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
ADAR	gene	ADAR	Expert Review Red;NHS GMS;Yorkshire and North East GLH	Adult onset leukodystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 6, OMIM:615010				27159321;25527826;28334938;20301621;24357685		False	1	40;40;20	6.10	False		ENSG00000160710	ENSG00000160710	HGNC:225													
ASPA	gene	ASPA	Expert list;Expert Review Red	Adult onset leukodystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Canavan disease, OMIM:271900				Canavan disease, MIM# 271900		False	1	100;0;0	6.10	False		ENSG00000108381	ENSG00000108381	HGNC:756													
CYP7B1	gene	CYP7B1	Expert list;Expert Review Red	Adult onset leukodystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 5A, autosomal recessive , OMIM:270800				19187859;19439420;24117163		False	1	50;50;0	6.10	False		ENSG00000172817	ENSG00000172817	HGNC:2652													
MAN2B1	gene	MAN2B1	Expert list;Expert Review Red	Adult onset leukodystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Mannosidosis, alpha-, types I and II, OMIM:248500				15534274;26212233;33317989		False	1	50;0;50	6.10	False		ENSG00000104774	ENSG00000104774	HGNC:6826													
RPS6KA3	gene	RPS6KA3	Expert Review Red;NHS GMS;Yorkshire and North East GLH	Adult onset leukodystrophy		Neurology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Coffin-Lowry syndrome, OMIM:303600				27159321;25527826;28334938;20301621;24357685		False	1	29;29;43	6.10	False		ENSG00000177189	ENSG00000177189	HGNC:10432