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
ATP2B4	gene	ATP2B4	Expert Review Amber;Royal Melbourne Hospital	Hereditary Spastic Paraplegia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pure and complicated hereditary spastic paraplegia			Spasticity;HP:0001257	29691679;25798335;25119969		False	2	0;100;0	1.19	True		ENSG00000058668	ENSG00000058668	HGNC:817													
BICD2	gene	BICD2	Expert list;Expert Review Amber	Hereditary Spastic Paraplegia - adult onset		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290;Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291			Spasticity;HP:0001257	23664120;25497877;24482476		False	2	0;100;0	1.19	True		ENSG00000185963	ENSG00000185963	HGNC:17208													
CPT1C	gene	CPT1C	Expert Review Amber;Royal Melbourne Hospital	Hereditary Spastic Paraplegia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spastic paraplegia 73, autosomal dominant, MIM#616282;MONDO:0014568			Spasticity;HP:0001257	25751282;30911584;30564185;23973755;41312619		False	2	50;50;0	1.19	True		ENSG00000169169	ENSG00000169169	HGNC:18540													
GJC2	gene	GJC2	Expert Review Amber;Royal Melbourne Hospital	Hereditary Spastic Paraplegia - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 2, 608804, AR;Spastic paraplegia 44, autosomal recessive 613206, AR			Spasticity;HP:0001257	19056803;23684670		False	2	0;100;0	1.19	True		ENSG00000198835	ENSG00000198835	HGNC:17494													
HSPD1	gene	HSPD1	Expert Review Amber;Royal Melbourne Hospital	Hereditary Spastic Paraplegia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spastic paraplegia 13, autosomal dominant, MIM# 605280			Spasticity;HP:0001257	26900593;11898127;17420924		False	2	0;100;0	1.19	True		ENSG00000144381	ENSG00000144381	HGNC:5261													
LYST	gene	LYST	Expert Review Amber;Royal Melbourne Hospital	Hereditary Spastic Paraplegia - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	spastic paraplegia;Spastic paraplegia;Chediak-Higashi syndrome, 214500			Spasticity;HP:0001257	26307451;24521565		False	2	0;100;0	1.19	True		ENSG00000143669	ENSG00000143669	HGNC:1968													
TUBB4A	gene	TUBB4A	Expert list;Expert Review Amber;Royal Melbourne Hospital	Hereditary Spastic Paraplegia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	ataxia;Leukodystrophy, hypomyelinating, 612438 AD;Dystonia 4, torsion, autosomal dominant, 128101			Spasticity;HP:0001257	23582646;24850488		False	2	0;100;0	1.19	True		ENSG00000104833	ENSG00000104833	HGNC:20774													
VAMP1	gene	VAMP1	Expert Review Amber;Royal Melbourne Hospital	Hereditary Spastic Paraplegia - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spastic ataxia 1, autosomal dominant, 108600			Spasticity;HP:0001257	22958904		False	2	0;100;0	1.19	True		ENSG00000139190	ENSG00000139190	HGNC:12642