NDUFAF6

NADH:ubiquinone oxidoreductase complex assembly factor 6
OMIM: 612392, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green NDUFAF6 in Mendeliome Version 1.4216	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239)
Amber NDUFAF6 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 1.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Fanconi renotubular syndrome 5, MIM# 618913 Tags founder
Green NDUFAF6 in Mitochondrial disease Level 2: Metabolic disorders Version 1.12 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239)
Green NDUFAF6 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.588	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green NDUFAF6 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.602	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber NDUFAF6 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.638	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 17, MIM#618239
Green NDUFAF6 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
Red NDUFAF6 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.217	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources MetBioNet Expert Review Red Victorian Clinical Genetics Services NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 17, 612392
Green NDUFAF6 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leigh syndrome MONDO:0009723 Mitochondrial complex I deficiency, nuclear type 17 MIM#618239
Amber NDUFAF6 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.25 Component of the following Super Panels: Kidneyome_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Amber Expert list Phenotypes Fanconi renotubular syndrome 5, MIM# 618913