ATAD3A

ATPase family, AAA domain containing 3A
OMIM: 612316, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ATAD3A in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.91	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810 Tags SV/CNV
Green ATAD3A in Mendeliome Version 1.3512	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Harel-Yoon syndrome, MIM# 617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810 Tags SV/CNV
Green ATAD3A in Optic Atrophy Level 2: Ophthalmological disorders Version 1.54 Component of the following Super Panels: Retinal Disorders Superpanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Harel-Yoon syndrome, MIM#617183
Green ATAD3A in Mitochondrial disease Level 2: Metabolic disorders Version 0.1085 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Harel-Yoon syndrome, MIM# 617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810 Tags SV/CNV
Green ATAD3A in Autoinflammatory Disorders Level 2: Immunological disorders Version 2.28 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes inborn error of immunity MONDO:0003778 Harel-Yoon syndrome MONDO:0014958
Green ATAD3A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Harel-Yoon syndrome, MIM# 617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810 Tags SV/CNV
Green ATAD3A in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.102 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Harel-Yoon syndrome, MIM# 617183
Green ATAD3A in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.40 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Global developmental delay, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy
Green ATAD3A in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.207	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes Harel-Yoon syndrome, MIM# 617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810 perinatal cardiomyopathy cataracts corneal clouding Tags SV/CNV
Green ATAD3A in Fetal anomalies Version 1.465	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Harel-Yoon syndrome, MIM# 617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810