TIMM8A

translocase of inner mitochondrial membrane 8A
OMIM: 300356, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Red TIMM8A in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Red TIMM8A in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.147	review	Not set	Sources Emory Genetics Laboratory Phenotypes Deafness-Dystonia-Optic Neuronopathy Syndrome
Amber TIMM8A in Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.30 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber London North GLH Emory Genetics Laboratory Phenotypes deafness-dystonia-optic neuropathy syndrome Mohr-Tranebjaerg syndrome
Red TIMM8A in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	Unknown	Sources Expert Review Red Phenotypes Deafness-Dystonia-Optic Neuronopathy Syndrome
Green TIMM8A in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of the mitochondrial import system Deafness, X-linked 1, progressive Mohr-Tranebjaerg syndrome, 304700 Jensen syndrome, 311150
Green TIMM8A in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green 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 TIMM8A in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Phenotypes Mohr-Tranebjaerg syndrome, 304700
Red TIMM8A in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes MOHR-TRANEBJAERG SYNDROME JENSEN SYNDROME
Green TIMM8A in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green DD-Gene2Phenotype Phenotypes MOHR-TRANEBJAERG SYNDROME 304700 JENSEN SYNDROME 311150
Green TIMM8A in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.36 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes #304700:Mohr-Tranebjaerg syndrome hearing loss Deafness, X-linked 1, progressive
Red TIMM8A in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.531 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Deafness, X-linked 1, progressiveMohr-Tranebjaerg syndrome, 304700Jensen syndrome, 311150 JENSEN SYNDROME
Green TIMM8A in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Disorders of the mitochondrial import system Deafness, X-linked 1, progressive Mohr-Tranebjaerg syndrome, 304700 Jensen syndrome, 311150
Green TIMM8A in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.89 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Mohr-Tranebjaerg syndrome, 304700
Red TIMM8A in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Red Phenotypes Mohr-Tranebjaerg syndrome, 304700 Eye Disorders
Green TIMM8A in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS South West GLH Phenotypes Mohr-Tranebjaerg syndrome, OMIM:304700
Green TIMM8A in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources South West GLH Expert Review Green London North GLH Phenotypes Mohr-Tranebjaerg syndrome, 304700
Green TIMM8A in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Mohr-Tranebjaerg syndrome, 304700