Childhood onset hereditary spastic paraplegia (Version 4.43)

The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R61 Childhood onset hereditary spastic paraplegia' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R61 Childhood onset hereditary spastic paraplegia'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel has been created from Hereditary spastic paraplegia Version 1.185

Panel Activity

27 reviewers

Caroline Wright (Sanger)

Group: other
Workplace: other
Carl Fratter (Oxford University Hospitals NHS Trust)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Evan Reid (University of Cambridge)

Group: GeCIP domain
Workplace: Research lab
Lu Raymond (university of cambridge )

Group: GeCIP domain
Workplace: Research lab
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Cristina Dias (The Francis Crick Institute)

Group: NHS Genomic Medicine Centre
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Arianna Tucci (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Konstantinos Varvagiannis (Other)

Group: Other
Workplace: Other clinical service
Michael Bonello (The Walton Centre NHS Foundation Trust)

Group: GeCIP domain
Workplace: NHS clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Emily Jones (North Bristol NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Gavin Ryan (West Midlands Regional Genetics Laboratory)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Zerin Hyder (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Jana Jezkova (All Wales Medical Genomics Service)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Mafalda Gomes (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

160 Entities

160 reviewed, 104 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 160 Entitiess
Green Green List (high evidence)	ABCD1	5 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes spastic paraparesis VLCFA accumulation adrenal failure Hereditary spastic paraplegia Tags
Green Green List (high evidence)	ABHD16A	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Spastic paraplegia Intellectual disability Tags
Green Green List (high evidence)	ACER3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Leukodystrophy, progressive, early childhood-onset, OMIM:617762 Tags
Green Green List (high evidence)	ADAR	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Aicardi-Goutieres syndrome 6, OMIM:615010 Tags
Green Green List (high evidence)	AFG3L2	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Spastic ataxia 5, autosomal recessive OMIM:614487 spastic ataxia 5 MONDO:0013776 Spinocerebellar ataxia 28 OMIM:610246 spinocerebellar ataxia type 28 MONDO:0012450 Tags
Green Green List (high evidence)	AIMP1	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Leukodystrophy, hypomyelinating, 3, OMIM:260600 Tags
Green Green List (high evidence)	ALDH18A1	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Other Yorkshire and North East GLH Phenotypes Spastic paraplegia 9B, autosomal recessive, 616586 SPG9 Spastic paraplegia 9A, autosomal dominant, 601162 ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3 Tags
Green Green List (high evidence)	ALDH3A2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Sjogren-Larsson syndrome, OMIM:270200 Tags
Green Green List (high evidence)	ALS2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Primary lateral sclerosis, juvenile, OMIM:606353 Spastic paralysis, infantile onset ascending, OMIM:607225 Tags
Green Green List (high evidence)	AP4B1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066 Hereditary spastic paraplegia 47, MONDO:0013551 Tags
Green Green List (high evidence)	AP4E1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 51, autosomal recessive, OMIM:613744 Hereditary spastic paraplegia 51, MONDO:0013401 Tags
Green Green List (high evidence)	AP4M1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 50, autosomal recessive, 612936 Tags
Green Green List (high evidence)	AP4S1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes developmental delay seizures Spastic paraplegia 52, autosomal recessive, 614067 Tags
Green Green List (high evidence)	AP5Z1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 48, autosomal recessive, OMIM:613647 Tags
Green Green List (high evidence)	ARG1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Argininemia, OMIM:207800 Tags
Green Green List (high evidence)	ARL6IP1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Spastic paraplegia 61, autosomal recessive, OMIM:615685 hereditary spastic paraplegia 61, MONDO:0014304 Tags
Green Green List (high evidence)	ATL1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Spastic paraplegia 3A, autosomal dominant,182600 Spastic Paraplegia, Dominant Tags
Green Green List (high evidence)	ATP13A2	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Adult-onset lower-limb predominant spastic paraparesis Spastic paraplegia 78, autosomal recessive, 617225 complicated hereditary spastic paraplegia Tags
Green Green List (high evidence)	B4GALNT1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 26, autosomal recessive, 609195 Tags
Green Green List (high evidence)	BCAS3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic neurodevelopmental disorder Tags
Green Green List (high evidence)	BSCL2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Silver spastic paraplegia syndrome, OMIM:270685 Neuropathy, distal hereditary motor, type VC, OMIM:619112 Tags
