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
CDK16	gene	CDK16	Expert Review Amber;Literature	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual disability and spastic paraplegia				26350204;25644381		False	2	0;100;0	1.316	False		ENSG00000102225	ENSG00000102225	HGNC:8749													
DARS	gene	DARS	Expert Review Amber;Literature	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Brain stem and spinal cord Hypomyelination;leg spasticity;Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281				23643384;25527264		False	2	0;100;0	1.316	False		ENSG00000115866	ENSG00000115866	HGNC:2678													
GCH1	gene	GCH1	Expert Review Amber;Literature	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dystonia;Spastic paraplegia;progressive spastic paraplegia;Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230				24509643;21935284		False	2	50;50;0	1.316	False		ENSG00000131979	ENSG00000131979	HGNC:4193													
IBA57	gene	IBA57	Expert Review Amber;Literature	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Spastic paraplegia 74, autosomal recessive, OMIM:616451				25609768;30258207		False	2	0;50;50	1.316	False		ENSG00000181873	ENSG00000181873	HGNC:27302													
LYST	gene	LYST	Expert Review Amber;Literature	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	spastic paraplegia;Chediak-Higashi syndrome, 214500				24521565;26307451;25519960;25519961		False	2	0;100;0	1.316	False		ENSG00000143669	ENSG00000143669	HGNC:1968													
MARS2	gene	MARS2	Expert Review Amber;Radboud University Medical Center, Nijmegen	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders		Spastic ataxia 3, autosomal recessive 						False	2	67;33;0	1.316	True		ENSG00000247626	ENSG00000247626	HGNC:25133													
MTPAP	gene	MTPAP	Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ataxia, spastic, 4;Spastic ataxia 4, autosomal recessive						False	2	0;67;33	1.316	True		ENSG00000107951	ENSG00000107951	HGNC:25532													
POLR3K	gene	POLR3K	Expert Review Amber;Literature	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 21, OMIM:619310				30584594;33659930		False	2	0;100;0	1.316	False		ENSG00000161980	ENSG00000161980	HGNC:14121													
SARS2	gene	SARS2	Expert Review Amber;Literature	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845;Progressive Spastic Paresis				21255763;24034276;27279129		False	2	0;100;0	1.316	False		ENSG00000104835	ENSG00000104835	HGNC:17697													
SLC33A1	gene	SLC33A1	Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Hereditary spastic paraplegia	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spastic paraplegia 42, autosomal dominant,				 Lin et al. (2008)		False	2	50;50;0	1.316	True		ENSG00000169359	ENSG00000169359	HGNC:95													
