SURF1

SURF1, cytochrome c oxidase assembly factor
OMIM: 185620, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green SURF1 in Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 0.46	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SURF1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 4K MIM#616684 Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110
Green SURF1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110
Green SURF1 in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services
Green SURF1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SURF1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SURF1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green SURF1 in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.235 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leigh syndrome, due to COX IV deficiency, MIM# 256000
Green SURF1 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Leigh syndrome, due to COX IV deficiency Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorder
Green SURF1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leigh syndrome, due to COX IV deficiency, 256000 HMSN Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV
Green SURF1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leigh syndrome, due to COX deficiency, 256000 (3)
Green SURF1 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Charcot-Marie-Tooth disease, type 4K, 616684 Leigh syndrome, due to COX IV deficiency, 256000
Green SURF1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Leigh syndrome, due to COX deficiency
Green SURF1 in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 1.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex IV deficiency, nuclear type 1 OMIM 220110
Red SURF1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial complex IV deficiency, nuclear type 1 (MIM#220110)
Green SURF1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leigh syndrome, due to COX deficiency, 256000 (3)
Red SURF1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Charcot-Marie-Tooth disease, type 4K MIM#616684 Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110
Green SURF1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leigh syndrome, due to COX deficiency, 256000 (3)