Green Green List (high evidence)	C12orf65	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 55, autosomal recessive, OMIM:615035 Tags new-gene-name
Green Green List (high evidence)	C19orf12	6 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes ?Spastic paraplegia 43, autosomal recessive, OMIM:615043 Neurodegeneration with brain iron accumulation 4, OMIM: 614298 Tags
Green Green List (high evidence)	CAPN1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Spastic paraplegia 76 autosomal recessive, 616907 Tags
Green Green List (high evidence)	CPT1C	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Spastic paraplegia 73, autosomal dominant, OMIM:616282 Tags
Green Green List (high evidence)	CTNNB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075 Tags
Green Green List (high evidence)	CYP27A1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Cerebrotendinous xanthomatosis, 213700 progressive lower extremity spasticity,often disproportionate to any degree of weakness Tags
Green Green List (high evidence)	CYP2U1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 56, autosomal recessive, 615030 Tags
Green Green List (high evidence)	CYP7B1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Spastic paraplegia 5A, autosomal recessive, OMIM:270800 Tags
Green Green List (high evidence)	DARS	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes leg spasticity Brain stem and spinal cord Hypomyelination Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 Tags new-gene-name
Green Green List (high evidence)	DDHD1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 28, autosomal recessive, 609340 Tags
Green Green List (high evidence)	DDHD2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 54, autosomal recessive, 615033 Tags
Green Green List (high evidence)	DDX3X	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature NHS GMS Phenotypes Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958 Tags
Green Green List (high evidence)	ELOVL1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527 Tags missense
Green Green List (high evidence)	ENTPD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683 Tags
Green Green List (high evidence)	ERLIN1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Other Yorkshire and North East GLH Phenotypes Hereditary spastic paraplegia Spastic paraplegia 62, 615681 Tags
Green Green List (high evidence)	ERLIN2	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia, autosomal dominant Spastic paraplegia 18, autosomal recessive, 611225 hereditary spastic paraplegia neurodegeneration Tags
Green Green List (high evidence)	FA2H	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Spastic paraplegia 35, autosomal recessive, 612319 Tags
Green Green List (high evidence)	FAR1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 Tags
Green Green List (high evidence)	FARS2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Spastic paraplegia 77, autosomal recessive, 617046 Tags
Green Green List (high evidence)	FXN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags nucleotide-repeat-expansion
Green Green List (high evidence)	FXN_GAA STR	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags STR
Green Green List (high evidence)	GALC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Krabbe disease OMIM:245200 Tags
Green Green List (high evidence)	GBA2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 Tags
Green Green List (high evidence)	GCH1	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 Dystonia progressive spastic paraplegia Spastic paraplegia Tags
Green Green List (high evidence)	GJA1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Oculodentodigital dysplasia, OMIM:164200 Spastic paraplegia Tags
Green Green List (high evidence)	GLRX5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859 Tags
Green Green List (high evidence)	GPT2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281 Tags
Green Green List (high evidence)	HACE1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 Spastic paraplegia seizure psychomotor retardation Tags
Green Green List (high evidence)	HIKESHI	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 13, OMIM:616881 Tags
Green Green List (high evidence)	HPDL	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 Spastic paraplegia 83, autosomal recessive, OMIM:619027 Spastic paraplegia 83, autosomal recessive, MONDO:0033614 Tags gene-checked
Green Green List (high evidence)	HSPD1	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 Tags
Green Green List (high evidence)	IFIH1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 7, OMIM:615846 Tags
Green Green List (high evidence)	Xq28 region (includes MECP2) Gain ISCA-46304-Gain Region	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources ClinGen Expert Review Green Tags
Green Green List (high evidence)	KCNA2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes hereditary spastic paraplegia and ataxia Tags
Green Green List (high evidence)	KDM5C	4 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, OMIM:300534 Tags
Green Green List (high evidence)	KIDINS220	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Other Yorkshire and North East GLH Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296 Tags
