM:304700
R-numbers: R57
Signed-off version 1.137
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 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MOHR-TRANEBJAERG SYNDROME 304700, JENSEN SYNDROME 311150
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
#304700:Mohr-Tranebjaerg syndrome, hearing loss, Deafness, X-linked 1, progressive
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
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
R-numbers: R63
Signed-off version 1.17
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mohr-Tranebjaerg syndrome, 304700
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Eye Disorders, Mohr-Tranebjaerg syndrome, 304700