AFG2A

AAA ATPase AFG2A
OMIM: 613940, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green AFG2A in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577 Tags new gene name
Green AFG2A in Mendeliome Version 2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577 Tags new gene name
Green AFG2A in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Tags new gene name
Green AFG2A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.1 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577 Tags new gene name
Green AFG2A in Mitochondrial disease Level 2: Metabolic disorders Version 2.0 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Tags new gene name
Green AFG2A in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577 Tags new gene name
Green AFG2A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577 Tags new gene name
Green AFG2A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive
Green AFG2A in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Genetic Health Queensland Phenotypes Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Tags new gene name
Green AFG2A in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577 Tags new gene name
Green AFG2A in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577 Tags new gene name