C17orf80

chromosome 17 open reading frame 80
ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber C17orf80 in Mendeliome Version 1.4540	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO:0044970 Tags new gene name
Amber C17orf80 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.384 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes Mitochondrial disease, MONDO:0044970 Tags new gene name
Amber C17orf80 in Mitochondrial disease Level 2: Metabolic disorders Version 1.16 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes Mitochondrial disease, MONDO:0044970 Tags new gene name
Amber C17orf80 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.699	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes Mitochondrial disease, MONDO:0044970 Tags new gene name
Amber C17orf80 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.192 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes Mitochondrial disease, MONDO:0044970 Tags new gene name