TIMM8A

translocase of inner mitochondrial membrane 8A
OMIM: 300356, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green TIMM8A in Mendeliome Version 1.3795	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mohr-Tranebjaerg syndrome, MIM# 304700
Amber TIMM8A in Optic Atrophy Level 2: Ophthalmological disorders Version 1.64 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mohr-Tranebjaerg syndrome (MIM#304700)
Green TIMM8A in Mitochondrial disease Level 2: Metabolic disorders Version 0.1275 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services
Green TIMM8A in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.600	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TIMM8A in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.304	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Mohr-Tranebjaerg syndrome, MIM# 304700
Red TIMM8A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes Mohr-Tranebjaerg syndrome OMIM #304700
Green TIMM8A in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.290 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Deafness-Dystonia-Optic Neuronopathy Syndrome Mohr-Tranebjaerg syndrome, MIM# 304700
Green TIMM8A in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.234 Component of the following Super Panels: Retinal Disorders Superpanel	2 reviews	Unknown	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services
Green TIMM8A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Jensen syndrome, 311150 (3)
Green TIMM8A in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Mohr-Tranebjaerg syndrome
Red TIMM8A in Fetal anomalies Version 1.481	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Expert list Phenotypes Mohr-Tranebjaerg syndrome, MIM# 304700
Green TIMM8A in Prepair 1000+ Level 2: Screening Version 2.15	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mohr-Tranebjaerg syndrome MIM#304700
Red TIMM8A in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Mohr-Tranebjaerg syndrome MIM#304700