Hereditary Spastic Paraplegia - adult onset (Version 1.11)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 60 Entitiess
Green Green List (high evidence)	ABCD1	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 Expert list Expert Review Green Royal Melbourne Hospital Phenotypes spastic paraparesis Hereditary spastic paraplegia Adrenoleukodystrophy, 300100 VLCFA accumulation adrenal failure Tags
Green Green List (high evidence)	ALDH18A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 9B, autosomal recessive, MIM# 616586 Spastic paraplegia 9A, autosomal dominant, MIM# 601162 Tags
Green Green List (high evidence)	AP5Z1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 48, autosomal recessive, MIM# 613647 MONDO:0013342 Tags
Green Green List (high evidence)	ATL1	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 3A, MIM 182600 Hereditary spastic paraplegia, AR Tags
Green Green List (high evidence)	ATP13A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 78, autosomal recessive, 617225 Kufor-Rakeb syndrome, 606693 AR complicated hereditary spastic paraplegia Adult-onset lower-limb predominant spastic paraparesis Tags
Green Green List (high evidence)	B4GALNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 26, autosomal recessive, 609195 Tags
Green Green List (high evidence)	BSCL2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Silver spastic paraplegia syndrome, 270685 HSP 17, MONDO:0010043 Tags
Green Green List (high evidence)	C19orf12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 4, MIM# 614298 Spastic paraplegia 43, autosomal recessive, MIM# 615043 Tags
Green Green List (high evidence)	CAPN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 76 autosomal recessive, 616907 MONDO:0014827 Tags
Green Green List (high evidence)	CPT1C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 73, autosomal dominant, MIM#616282 MONDO:0014568 Tags
Green Green List (high evidence)	CYP27A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebrotendinous xanthomatosis, 213700 MONDO:0008948 progressive lower extremity spasticity,often disproportionate to any degree of weakness Tags
Green Green List (high evidence)	CYP7B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 MONDO:0010047 Tags
Green Green List (high evidence)	DARS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Brain stem and spinal cord Hypomyelination leg spasticity Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 Tags
Green Green List (high evidence)	DDHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 28, autosomal recessive, 609340 MONDO:0012256 Tags
Green Green List (high evidence)	DDHD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 54, autosomal recessive, MIM# 615033 MONDO:0014018 Tags
Green Green List (high evidence)	ERLIN2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 18, autosomal recessive, MIM# 611225 Spastic paraplegia 18A, autosomal dominant, MIM# 620512 Tags
Green Green List (high evidence)	FA2H	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 35, autosomal recessive, 611026 MONDO:0012866 Tags
Green Green List (high evidence)	FBXO7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Parkinson disease 15, autosomal recessive MIM#260300 Tags
Green Green List (high evidence)	FXN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Friedreich ataxia, 229300 Tags STR SV/CNV
Green Green List (high evidence)	GALC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Krabbe disease MIM#245200 Tags
Green Green List (high evidence)	GBA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 MONDO:0013737 Tags
Green Green List (high evidence)	GBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Polyglucosan body disease, adult form MIM#263570 Tags
Green Green List (high evidence)	GCH1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Tags
Green Green List (high evidence)	GFAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Alexander disease MONDO:0008752 Tags
Green Green List (high evidence)	GJA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hereditary spastic paraplegia Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 Tags
Green Green List (high evidence)	KCNA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary spastic paraplegia and ataxia Tags
Green Green List (high evidence)	KIF1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 30, autosomal dominant MIM# 610357 Spastic paraplegia 30, autosomal recessive 620607 Tags
Green Green List (high evidence)	KIF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 10, autosomal dominant, MIM# 604187 Tags
Green Green List (high evidence)	NIPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 6, autosomal dominant, MIM# 600363 MONDO:0010878 Tags
Green Green List (high evidence)	NOTCH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Tags
Green Green List (high evidence)	OPA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes 3-methylglutaconic aciduria, type III, MIM# 258501 Tags
Green Green List (high evidence)	PCYT2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic paraplegia 82, autosomal recessive, MIM# 618770 global developmental delay regression spastic parapesis or tetraparesis epilepsy progressive cerebral and cerebellar atrophy Tags
Green Green List (high evidence)	PLP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 2, X-linked recessive, 312920 Tags
Green Green List (high evidence)	PNPLA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 39, autosomal recessive, 612020 Tags
Green Green List (high evidence)	POLR3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia Tags deep intronic
Green Green List (high evidence)	PSEN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia, MIM# 607822 Tags
Green Green List (high evidence)	REEP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 31, autosomal dominant, 610250 MONDO:0012453 Tags
Green Green List (high evidence)	RTN2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 12, autosomal dominant, 604805 MONDO:0011489 Tags
Green Green List (high evidence)	SACS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 MONDO:0010041 Tags SV/CNV
Green Green List (high evidence)	SLC25A15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970 Tags
Green Green List (high evidence)	SPAST	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 4, autosomal dominant, 182601 Tags
Green Green List (high evidence)	SPG11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 11, autosomal recessive, MIM# 604360 Tags
Green Green List (high evidence)	SPG21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mast syndrome, 248900 Spastic Paraplegia, autosomal recessive Tags new gene name
Green Green List (high evidence)	SPG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 7, autosomal recessive, 607259 MONDO:0011803 Tags
Green Green List (high evidence)	TUBA4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hereditary ataxia MONDO:0100309, TUBA4A-related Tags
Green Green List (high evidence)	UBAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Royal Melbourne Hospital Phenotypes Spastic paraplegia 80, autosomal dominant 618418 Tags
Green Green List (high evidence)	WASHC5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 8, autosomal dominant, 603563 MONDO:0011339 Tags
Green Green List (high evidence)	ZFYVE26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 MONDO:0010044 Tags
Amber Amber List (moderate evidence)	ATP2B4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Pure and complicated hereditary spastic paraplegia Tags
Amber Amber List (moderate evidence)	BICD2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291 Tags
Amber Amber List (moderate evidence)	GJC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 2, 608804, AR Spastic paraplegia 44, autosomal recessive 613206, AR Tags
Amber Amber List (moderate evidence)	HSPD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic paraplegia 13, autosomal dominant, MIM# 605280 Tags
Amber Amber List (moderate evidence)	LYST	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes spastic paraplegia Spastic paraplegia Chediak-Higashi syndrome, 214500 Tags
Amber Amber List (moderate evidence)	TUBB4A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Royal Melbourne Hospital Phenotypes ataxia Leukodystrophy, hypomyelinating, 612438 AD Dystonia 4, torsion, autosomal dominant, 128101 Tags
Amber Amber List (moderate evidence)	VAMP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spastic ataxia 1, autosomal dominant, 108600 Tags founder
Red Red List (low evidence)	COQ7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Hereditary spastic paraplegia, COQ7-related (MONDO#0019064) Tags
Red Red List (low evidence)	DNM2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Complicated hereditary spastic paraplegia Tags
Red Red List (low evidence)	SLC33A1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Royal Melbourne Hospital Phenotypes Spastic paraplegia 42, autosomal dominant Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD Tags
Red Red List (low evidence)	TSPOAP1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dystonia 22, MIM# 620453 Tags
Red Red List (low evidence)	ZFYVE27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Spastic paraplegia 33, autosomal dominant, MIM#610244 Tags

Hereditary Spastic Paraplegia - adult onset (Version 1.11)

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60 Entities

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