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
ARSI	gene	ARSI	NHS GMS;South West GLH;Yorkshire and North East GLH	Adult onset hereditary spastic paraplegia		Neurology	BIALLELIC, autosomal or pseudoautosomal					Novarino et al. (2014);24482476		False	1	0;33;67	6.9	False		ENSG00000183876	ENSG00000183876	HGNC:32521													
CCT5	gene	CCT5	NHS GMS;South West GLH;Yorkshire and North East GLH	Adult onset hereditary spastic paraplegia		Neurology	BIALLELIC, autosomal or pseudoautosomal	Sensory Neuropathy with Spastic Paraplegia;Neuropathy, hereditary sensory, with spastic paraplegia				16399879		False	1	0;33;67	6.9	False		ENSG00000150753	ENSG00000150753	HGNC:1618													
CDK16	gene	CDK16	Expert Review Red;London North GLH;NHS GMS;Yorkshire and North East GLH	Adult onset hereditary spastic paraplegia		Neurology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual disability and spastic paraplegia, x-linked				25644381		False	1	0;33;67	6.9	False		ENSG00000102225	ENSG00000102225	HGNC:8749													
KLC4	gene	KLC4	NHS GMS;South West GLH;Yorkshire and North East GLH	Adult onset hereditary spastic paraplegia		Neurology	BIALLELIC, autosomal or pseudoautosomal	spastic paraplegia;progressive complicated spastic paraplegia				26423925		False	1	0;33;67	6.9	False		ENSG00000137171	ENSG00000137171	HGNC:21624													
MAG	gene	MAG	Expert Review Red;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH	Adult onset hereditary spastic paraplegia		Neurology	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 75, autosomal recessive, OMIM:616680				24482476;26179919;31402626;32629324;32340215		False	1	25;75;0	6.9	False		ENSG00000105695	ENSG00000105695	HGNC:6783													
MARS	gene	MARS	NHS GMS;South West GLH;Yorkshire and North East GLH	Adult onset hereditary spastic paraplegia		Neurology	BIALLELIC, autosomal or pseudoautosomal					Novarino et al. (2014);24482476		False	1	0;33;67	6.9	False		ENSG00000166986	ENSG00000166986	HGNC:6898													
PCDH12	gene	PCDH12	NHS GMS;South West GLH;Yorkshire and North East GLH	Adult onset hereditary spastic paraplegia		Neurology	BIALLELIC, autosomal or pseudoautosomal	microcephaly;perithalamic hyperechogenicity;midbrain abnormalities;intellectual disability;epilepsy;periventricular hyperechogenicity;hypothalamic abnormalities				27164683;29556033		False	1	0;33;67	6.9	False		ENSG00000113555	ENSG00000113555	HGNC:8657													
PGAP1	gene	PGAP1	NHS GMS;South West GLH;Yorkshire and North East GLH	Adult onset hereditary spastic paraplegia		Neurology	BIALLELIC, autosomal or pseudoautosomal					Novarino et al. (2014);24482476		False	1	0;33;67	6.9	False		ENSG00000197121	ENSG00000197121	HGNC:25712													
SLC25A46	gene	SLC25A46	Expert Review Red;London North GLH;NHS GMS;Yorkshire and North East GLH	Adult onset hereditary spastic paraplegia		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neuropathy, hereditary motor and sensory, type VIB, 616505				28369803		False	1	0;33;67	6.9	False		ENSG00000164209	ENSG00000164209	HGNC:25198													
SLC33A1	gene	SLC33A1	Expert Review Red;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH	Adult onset hereditary spastic paraplegia		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD;Spastic paraplegia 42, autosomal dominant				Lin et al. (2008);19061983;25402622		False	1	25;25;50	6.9	False		ENSG00000169359	ENSG00000169359	HGNC:95													
USP8	gene	USP8	NHS GMS;South West GLH;Yorkshire and North East GLH	Adult onset hereditary spastic paraplegia		Neurology	BIALLELIC, autosomal or pseudoautosomal					Novarino et al. (2014);24482476		False	1	0;33;67	6.9	False		ENSG00000138592	ENSG00000138592	HGNC:12631													
ZEB2	gene	ZEB2	NHS GMS;South West GLH;Yorkshire and North East GLH	Adult onset hereditary spastic paraplegia		Neurology								False	1	0;33;67	6.9	False		ENSG00000169554	ENSG00000169554	HGNC:14881													
ZFYVE27	gene	ZFYVE27	NHS GMS;South West GLH;Yorkshire and North East GLH	Adult onset hereditary spastic paraplegia		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spastic paraplegia 33, autosomal dominant				Mannan AU (2006);16826525;22554690;29980238		False	1	0;33;67	6.9	False		ENSG00000155256	ENSG00000155256	HGNC:26559