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
ANXA11	gene	ANXA11	Expert Review Amber;Literature	Adult onset leukodystrophy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Inclusion body myopathy and brain white matter abnormalities, OMIM:619733;inclusion body myopathy and brain white matter abnormalities, MONDO:0850514				34048612		False	2	0;100;0	6.10	False		ENSG00000122359	ENSG00000122359	HGNC:535													
CTC1	gene	CTC1	Expert Review Amber;NHS GMS;Yorkshire and North East GLH	Adult onset leukodystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199				27159321;25527826;28334938;20301621;24357685l22267198;22387016;22532422		False	2	40;60;0	6.10	False		ENSG00000178971	ENSG00000178971	HGNC:26169													
EARS2	gene	EARS2	Expert Review Amber;NHS GMS;Yorkshire and North East GLH	Adult onset leukodystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 12, 614924				27159321;25527826;28334938;20301621;24357685		False	2	40;40;20	6.10	False		ENSG00000103356	ENSG00000103356	HGNC:29419													
HMGCL	gene	HMGCL	Expert Review Amber;NHS GMS;Yorkshire and North East GLH	Adult onset leukodystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	HMG-CoA lyase deficiency, OMIM:246450;3-hydroxy-3-methylglutaric aciduria, MONDO:0009520				27159321;25527826;28334938;20301621;24357685;28583327		False	2	29;57;14	6.10	False		ENSG00000117305	ENSG00000117305	HGNC:5005													
KIF5A	gene	KIF5A	Expert Review Amber;NHS GMS;Yorkshire and North East GLH	Adult onset leukodystrophy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hereditary spastic paraplegia				27159321;25527826;28334938;20301621;24357685		False	2	25;75;0	6.10	False		ENSG00000155980	ENSG00000155980	HGNC:6323													
MAL	gene	MAL	Expert Review Amber;Literature	Adult onset leukodystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	developmental delay;nystagmus;progressive motor deterioration;dysmyelination				35217805		False	2	0;100;0	6.10	False		ENSG00000172005	ENSG00000172005	HGNC:6817													
MARS	gene	MARS	Expert Review Amber;NHS GMS;Yorkshire and North East GLH	Adult onset leukodystrophy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Charcot-Marie-Tooth disease, axonal, type 2U, 616280				27159321;25527826;28334938;20301621;24357685		False	2	33;50;17	6.10	False		ENSG00000166986	ENSG00000166986	HGNC:6898													
NPC1	gene	NPC1	Expert list;Expert Review Amber	Adult onset leukodystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Niemann-Pick disease, type C1/D 257220				26910362;27900365;29406968;31254056		False	2	50;50;0	6.10	False		ENSG00000141458	ENSG00000141458	HGNC:7897													
OCRL	gene	OCRL	Expert Review Amber;NHS GMS;Yorkshire and North East GLH	Adult onset leukodystrophy		Neurology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lowe syndrome,  OMIM:309000				27159321;25527826;28334938;20301621;24357685;33517444;16722554		False	2	29;57;14	6.10	False		ENSG00000122126	ENSG00000122126	HGNC:8108													
POLR1C	gene	POLR1C	Expert Review Amber;NHS GMS;Yorkshire and North East GLH	Adult onset leukodystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 11				27159321;25527826;28334938;20301621;24357685		False	2	33;67;0	6.10	False		ENSG00000171453	ENSG00000171453	HGNC:20194													
PSEN2	gene	PSEN2	Expert list;Expert Review Amber;NHS GMS	Adult onset leukodystrophy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Alzheimer disease-4, OMIM:606889;Alzheimer disease 4, MONDO:0011743				9450781;10631141;14681895;18427071		False	2	0;100;0	6.10	False		ENSG00000143801	ENSG00000143801	HGNC:9509													
RNASET2	gene	RNASET2	Expert Review Amber;NHS GMS;Yorkshire and North East GLH	Adult onset leukodystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy, cystic, without megalencephaly, 612951				27159321;25527826;28334938;20301621;24357685		False	2	33;50;17	6.10	False		ENSG00000026297	ENSG00000026297	HGNC:21686													
TPP2	gene	TPP2	Expert Review Amber;Literature	Adult onset leukodystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	White matter abnormalities;Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220				33586135;25414442;25525876;30533531		False	2	100;0;0	6.10	False		ENSG00000134900	ENSG00000134900	HGNC:12016