Green Green List (high evidence)	KIF1A	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 30, autosomal dominant, OMIM:610357 Spastic paraplegia 30, autosomal recessive, OMIM:610357 NESCAV syndrome, OMIM:614255 Tags
Green Green List (high evidence)	KIF1C	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic ataxia 2, autosomal recessive, OMIM:611302 Tags
Green Green List (high evidence)	KIF5A	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Spastic paraplegia 10, autosomal dominant, 604187 Tags
Green Green List (high evidence)	KPNA3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes autosomal dominant pure spastic paraplegia, MONDO:0015088 Tags
Green Green List (high evidence)	L1CAM	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green London North GLH NHS GMS UKGTN Yorkshire and North East GLH Phenotypes CRASH syndrome, OMIM:303350 MASA syndrome, OMIM:303350 Hydrocephalus due to aqueductal stenosis, OMIM:307000 Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000 Hydrocephalus with Hirschsprung disease, OMIM:307000 Tags
Green Green List (high evidence)	MAG	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Spastic paraplegia 75, autosomal recessive, OMIM:616680 Tags
Green Green List (high evidence)	MAPK8IP3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 Tags
Green Green List (high evidence)	NDUFA12	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS PanelApp South West GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 Tags
Green Green List (high evidence)	NIPA1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Spastic paraplegia 6, autosomal dominant, 600363 Tags
Green Green List (high evidence)	NKX6-2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 Tags
Green Green List (high evidence)	NSRP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly Tags
Green Green List (high evidence)	NT5C2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 45, autosomal recessive, 613162 Tags
Green Green List (high evidence)	OPA3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Other Yorkshire and North East GLH Phenotypes 3-methylglutaconic aciduria, type III, 258501 Costeff syndrome Tags
Green Green List (high evidence)	PCYT2	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 82, autosomal recessive, 618770 Tags
Green Green List (high evidence)	PLP1	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Spastic paraplegia 2, X-linked, 312920 Tags
Green Green List (high evidence)	PNPLA6	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 39, autosomal recessive, 612020 Tags
Green Green List (high evidence)	POLR3A	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 Autosomal Recessive Ataxia Tags
Green Green List (high evidence)	RAB3GAP2	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Yorkshire and North East GLH Phenotypes Martsolf syndrome 1, OMIM:212720 Warburg micro syndrome 2, OMIM:614225 Tags
Green Green List (high evidence)	REEP1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Spastic paraplegia 31, autosomal dominant, 610250 Tags
Green Green List (high evidence)	REEP2	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Other Yorkshire and North East GLH Phenotypes Spastic paraplegia 72, autosomal dominant,615625 Spastic paraplegia 72, autosomal recessive, 615625 Tags
Green Green List (high evidence)	RNASEH2B	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Aicardi-Goutieres syndrome 2, OMIM:61018 Tags
Green Green List (high evidence)	RNF170	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Spastic paraplegia 85, autosomal recessive, OMIM:619686 Tags
Green Green List (high evidence)	RNU7-1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Type I interferonopathy Aicardi-Goutières syndrome Tags gene-checked
Green Green List (high evidence)	RTN2	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 12, autosomal dominant, OMIM:604805 distal hereditary motor neuropathy, MONDO:0018894 Lower limb spasticity, HP:0002061 Tags Q2_24_MOI Q2_24_NHS_review
Green Green List (high evidence)	SACS	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 Tags
Green Green List (high evidence)	SERAC1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Other Yorkshire and North East GLH Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Tags
Green Green List (high evidence)	SLC16A2	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523 Tags
Green Green List (high evidence)	SLC1A4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 Tags
Green Green List (high evidence)	SLC25A15	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 Tags
Green Green List (high evidence)	SLC2A1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Yorkshire and North East GLH Phenotypes spastic paraplegia seizure Dystonia 9, 601042 Developmental delay paroxysmal choreoathetosis Tags
Green Green List (high evidence)	SPART	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Troyer syndrome, OMIM:275900 Spastic paraplegia 20 Tags
Green Green List (high evidence)	SPAST	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438 Tags
Green Green List (high evidence)	SPATA5L1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 Tags gene-checked new-gene-name
Green Green List (high evidence)	SPG11	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Spastic paraplegia 11, autosomal recessive, 604360 Tags
Green Green List (high evidence)	SPG21	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Spastic Paraplegia, Recessive Mast syndrome, 248900 Tags
