Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
AMPD2	gene	AMPD2	Expert list;Expert Review Red	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypolplasia (biallelic);Hereditary Spastic Paraplegia?				Novarino et al. (2014)		False	1	0;50;50	1.316	True		ENSG00000116337	ENSG00000116337	HGNC:469													
AP5Z1	gene	AP5Z1	Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 48, autosomal recessive, OMIM:613647				Slabicki et al. (2010) i		False	1	0;67;33	1.316	True		ENSG00000242802	ENSG00000242802	HGNC:22197													
ARL6IP1	gene	ARL6IP1	Expert list;Expert Review Red	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal					Novarino et al. (2014)		False	1	0;100;0	1.316	True		ENSG00000170540	ENSG00000170540	HGNC:697													
ARSI	gene	ARSI	Expert list;Expert Review Red	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal					Novarino et al. (2014)		False	1	0;0;100	1.316	True		ENSG00000183876	ENSG00000183876	HGNC:32521													
CCT5	gene	CCT5	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neuropathy, hereditary sensory, with spastic paraplegia; Sensory Neuropathy with Spastic Paraplegia 						False	1	0;0;100	1.316	True		ENSG00000150753	ENSG00000150753	HGNC:1618													
DSTYK	gene	DSTYK	Other	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 23, 270750				28157540		False	1	0;100;0	1.316	False		ENSG00000133059	ENSG00000133059	HGNC:29043													
GAD1	gene	GAD1	Expert Review Red;Radboud University Medical Center, Nijmegen	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders		Cerebralpalsy,spasticquadriplegic,1,603513						False	1	0;0;100	1.316	True		ENSG00000128683	ENSG00000128683	HGNC:4092													
GJC2	gene	GJC2	Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 44, autosomal recessive 				Orthmann-Murphy et al. (2009) 		False	1	0;67;33	1.316	True		ENSG00000198835	ENSG00000198835	HGNC:17494													
KLC4	gene	KLC4	Expert Review Red;Literature	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	spastic paraplegia;progressive complicated spastic paraplegia				26423925		False	1	0;0;100	1.316	False		ENSG00000137171	ENSG00000137171	HGNC:21624													
MARS	gene	MARS	Expert list;Expert Review Red	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal					Novarino et al. (2014)		False	1	100;0;0	1.316	True		ENSG00000166986	ENSG00000166986	HGNC:6898													
PCDH12	gene	PCDH12	Expert Review	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	intellectual disability;microcephaly;epilepsy;perithalamic hyperechogenicity;periventricular hyperechogenicity;midbrain abnormalities;hypothalamic abnormalities				27164683		False	1	0;0;100	1.316	False		ENSG00000113555	ENSG00000113555	HGNC:8657													
PGAP1	gene	PGAP1	Expert list;Expert Review Red	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal					Novarino et al. (2014)		False	1	0;0;100	1.316	True		ENSG00000197121	ENSG00000197121	HGNC:25712													
PSEN1	gene	PSEN1	Expert Review Red;Radboud University Medical Center, Nijmegen	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders		Alzheimer disease, type 3, with spastic paraparesis and apraxia;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques						False	1	50;50;0	1.316	True		ENSG00000080815	ENSG00000080815	HGNC:9508													
RAB3GAP2	gene	RAB3GAP2	Expert Review Red;Literature	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Martsolf syndrome 1, OMIM:212720;Warburg micro syndrome 2, OMIM:614225				24482476		False	1	0;0;100	1.316	False		ENSG00000118873	ENSG00000118873	HGNC:17168													
TECPR2	gene	TECPR2	Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 49, autosomal recessive, 615031				23176824;26542466		False	1	0;100;0	1.316	True		ENSG00000196663	ENSG00000196663	HGNC:19957													
USP8	gene	USP8	Expert list;Expert Review Red	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal					Novarino et al. (2014)		False	1	0;0;0	1.316	True		ENSG00000138592	ENSG00000138592	HGNC:12631													
VAMP1	gene	VAMP1	Expert Review Red;Radboud University Medical Center, Nijmegen	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spastic ataxia 1, autosomal dominant, 108600				22958904		False	1	0;100;0	1.316	True		ENSG00000139190	ENSG00000139190	HGNC:12642													
VPS37A	gene	VPS37A	Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 53, autosomal recessive 				Zivony-Elboum et al. (2012)		False	1	0;0;0	1.316	True		ENSG00000155975	ENSG00000155975	HGNC:24928													
WDR48	gene	WDR48	Expert list;Expert Review Red	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal					Novarino et al. (2014)		False	1	0;0;100	1.316	True		ENSG00000114742	ENSG00000114742	HGNC:30914													
ZEB2	gene	ZEB2	Expert Review Red;UKGTN	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders								False	1	0;0;100	1.316	True		ENSG00000169554	ENSG00000169554	HGNC:14881													
ZFYVE27	gene	ZFYVE27	Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spastic paraplegia 33, autosomal dominant 				Mannan AU (2006)		False	1	50;0;50	1.316	True		ENSG00000155256	ENSG00000155256	HGNC:26559													
