TIMM8A:Ensemblv115

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

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber TIMM8A in Optic Atrophy Level 2: Ophthalmological disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Amber Phenotypes Mohr-Tranebjaerg syndrome (MIM#304700)
Green TIMM8A in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green TIMM8A in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Expert Review Green Literature Expert Review Green Phenotypes Mohr-Tranebjaerg syndrome, MIM# 304700
Green TIMM8A in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Deafness-Dystonia-Optic Neuronopathy Syndrome Mohr-Tranebjaerg syndrome, MIM# 304700
Green TIMM8A in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	2 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green RetNet Expert Review Green
Green TIMM8A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Mackenzie's Mission Expert Review Green Phenotypes Jensen syndrome, 311150 (3)
Green TIMM8A in Deafness_Isolated Level 2: Hearing and ear disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Mohr-Tranebjaerg syndrome, MIM# 304700
Green TIMM8A in Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Literature Expert Review Green Phenotypes Mohr-Tranebjaerg syndrome, MIM# 304700 Syndromic auditory neuropathy spectrum disorder
Green TIMM8A in Prepair 1000+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Mackenzie's Mission Expert Review Green Phenotypes Mohr-Tranebjaerg syndrome MIM#304700