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
ABCC9	gene	ABCC9	Expert Review Amber;Literature	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability and myopathy syndrome, MIM# 619719			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	31575858		False	2	0;100;0	0.394	True		ENSG00000069431	ENSG00000069431	HGNC:60													
ANXA11	gene	ANXA11	Expert Review;Expert Review Amber	Leukodystrophy		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	0.394	False		ENSG00000122359	ENSG00000122359	HGNC:535													
AQP4	gene	AQP4	Expert Review Amber;Literature	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	37143309		False	2	0;100;0	0.394	True		ENSG00000171885	ENSG00000171885	HGNC:637													
ATP7B	gene	ATP7B	Expert list;Expert Review Amber	Leukodystrophy		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	0.394	False		ENSG00000123191	ENSG00000123191	HGNC:870													
CYP2U1	gene	CYP2U1	Expert list;Expert Review Amber	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 56, autosomal recessive 615030			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	27292318		False	2	0;100;0	0.394	False		ENSG00000155016	ENSG00000155016	HGNC:20582													
ERCC2	gene	ERCC2	Expert list;Expert Review Amber	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Trichothiodystrophy 1, photosensitive 601675			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	29451896		False	2	0;100;0	0.394	False		ENSG00000104884	ENSG00000104884	HGNC:3434													
FBP2	gene	FBP2	Expert list;Expert Review Amber	Leukodystrophy		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Leukodystrophy, childhood-onset, remitting, MIM# 	619864"			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	33977262		False	2	0;100;0	0.394	True		ENSG00000130957	ENSG00000130957	HGNC:3607													
FDX2	gene	FDX2	Expert list;Expert Review Amber	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	30010796		False	2	0;100;0	0.394	True		ENSG00000267673	ENSG00000267673	HGNC:30546													
GCDH	gene	GCDH	Expert Review Amber;Royal Melbourne Hospital	Leukodystrophy		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	0.394	False		ENSG00000105607	ENSG00000105607	HGNC:4189													
GFPT1	gene	GFPT1	Expert list;Expert Review Amber;Expert Review Green;Literature	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Myasthenia, congenital, 12, with tubular aggregates 610542;Leukoencephalopathy			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	30635494		False	2	50;50;0	0.394	False		ENSG00000198380	ENSG00000198380	HGNC:4241													
ITM2B	gene	ITM2B	Expert Review Amber;Other	Leukodystrophy		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	0.394	False	Other	ENSG00000136156	ENSG00000136156	HGNC:6174													
LSM7	gene	LSM7	Expert Review Amber;Literature	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy and cerebellar atrophy, MIM# 621191			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	https://doi.org/10.1016/j.xhgg.2021.100034;39420558		False	2	0;50;50	0.394	True		ENSG00000130332	ENSG00000130332	HGNC:20470													
MAL	gene	MAL	Expert Review Amber;Literature	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 28, MIM#  620978			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	35217805		False	2	0;100;0	0.394	True		ENSG00000172005	ENSG00000172005	HGNC:6817													
NDUFA2	gene	NDUFA2	Expert list;Expert Review Amber	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 13 618235;leukoencephalopathy			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	28857146;32154054;18513682		False	2	0;100;0	0.394	True		ENSG00000131495	ENSG00000131495	HGNC:7685													
NPC2	gene	NPC2	Expert list;Expert Review Amber	Leukodystrophy		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	0.394	False		ENSG00000119655	ENSG00000119655	HGNC:14537													
PLD3	gene	PLD3	Expert Review Amber;Literature	Leukodystrophy		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	0.394	False		ENSG00000105223	ENSG00000105223	HGNC:17158													
PLEKHG2	gene	PLEKHG2	Expert list;Expert Review Amber	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy and acquired microcephaly with or without dystonia 616763			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	26573021		False	2	0;100;0	0.394	False		ENSG00000090924	ENSG00000090924	HGNC:29515													
POLG2	gene	POLG2	Expert Review Amber;Royal Melbourne Hospital	Leukodystrophy		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	0.394	False		ENSG00000256525	ENSG00000256525	HGNC:9180													
POLR1A	gene	POLR1A	Expert list;Expert Review Amber	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 27, MIM# 620675			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	28051070;36917474		False	2	0;67;33	0.394	True		ENSG00000068654	ENSG00000068654	HGNC:17264													
PPT1	gene	PPT1	Expert list;Expert Review Amber	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 1 256730			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	5706364;8576553		False	2	0;100;0	0.394	False		ENSG00000131238	ENSG00000131238	HGNC:9325													
RNF216	gene	RNF216	Expert Review Amber;Royal Melbourne Hospital	Leukodystrophy		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	0.394	False		ENSG00000011275	ENSG00000011275	HGNC:21698													
SLC13A5	gene	SLC13A5	Expert list;Expert Review Amber	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 25 615905			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	27913086		False	2	0;100;0	0.394	False		ENSG00000141485	ENSG00000141485	HGNC:23089													
SLC35B2	gene	SLC35B2	Expert Review Amber;Literature	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, MONDO:0019046, SLC35B2-related			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	35325049		False	2	0;100;0	0.394	True		ENSG00000157593	ENSG00000157593	HGNC:16872													
SLC7A2	gene	SLC7A2	Expert Review Amber;Literature	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, MONDO:0019046, SLC7A2-related			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	41015522		False	2	0;100;0	0.394	True		ENSG00000003989	ENSG00000003989	HGNC:11060													
SPAST	gene	SPAST	Expert list;Expert Review Amber	Leukodystrophy		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	0.394	False		ENSG00000021574	ENSG00000021574	HGNC:11233													
SPG7	gene	SPG7	Expert list;Expert Review Amber	Leukodystrophy		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	0.394	False		ENSG00000197912	ENSG00000197912	HGNC:11237													
TBCB	gene	TBCB	Expert Review Amber;Literature	Leukodystrophy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	PMID: 40856104		False	2	0;100;0	0.394	True		ENSG00000105254	ENSG00000105254	HGNC:1989													
TOMM70	gene	TOMM70	Expert Review Amber;Literature	Leukodystrophy		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Leukodystrophy, MONDO:0019046, TOMM70-related			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	32356556		False	2	0;100;0	0.394	True		ENSG00000154174	ENSG00000154174	HGNC:11985													
TWNK	gene	TWNK	Expert list;Expert Review Amber	Leukodystrophy		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	31455269;19353676		False	2	0;100;0	0.394	True		ENSG00000107815	ENSG00000107815	HGNC:1160