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
ATP11A	gene	ATP11A	Expert Review Amber;Literature	Inherited white matter disorders	White matter disorders	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Leukodystrophy, hypomyelinating, 24, OMIM:619851				34403372;39432785		False	2	50;50;0	1.186	False		ENSG00000068650	ENSG00000068650	HGNC:13552													
ATPAF2	gene	ATPAF2	Expert list;Expert Review Amber	Inherited white matter disorders	White matter disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial Leukoencephalopathy;Mitochondrial complex V disorders;General Leukodystrophy & Mitochondrial Leukoencephalopathy				14757859;25655951;21815885 (no variants identified)		False	2	100;0;0	1.186	False		ENSG00000171953	ENSG00000171953	HGNC:18802													
COQ9	gene	COQ9	Expert list;Expert Review Amber	Inherited white matter disorders	White matter disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial Leukoencephalopathy;Coenzyme Q10 deficiency, primary, 5;General Leukodystrophy & Mitochondrial Leukoencephalopathy				19375058;25655951		False	2	100;0;0	1.186	False		ENSG00000088682	ENSG00000088682	HGNC:25302													
MAL	gene	MAL	Expert Review Amber;Literature	Inherited white matter disorders	White matter disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	developmental delay;nystagmus;progressive motor deterioration;dysmyelination				35217805		False	2	0;100;0	1.186	False		ENSG00000172005	ENSG00000172005	HGNC:6817													
MRPS16	gene	MRPS16	Expert list;Expert Review Amber	Inherited white matter disorders	White matter disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 2;Mitochondrial Leukoencephalopathy;General Leukodystrophy & Mitochondrial Leukoencephalopathy				15505824;25655951;18539099		False	2	50;50;0	1.186	False		ENSG00000182180	ENSG00000182180	HGNC:14048													
PEX14	gene	PEX14	Expert list;Expert Review Amber	Inherited white matter disorders	White matter disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome-Associated Disorders & Zellweger Syndrome;PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)				15146459		False	2	0;100;0	1.186	False		ENSG00000142655	ENSG00000142655	HGNC:8856													
PEX19	gene	PEX19	Expert list;Expert Review Amber	Inherited white matter disorders	White matter disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Peroxisome biogenesis disorder 12A (Zellweger)	614886"				20683989		False	2	0;100;0	1.186	False		ENSG00000162735	ENSG00000162735	HGNC:9713													
POLR3K	gene	POLR3K	Expert Review Amber;Literature	Inherited white matter disorders	White matter disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 21, OMIM:619310				30584594;33659930		False	2	0;100;0	1.186	False		ENSG00000161980	ENSG00000161980	HGNC:14121													
TUFM	gene	TUFM	Expert list;Expert Review Amber	Inherited white matter disorders	White matter disorders	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial Leukoencephalopathy				25655951;17160893 (case report);25735936 - summarises the findings of exome analysis in 109 patients. 16 out of 42 patients with a high suspicion of a mitochondrial disorder were reported as having a disease causing mutation found in the mitochondrial gene panel - of which TUFM was one of the genes with the biochemical diagnosis of combined OXPHOS enzyme deficiency.		False	2	100;0;0	1.186	False		ENSG00000178952	ENSG00000178952	HGNC:12420