AFG3L2

AFG3 like matrix AAA peptidase subunit 2
OMIM: 604581, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Amber AFG3L2 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.10 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 28, MIM# 610246 optic atrophy spastic ataxia L-dopa-responsive parkinsonism
Green AFG3L2 in Mendeliome Version 1.2302	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spastic ataxia 5, autosomal recessive (MIM#614487) Spinocerebellar ataxia 28 (MIM#610246) Optic atrophy 12, MIM# 618977
Green AFG3L2 in Optic Atrophy Level 2: Ophthalmological disorders Version 1.45 Component of the following Super Panels: Retinal Disorders Superpanel	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 12, MIM# 618977
Red AFG3L2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Spastic ataxia 5, autosomal recessive MIM#614487 Spinocerebellar ataxia 28 MIM#610246
Green AFG3L2 in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 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 Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Spastic ataxia 5, autosomal recessive (MIM#614487) Spinocerebellar ataxia 28 (MIM#610246) Optic atrophy 12, MIM# 618977
Green AFG3L2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red AFG3L2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Spastic ataxia 5, autosomal recessive, MIM#614487
Green AFG3L2 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.18 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia, spastic, 5, autosomal recessive spastic ataxia 5, 614487 Spinocerebellar ataxia 28 Spinocerebellar ataxia 28, 610246 Spinocerebellar Ataxia, Dominant
Green AFG3L2 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.30 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spastic ataxia 5, autosomal recessive MIM#614487 Spinocerebellar ataxia 28 MIM#610246
Amber AFG3L2 in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.272 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic ataxia 5, autosomal recessive MIM#614487 Early-onset dystonia
Green AFG3L2 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.86 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia 5, autosomal recessive, MIM# 614487 Spinocerebellar ataxia 28, MIM# 610246
Red AFG3L2 in Progressive Myoclonic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.19	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
Green AFG3L2 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.19 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia 5, autosomal recessive, MIM# 614487, MONDO:0013776 Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia
Green AFG3L2 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.219 Component of the following Super Panels: Retinal Disorders Superpanel	2 reviews	Unknown	Sources Expert Review Green Expert list RetNet Expert Review Green Victorian Clinical Genetics Services
Red AFG3L2 in Neurodegeneration with brain iron accumulation Level 2: Neurology and neurodevelopmental disorders Version 1.0 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spastic ataxia 5, autosomal recessive, MIM# 614487 Spinocerebellar ataxia 28, MIM# 610246