AFG3L2

AFG3 like matrix AAA peptidase subunit 2
OMIM: 604581, Gene2Phenotype

20 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 panels
Green AFG3L2 in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.147	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487
Green AFG3L2 in Ataxia and cerebellar anomalies - narrow panel Version 4.59 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487
Green AFG3L2 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487
Green AFG3L2 in Mitochondrial DNA maintenance disorder Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Optic atrophy 12, OMIM:618977 Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487
Green AFG3L2 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Spastic ataxia 5, autosomal recessive OMIM:614487 spastic ataxia 5 MONDO:0013776 Spinocerebellar ataxia 28 OMIM:610246 spinocerebellar ataxia type 28 MONDO:0012450
Green AFG3L2 in Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.30 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Optic atrophy 12, OMIM:618977 (AD) Spastic ataxia 5, autosomal recessive, OMIM:614487 (AR)
Green AFG3L2 in Childhood onset hereditary spastic paraplegia Version 4.42 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Spastic ataxia 5, autosomal recessive OMIM:614487 spastic ataxia 5 MONDO:0013776 Spinocerebellar ataxia 28 OMIM:610246 spinocerebellar ataxia type 28 MONDO:0012450
Amber AFG3L2 in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic ataxia 5, autosomal recessive, OMIM:614487
Green AFG3L2 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Spinocerebellar ataxia 28, OMIM:610246 Ataxia, spastic, 5, autosomal recessive, OMIM:614487 Dystonia
Green AFG3L2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Optic atrophy 12, OMIM:618977 Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487
Green AFG3L2 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Optic atrophy 12, OMIM:618977 Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487
Green AFG3L2 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Optic atrophy 12, OMIM:618977 Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487
Red AFG3L2 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red DD-Gene2Phenotype Phenotypes SPINOCEREBELLAR ATAXIA 28 610246 ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE 614487
Red AFG3L2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.531 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Optic atrophy 12, OMIM:618977 Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487
Green AFG3L2 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Optic atrophy 12, OMIM:618977 Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487
Green AFG3L2 in Hereditary ataxia with onset in adulthood Version 4.31 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487
Green AFG3L2 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.89 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Optic atrophy 12, OMIM:618977, MONDO:0033549 Spastic ataxia 5, autosomal recessive, OMIM:614487
Green AFG3L2 in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487
Green AFG3L2 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Expert Review Green London North GLH Phenotypes Spastic ataxia 5, autosomal recessive, OMIM:614487 Tags to_be_confirmed_NHSE
Green AFG3L2 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 28, 610246 Spastic ataxia 5, autosomal recessive, 614487

AFG3L2

20 panels

Green AFG3L2 in Early onset dystonia

Sources

Phenotypes

Green AFG3L2 in Ataxia and cerebellar anomalies - narrow panel

Sources

Phenotypes

Green AFG3L2 in Hereditary ataxia

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Phenotypes

Green AFG3L2 in Mitochondrial DNA maintenance disorder

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Phenotypes

Green AFG3L2 in Hereditary spastic paraplegia

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Phenotypes

Green AFG3L2 in Optic neuropathy

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Phenotypes

Green AFG3L2 in Childhood onset hereditary spastic paraplegia

Sources

Phenotypes

Amber AFG3L2 in Adult onset hereditary spastic paraplegia

Sources

Phenotypes

Green AFG3L2 in Adult onset neurodegenerative disorder

Sources

Phenotypes

Green AFG3L2 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green AFG3L2 in Likely inborn error of metabolism - targeted testing not possible

Sources

Phenotypes

Green AFG3L2 in Possible mitochondrial disorder - nuclear genes

Sources

Phenotypes

Red AFG3L2 in DDG2P

Sources

Phenotypes

Red AFG3L2 in Intellectual disability - microarray and sequencing

Sources

Phenotypes

Green AFG3L2 in Mitochondrial disorders

Sources

Phenotypes

Green AFG3L2 in Hereditary ataxia with onset in adulthood

Sources

Phenotypes

Green AFG3L2 in Retinal disorders

Sources

Phenotypes

Green AFG3L2 in Adult onset dystonia, chorea or related movement disorder

Sources

Phenotypes

Green AFG3L2 in Childhood onset dystonia, chorea or related movement disorder

Sources

Phenotypes

Tags

Green AFG3L2 in Severe Paediatric Disorders

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Phenotypes