Green Green List (high evidence)	SPG7	6 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags
Green Green List (high evidence)	SPTAN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477 developmental and epileptic encephalopathy, 5, MONDO:0013277 Tags
Green Green List (high evidence)	STN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341 Tags
Green Green List (high evidence)	TAF8	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972 Tags
Green Green List (high evidence)	TECPR2	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031 Tags
Green Green List (high evidence)	TFG	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Spastic paraplegia 57, autosomal recessive, OMIM:615658 Tags
Green Green List (high evidence)	TMEM63C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes hereditary spastic paraplegia, MONDO:0019064 Tags gene-checked
Green Green List (high evidence)	TUBB4A	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Leukodystrophy, hypomyelinating, 6 612438 ataxia Dystonia 4, torsion, autosomal dominant 128101 Tags
Green Green List (high evidence)	UBAP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Yorkshire and North East GLH Phenotypes Hereditary spastic paraplegia Tags
Green Green List (high evidence)	UCHL1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Spastic paraplegia 79B, autosomal recessive, OMIM:615491 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209 Spastic paraplegia 79A, autosomal dominant, OMIM:620221 Tags Q3_23_MOI
Green Green List (high evidence)	WDR45B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 Tags
Green Green List (high evidence)	ZFYVE26	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 Tags
Amber Amber List (moderate evidence)	ACBD6	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	ALK	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Spastic-dystonic diplegia Tags
Amber Amber List (moderate evidence)	AMFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic paraplegia 89, autosomal recessive, OMIM:620379 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	AMPD2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber London North GLH NHS GMS Yorkshire and North East GLH Phenotypes ?Spastic paraplegia 63, 615686, AR Pontocerebellar hypoplasia, type 9, 615809, AR Tags
Amber Amber List (moderate evidence)	ATAD3A	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Harel-Yoon syndrome, OMIM:617183 Spastic paraplegia Tags
Amber Amber List (moderate evidence)	ATXN10_ATTCT STR	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags STR
Amber Amber List (moderate evidence)	ATXN1_CAG STR	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
Amber Amber List (moderate evidence)	ATXN2_CAG STR	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 Tags STR
Amber Amber List (moderate evidence)	ATXN3_CAG STR	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Phenotypes Machado-Joseph disease, OMIM:109150 Tags STR
Amber Amber List (moderate evidence)	ATXN7_CAG STR	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags STR
Amber Amber List (moderate evidence)	BLOC1S1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes severe intellectual disability severe global developmental delay epilepsy Tags gene-checked
Amber Amber List (moderate evidence)	CACNA1A_CAG STR	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Amber Amber List (moderate evidence)	CCDC82	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 hereditary spastic paraplegia, MONDO:0019064 Tags gene-checked
Amber Amber List (moderate evidence)	CHP1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic ataxia 9, autosomal recessive, OMIM:618438 Tags watchlist
Amber Amber List (moderate evidence)	CLDN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 22, OMIM:619328 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	DSTYK	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Other Yorkshire and North East GLH Phenotypes Spastic paraplegia 23, 270750 ongenital anomalies of kidney and urinary tract 1, 610805, AD Spastic paraplegia 23, 270750, AR Tags
Amber Amber List (moderate evidence)	EXOSC3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Complicated hereditary spastic paraplegia Tags
Amber Amber List (moderate evidence)	GAD1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Cerebralpalsy, spasticquadriplegic, 1, 603513 Tags
Amber Amber List (moderate evidence)	GJC2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Spastic paraplegia 44, autosomal recessive Leukodystrophy, hypomyelinating,2, 608804, AR Spastic paraplegia 44, autosomal recessive, 613206, AR Lymphatic malformation 3, 613480, AD Tags
Amber Amber List (moderate evidence)	HECTD4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 Tags gene-checked Q4_23_promote_green
Amber Amber List (moderate evidence)	HMBS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukoencephalopathy, HP:0002352 hereditary spastic paraplegia, MONDO:0019064 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	IBA57	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 Tags
Amber Amber List (moderate evidence)	LETM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags Q3_23_MOI Q3_23_promote_green
Amber Amber List (moderate evidence)	LYST	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes spastic paraplegia Chediak-Higashi syndrome, 214500 Tags
