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
AARS	gene	AARS	Expert list;Expert Review Amber	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	31775912		False	2	0;100;0	0.155	True		ENSG00000090861	ENSG00000090861	HGNC:20													
ANXA11	gene	ANXA11	Expert Review;Expert Review Amber	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Inclusion body myopathy and brain white matter abnormalities, MIM# 619733			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	34048612		False	2	0;100;0	0.155	True		ENSG00000122359	ENSG00000122359	HGNC:535													
ATP7B	gene	ATP7B	Expert list;Expert Review Amber	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Wilson disease, 277900			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	16966556;12020274		False	2	0;100;0	0.155	True		ENSG00000123191	ENSG00000123191	HGNC:870													
CTC1	gene	CTC1	Expert Review Amber;Royal Melbourne Hospital	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebroretinal microangiopathy with calcifications and cysts, 612199			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	22267198;22387016;22532422		False	2	0;100;0	0.155	True		ENSG00000178971	ENSG00000178971	HGNC:26169													
GCDH	gene	GCDH	Expert Review Amber;Royal Melbourne Hospital	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Glutaric aciduria, type I, MIM#231670			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	2	0;100;0	0.155	True		ENSG00000105607	ENSG00000105607	HGNC:4189													
ITM2B	gene	ITM2B	Expert Review Amber;Other	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	ABri amyloidosis MONDO:0008306			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	10775542		False	2	0;100;0	0.155	True	Other	ENSG00000136156	ENSG00000136156	HGNC:6174													
MCOLN1	gene	MCOLN1	Expert Review Amber;Royal Melbourne Hospital	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mucolipidosis IV,  252650			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	2	0;100;0	0.155	True		ENSG00000090674	ENSG00000090674	HGNC:13356													
MLC1	gene	MLC1	Expert Review Amber;Royal Melbourne Hospital	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Megalencephalic leukoencephalopathy with subcortical cysts (MLC);General Leukodystrophy & Mitochondrial Leukoencephalopathy			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	11254442;21419380;21624973		False	2	0;100;0	0.155	True		ENSG00000100427	ENSG00000100427	HGNC:17082													
NPC2	gene	NPC2	Expert list;Expert Review Amber	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Niemann-pick disease, type C2 607625			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	25396745		False	2	0;100;0	0.155	True		ENSG00000119655	ENSG00000119655	HGNC:14537													
PLD3	gene	PLD3	Expert Review Amber;Literature	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	PMID: 34267643		False	2	0;100;0	0.155	False		ENSG00000105223	ENSG00000105223	HGNC:17158													
POLG2	gene	POLG2	Expert Review Amber;Royal Melbourne Hospital	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	25655951		False	2	0;100;0	0.155	True		ENSG00000256525	ENSG00000256525	HGNC:9180													
RNASET2	gene	RNASET2	Expert Review Amber;Royal Melbourne Hospital	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy, cystic, without megalencephaly, 612951			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	19525954		False	2	0;100;0	0.155	True		ENSG00000026297	ENSG00000026297	HGNC:21686													
RNF216	gene	RNF216	Expert Review Amber;Royal Melbourne Hospital	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebellar ataxia and hypogonadotropic hypogonadism, 212840			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	28334938;26250479		False	2	0;100;0	0.155	True		ENSG00000011275	ENSG00000011275	HGNC:21698													
SPAST	gene	SPAST	Expert list;Expert Review Amber	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Spastic paraplegia 4, autosomal dominant 182601			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	23968121		False	2	0;100;0	0.155	True		ENSG00000021574	ENSG00000021574	HGNC:11233													
SPG7	gene	SPG7	Expert list;Expert Review Amber	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spastic paraplegia 7, autosomal recessive 607259			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	20108356;17646629		False	2	0;100;0	0.155	True		ENSG00000197912	ENSG00000197912	HGNC:11237													
TWNK	gene	TWNK	Expert list;Expert Review Amber	Leukodystrophy - adult onset		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245;Perrault syndrome 5 616138;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	31455269;19353676		False	2	0;100;0	0.155	True		ENSG00000107815	ENSG00000107815	HGNC:1160