EPG5

ectopic P-granules autophagy protein 5 homolog
OMIM: 615068, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green EPG5 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Vici syndrome, MIM# 242840
Red EPG5 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Vici syndrome, MIM#242840
Green EPG5 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Vici syndrome, MIM# 242840
Green EPG5 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Vici Syndrome (MONDO: 0009452 MIM#242840)
Green EPG5 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.11 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of autophagy Vici syndrome MONDO:0009452
Green EPG5 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 NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Vici syndrome, MIM# 242840
Green EPG5 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Vici syndrome, MIM# 242840
Green EPG5 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Vici syndrome, MIM# 242840
Green EPG5 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Vici syndrome, MIM# 242840
Green EPG5 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 Vici syndrome, 242840 (3)
Green EPG5 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS Phenotypes Vici syndrome, 242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Green EPG5 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Vici syndrome, 242840
Green EPG5 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Vici syndrome MIM#242840 Congenital disorders of autophagy
Green EPG5 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Vici syndrome, MIM# 242840
Green EPG5 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Vici syndrome, 242840 (3)
Green EPG5 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Vici syndrome, 242840 (3)