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'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

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

6 reviewers

  • 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

  • Michael Bonello (The Walton Centre NHS Foundation Trust)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Nick Beauchamp (Sheffield Diagnostic Genetics Service)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

108 Entities

108 reviewed, 70 green

List Entity Reviews Mode of inheritance Details
108 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)
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, 615010
Tags
Green Green List (high evidence)
AFG3L2
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
  • Ataxia, spastic, 5, autosomal recessive
  • Spastic ataxia 5, autosomal recessive, 614487
Tags
Green Green List (high evidence)
AIMP1
4 reviews
2 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
  • Leukodystrophy, hypomyelinating, 3, 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)
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
  • Spastic paralysis, infantile onset ascending,autosomal recessive, 607225
  • Primary lateral sclerosis, juvenile, autosomal recessive, 606353
  • Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100
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, 614066
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, 613744
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
3 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, Recessive
  • Spastic paraplegia 48, autosomal recessive
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
  • Progressive spastic tetraplegia
  • Argininaemia, 207800
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)
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, 270685
Tags
Green Green List (high evidence)
C12orf65
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 55, autosomal recessive, 615035
  • optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy
  • Combined oxidative phosphorylation deficiency 7, 613559
Tags
Green Green List (high evidence)
C19orf12
4 reviews
1 green
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, 615043
  • Neurodegeneration with brain iron accumulation 4, 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
3 reviews
1 green
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, 616282, AD
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, 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)
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
  • Spasticparaplegia 64, 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)
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, 229300
Tags
Green Green List (high evidence)
FXN_GAA
STR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Friedreich ataxia 229300
Tags
  • STR
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)
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)
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 disability
  • developmental delay
  • epilepsy
  • progressive spasticity
  • Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534
  • hypothyroidism
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, 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 recessive, 610357
  • Mental retardation, autosomal dominant 9, 614255, AD
  • Neuropathy, hereditary sensory, type IIC, 614213
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, 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)
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
  • Hereditary spastic paraplegia
  • X-linked hydrocephalus, MASA syndrome, 303350
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)
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)
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)
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)
RTN2
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
  • Yorkshire and North East GLH
Phenotypes
  • Spastic paraplegia 12, autosomal dominant, 604805
Tags
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, 614739
  • MEGDEL syndrome
  • 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome
  • MEGDHEL syndrome
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, 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)
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, 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, 182601
Tags
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
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 7, autosomal recessive, 607259
Tags
Green Green List (high evidence)
TFG
3 reviews
2 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 57, autosomal recessive, 615658, AR
  • Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD
Tags
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
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Spastic paraplegia 79, autosomal recessive, 615491, AR
Tags
Green Green List (high evidence)
WASHC5
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 8, autosomal dominant, 603563
Tags
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
  • profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.
  • Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 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)
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)
ARL6IP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Spastic paraplegia
Tags
Amber Amber List (moderate evidence)
ATXN10_ATTCT
STR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 10 603516
Tags
  • STR
Amber Amber List (moderate evidence)
ATXN1_CAG
STR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 1 164400
Tags
  • STR
Amber Amber List (moderate evidence)
ATXN2_CAG
STR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 2 183090
Tags
  • STR
Amber Amber List (moderate evidence)
ATXN3_CAG
STR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Machado-Joseph disease 109150
Tags
  • STR
Amber Amber List (moderate evidence)
ATXN7_CAG
STR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 7 164500
Tags
  • STR
Amber Amber List (moderate evidence)
CACNA1A_CAG
STR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 6 183086
Tags
  • STR
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)
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
BOTH monoallelic and 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)
HSPD1
4 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • London North GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Spastic paraplegia 13, autosomal dominant, 605280
Tags
Amber Amber List (moderate evidence)
HTT_CAG
STR
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Huntington disease 143100
Tags
  • STR
Amber Amber List (moderate evidence)
IBA57
3 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 74, autosomal recessive, 616451
Tags
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)
MAG
3 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 75, autosomal recessive, 616680
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)
PPP2R2B_CAG
STR
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 12 604326
Tags
  • STR
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)
TBP_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 17 607136
Tags
  • STR
Amber Amber List (moderate evidence)
TECPR2
3 reviews
1 green
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 49, autosomal recessive, 615031
Tags
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)
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)
RAB3GAP2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • spastic paraplegia
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)
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

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