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 1.152	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 Level 2: Neurology Version 8.76 Latest signed off version: v8.0 (30 Apr 2025) 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 1.344	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 Level 2: Mitochondrial Version 3.9 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 1.316	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 2: Ophthalmology Version 5.54 Latest signed off version: v5.0 (30 Apr 2025)	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 Level 2: Neurology Version 8.44 Latest signed off version: v8.0 (30 Apr 2025)	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 Level 2: Neurology Version 6.9 Latest signed off version: v6.0 (30 Apr 2025)	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 Level 2: Neurology Version 8.21 Latest signed off version: v8.0 (30 Apr 2025)	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 1.645	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 Level 2: Metabolic Version 8.107 Latest signed off version: v8.0 (30 Apr 2025) 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 Level 2: Mitochondrial Version 4.27 Latest signed off version: v4.0 (30 Apr 2025)	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 DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes SPINOCEREBELLAR ATAXIA 28 610246 ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE 614487
Red AFG3L2 in Intellectual disability Level 2: Developmental disorders Version 9.370 Latest signed off version: v9.0 (30 Apr 2025) 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 2: Mitochondrial Version 9.51 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	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 2: Ophthalmology Version 8.116 Latest signed off version: v8.0 (30 Apr 2025)	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 Level 2: Neurology Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	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
Amber AFG3L2 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.45 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic ataxia 5, autosomal recessive, OMIM:614487
Amber AFG3L2 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.20 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH London North GLH Phenotypes Spastic ataxia 5, autosomal recessive, OMIM: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

Sources

Phenotypes

Green AFG3L2 in Mitochondrial DNA maintenance disorder

Sources

Phenotypes

Green AFG3L2 in Hereditary spastic paraplegia

Sources

Phenotypes

Green AFG3L2 in Optic neuropathy

Sources

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

Sources

Phenotypes

Green AFG3L2 in Possible mitochondrial disorder - nuclear genes

Sources

Phenotypes

Green AFG3L2 in DDG2P

Sources

Phenotypes

Red AFG3L2 in Intellectual disability

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

Amber AFG3L2 in Hereditary neuropathy or pain disorder

Sources

Phenotypes

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

Sources

Phenotypes