Amber Amber List (moderate evidence)	MARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic ataxia 3, autosomal recessive, 611390 Tags
Amber Amber List (moderate evidence)	MTPAP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Ataxia, spastic, 4 Spastic ataxia 4, autosomal recessive ?Spastic ataxia 4, autosomal recessive, 613672 Tags
Amber Amber List (moderate evidence)	NRCAM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833 Tags watchlist
Amber Amber List (moderate evidence)	PI4KA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 Tags
Amber Amber List (moderate evidence)	POLR3K	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 21, OMIM:619310 Tags founder-effect watchlist
Amber Amber List (moderate evidence)	PPFIBP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	PPP2R2B_CAG STR	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags STR
Amber Amber List (moderate evidence)	RETREG1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, OMIM:613115 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	RHOB	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cerebral palsy Tags
Amber Amber List (moderate evidence)	SARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845 Progressive Spastic Paresis Tags
Amber Amber List (moderate evidence)	SLC25A46	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 Tags
Amber Amber List (moderate evidence)	SPTSSA	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic paraplegia 90A, autosomal dominant, OMIM:620416 ?Spastic paraplegia 90B, autosomal recessive, OMIM:620417 Tags
Amber Amber List (moderate evidence)	TBP_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags STR
Amber Amber List (moderate evidence)	VAMP1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic ataxia 1, autosomal dominant, 108600 Tags
Amber Amber List (moderate evidence)	VPS37A	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 53, 614898, AR Tags
Amber Amber List (moderate evidence)	WDR48	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes spastic paraplegia Tags
Red Red List (low evidence)	ARSI	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red NHS GMS Yorkshire and North East GLH Tags
Red Red List (low evidence)	CCT5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Sensory Neuropathy with Spastic Paraplegia Neuropathy, hereditary sensory, with spastic paraplegia Tags
Red Red List (low evidence)	CDK16	3 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Intellectual disability and spastic paraplegia, x-linked Tags
Red Red List (low evidence)	CHMP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Complex spastic quadriplegia associated with developmental delay and seizures Tags
Red Red List (low evidence)	KLC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Spastic paraplegia, optic atrophy, and neuropathy, OMIM:609541 Tags currently-ngs-unreportable
Red Red List (low evidence)	KLC4	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Yorkshire and North East GLH Phenotypes spastic paraplegia progressive complicated spastic paraplegia Tags
Red Red List (low evidence)	MARS	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red NHS GMS Yorkshire and North East GLH Tags new-gene-name
Red Red List (low evidence)	PCDH12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review NHS GMS Yorkshire and North East GLH Phenotypes microcephaly perithalamic hyperechogenicity midbrain abnormalities intellectual disability epilepsy periventricular hyperechogenicity hypothalamic abnormalities Tags
Red Red List (low evidence)	PGAP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red NHS GMS Yorkshire and North East GLH Tags
Red Red List (low evidence)	PSEN1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia Alzheimer disease, type 3, with spastic paraparesis and unusual plaques Tags
Red Red List (low evidence)	SLC33A1	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482, AR Spastic paraplegia 42, autosomal dominant Tags
Red Red List (low evidence)	USP8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red NHS GMS Yorkshire and North East GLH Tags
Red Red List (low evidence)	WASHC5	7 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Spastic paraplegia 8, autosomal dominant, OMIM:603563 Tags
Red Red List (low evidence)	ZEB2	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Tags
Red Red List (low evidence)	ZFYVE27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Spastic paraplegia 33, autosomal dominant Tags
No list No list	HTT_CAG STR	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed NHS GMS Phenotypes Huntington disease, OMIM:143100 Tags curated_removed STR

Major version comments

2023-03-22 14:47 Catherine Snow (Genomics England) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 14:35 Eleanor Williams (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-10-18 15:35 Louise Daugherty (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.179) was signed off under NHS Genomic Medicine Service governance on (18/October/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

2019-01-28 14:26 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
Reviewed externally and revised with further curation. Ready to promote to version 1.

Childhood onset hereditary spastic paraplegia (Version 4.43)

27 reviewers

160 Entities

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