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
APOPT1	gene	APOPT1	Expert Review Red;Royal Melbourne Hospital	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, MIM#220110			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.155	True		ENSG00000256053	ENSG00000256053	HGNC:20492													
COL4A2	gene	COL4A2	Expert Review Red;Royal Melbourne Hospital	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Brain small vessel disease 2, 614483			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	30413629;27624120;24390199		False	1	0;0;100	0.155	True		ENSG00000134871	ENSG00000134871	HGNC:2203													
EARS2	gene	EARS2	Expert Review Red;Royal Melbourne Hospital	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 12, 614924;Leukoencephalopathy with thalamus and brainstem involvement and high lactate			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	22492562;23008233;25854774;26619324;26893310		False	1	0;0;100	0.155	True		ENSG00000103356	ENSG00000103356	HGNC:29419													
GAN	gene	GAN	Expert Review Red;Royal Melbourne Hospital	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Giant axonal neuropathy-1, MIM#256850			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.155	True		ENSG00000261609	ENSG00000261609	HGNC:4137													
MARS	gene	MARS	Expert Review Red;Royal Melbourne Hospital	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Charcot-Marie-Tooth disease, axonal, type 2U, 616280			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.155	True		ENSG00000166986	ENSG00000166986	HGNC:6898													
RPS6KA3	gene	RPS6KA3	Expert Review Red;Royal Melbourne Hospital	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Coffin-Lowry syndrome, 303600			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	16691578		False	1	0;0;100	0.155	True		ENSG00000177189	ENSG00000177189	HGNC:10432													
STXBP2	gene	STXBP2	Expert list;Expert Review Red	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hemophagocytic lymphohistiocytosis, familial, 5 613101			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.155	True		ENSG00000076944	ENSG00000076944	HGNC:11445													
TACO1	gene	TACO1	Expert Review Red;Literature	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy, adult onset			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	33709035		False	1	0;0;100	0.155	True		ENSG00000136463	ENSG00000136463	HGNC:24316													
UNC13D	gene	UNC13D	Expert list;Expert Review Red	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hemophagocytic lymphohistiocytosis, familial, 3 608898			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.155	True		ENSG00000092929	ENSG00000092929	HGNC:23147													
ZNF319	gene	ZNF319	Expert Review Red;Literature	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, MONDO:0019046, ZNF319-related			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	40820230		False	1	0;0;100	0.155	True		ENSG00000166188	ENSG00000166188	HGNC:13644													
LMNB1 upstream region	region		Literature;Literature	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	PMID: 30842973;30697589;25701871		False	1	100;0;0	0.155	False					5			126522203	126689287						80	cnv_loss	LMNB1 upstream region