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
AIMP2	gene	AIMP2	Expert list;Expert Review Red;Literature	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 17 618006			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	29215095		False	1	0;0;100	0.318	False		ENSG00000106305	ENSG00000106305	HGNC:20609													
ATPAF2	gene	ATPAF2	Expert list	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	14757859		False	1	0;0;100	0.318	False		ENSG00000171953	ENSG00000171953	HGNC:18802													
COQ8A	gene	COQ8A	Expert list	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 4 612016			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.318	False		ENSG00000163050	ENSG00000163050	HGNC:16812													
COQ9	gene	COQ9	Expert list	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Coenzyme Q10 deficiency, primary, 5 614654			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.318	False		ENSG00000088682	ENSG00000088682	HGNC:25302													
ELP1	gene	ELP1	Expert Review Red;Literature	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092, ELP1-related			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	PMID: 36864284		False	1	0;0;100	0.318	True		ENSG00000070061	ENSG00000070061	HGNC:5959													
ERCC3	gene	ERCC3	Expert list	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Trichothiodystrophy 2, photosensitive 616390			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.318	False		ENSG00000163161	ENSG00000163161	HGNC:3435													
GTF2H5	gene	GTF2H5	Expert list	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Trichothiodystrophy 3, photosensitive 616395			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.318	False		ENSG00000272047	ENSG00000272047	HGNC:21157													
MPLKIP	gene	MPLKIP	Expert list	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Trichothiodystrophy 4, nonphotosensitive 234050			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.318	False		ENSG00000168303	ENSG00000168303	HGNC:16002													
MRPS16	gene	MRPS16	Australian Genomcis Health Alliance Leukodystrophy Flagship;Expert list;Expert Review Red;Victorian Clinical Genetics Services	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 2, 610498			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.318	False		ENSG00000182180	ENSG00000182180	HGNC:14048													
OCLN	gene	OCLN	Expert list	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pseudo-TORCH syndrome 1 251290			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.318	False		ENSG00000197822	ENSG00000197822	HGNC:8104													
OCRL	gene	OCRL	Expert Review Red;Royal Melbourne Hospital	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lowe syndrome,  309000			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.318	False		ENSG00000122126	ENSG00000122126	HGNC:8108													
PHGDH	gene	PHGDH	Expert list	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neu-Laxova syndrome 1 256520;Phosphoglycerate dehydrogenase deficiency 601815			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.318	False		ENSG00000092621	ENSG00000092621	HGNC:8923													
PRF1	gene	PRF1	Expert list	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hemophagocytic lymphohistiocytosis, familial, 2 603553			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	23443029;21959744		False	1	0;0;100	0.318	False		ENSG00000180644	ENSG00000180644	HGNC:9360													
PSAT1	gene	PSAT1	Expert list	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neu-Laxova syndrome 2 616038;?Phosphoserine aminotransferase deficiency 610992			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.318	False		ENSG00000135069	ENSG00000135069	HGNC:19129													
SCP2	gene	SCP2	Expert Review Red;Royal Melbourne Hospital	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy with dystonia and motor neuropathy 613724			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	16685654;26497993		False	1	0;0;100	0.318	True		ENSG00000116171	ENSG00000116171	HGNC:10606													
SLC25A1	gene	SLC25A1	Expert list	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined D-2- and L-2-hydroxyglutaric aciduria 615182			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	29226520		False	1	0;0;100	0.318	False		ENSG00000100075	ENSG00000100075	HGNC:10979													
STX11	gene	STX11	Expert list	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hemophagocytic lymphohistiocytosis, familial, 4 603552			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500			False	1	0;0;100	0.318	False		ENSG00000135604	ENSG00000135604	HGNC:11429													
U2AF2	gene	U2AF2	Expert Review Red;Literature	Leukodystrophy - paediatric		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535			Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500	34112922;37092751;36747105;37134193		False	1	0;0;100	0.318	True		ENSG00000063244	ENSG00000063244	HGNC:23156