TOMM70

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Amber TOMM70 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Severe anaemia, lactic acidosis, developmental delay White matter abnormalities, developmental delay, regression, movement disorder
Amber TOMM70 in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Severe anaemia Lactic acidosis Developmental delay
Amber TOMM70 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes White matter abnormalities Developmental delay Regression Movement disorder

3 panels