Leukodystrophy_Superpanel (Version 0.466)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 314 Entitiess
Green List (high evidence)	AARS Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epileptic encephalopathy, early infantile, 29, MIM#616339 Tags
Green List (high evidence)	AARS2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889 Tags
Green List (high evidence)	ABCD1 Leukodystrophy - paediatric v0.318	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Adrenoleukodystrophy, MIM# 300100 Tags
Green List (high evidence)	ABCD1 Leukodystrophy - adult onset v0.143	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100 Tags
Green List (high evidence)	ABHD16A Leukodystrophy - paediatric v0.318	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 86, autosomal recessive, MIM# 619735 Intellectual Disability Corpus callosum abnormalities Tags
Green List (high evidence)	ACBD5 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Progressive leukodystrophy syndromic cleft palate ataxia retinal dystrophy Tags
Green List (high evidence)	ACER3 Leukodystrophy - paediatric v0.318	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, progressive, early childhood-onset, OMIM:617762 Tags
Green List (high evidence)	ACOX1 Leukodystrophy - paediatric v0.318	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Mitchell syndrome, MIM# 618960 Tags
Green List (high evidence)	ACTA2 Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes multisystemic smooth muscle dysfunction syndrome MONDO:0013452 Tags
Green List (high evidence)	ACTA2 Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes multisystemic smooth muscle dysfunction syndrome MONDO:0013452 Tags
Green List (high evidence)	ADAR Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Aicardi-Goutieres syndrome 6, 615010 Tags
Green List (high evidence)	ADAR Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 6, MIM# 615010 Tags
Green List (high evidence)	AIFM1 Leukodystrophy - paediatric v0.318	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232 Tags
Green List (high evidence)	AIMP1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 3 260600 Tags
Green List (high evidence)	ALDH3A2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Sjogren-Larsson syndrome, MIM# 270200 Tags
Green List (high evidence)	ALDH3A2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Sjogren-Larsson syndrome, 270200 Tags
Green List (high evidence)	AP4B1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 47, autosomal recessive MIM#614066 Tags
Green List (high evidence)	APOPT1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex IV deficiency, MIM# 220110 Tags
Green List (high evidence)	APP Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes early-onset autosomal dominant Alzheimer disease MONDO:0015140 Tags
Green List (high evidence)	ARSA Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Metachromatic leukodystrophy, MIM# 250100 Tags clinical trial treatable
Green List (high evidence)	ARSA Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Metachromatic leukodystrophy, 250100 Tags clinical trial treatable
Green List (high evidence)	ASPA Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Canavan disease, MIM# 271900 Tags
Green List (high evidence)	ASPA Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Canavan disease, MIM# 271900 Tags
Green List (high evidence)	ATP7A Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Menkes disease, 309400 Tags treatable
Green List (high evidence)	AUH Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes 3-methylglutaconic aciduria, type I, MIM#250950 Tags
Green List (high evidence)	AUH Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 3-methylglutaconic aciduria, type I, MIM# 250950 Tags
Green List (high evidence)	BCAP31 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Deafness, dystonia, and cerebral hypomyelination, 300475 Tags
Green List (high evidence)	BCS1L Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex III disorders Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	BOLA3 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299 Tags
Green List (high evidence)	BORCS8 Leukodystrophy - paediatric v0.318	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987 Tags
Green List (high evidence)	C2orf69 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Tags
Green List (high evidence)	CIC Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Expert list Phenotypes Mental retardation, autosomal dominant 45 617600 Tags
Green List (high evidence)	CLCN2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with ataxia, MIM# 615651 Tags
Green List (high evidence)	CLCN2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with ataxia, 615651 Tags
Green List (high evidence)	CLDN11 Leukodystrophy - paediatric v0.318	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hypomyelinating leukodystrophy-22, MIM#619328 Tags
Green List (high evidence)	CLPP Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Perrault syndrome 3, MIM#614129 Tags
Green List (high evidence)	CNTNAP1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypomyelinating neuropathy, congenital, 3, MIM# 618186 Lethal congenital contracture syndrome 7, MIM# 616286 Tags
Green List (high evidence)	COA7 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Tags
Green List (high evidence)	COL4A1 Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 Brain small vessel disease with or without ocular anomalies, 175780 Tags
Green List (high evidence)	COLGALT1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brain small vessel disease 3 MIM#618360 Tags
Green List (high evidence)	COQ2 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Coenzyme Q10 deficiency, primary, 1 Tags
Green List (high evidence)	COX10 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorder Tags
Green List (high evidence)	COX15 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorders Tags
Green List (high evidence)	CSF1R Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 Tags
Green List (high evidence)	CSMD1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	CST3 Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes leukodystrophy MONDO:0019046 Tags
Green List (high evidence)	CTC1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Tags
Green List (high evidence)	CTSA Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cathepsin-A-related arteriopathy with strokes and leukoencephalopathy Tags
Green List (high evidence)	CYP27A1 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green List (high evidence)	CYP7B1 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 5A, autosomal recessive 270800 Tags
Green List (high evidence)	CYP7B1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 5A, autosomal recessive, MIM# 270800 Tags
Green List (high evidence)	D2HGDH Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes L2-Hydroxyglutaric aciduria Tags
Green List (high evidence)	DARS Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 Tags new gene name
Green List (high evidence)	DARS Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 Tags new gene name
Green List (high evidence)	DARS2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 Tags
Green List (high evidence)	DARS2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Tags
Green List (high evidence)	DCAF17 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Woodhouse-Sakati syndrome, MIM# 241080 Tags
Green List (high evidence)	DCAF17 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Woodhouse-Sakati syndrome, MIM#241080 Tags
Green List (high evidence)	DEGS1 Leukodystrophy - paediatric v0.318	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 18 618404 Tags
Green List (high evidence)	DENND5B Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related Tags
Green List (high evidence)	DGUOK Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 3 Tags
Green List (high evidence)	DPYD Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Dihydropyrimidine dehydrogenase deficiency 274270 5-fluorouracil toxicity 274270 Tags
Green List (high evidence)	EARS2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Combined oxidative phosphorylation deficiency 12, MIM# 614924 Leukoencephalopathy with thalamus and brainstem involvement and high lactate Tags
Green List (high evidence)	EIF2AK2 Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Intellectual disability white matter abnormalities ataxia regression with febrile illness Tags
Green List (high evidence)	EIF2B1 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Tags
Green List (high evidence)	EIF2B1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green List (high evidence)	EIF2B2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green List (high evidence)	EIF2B2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter MONDO:0011380 Tags
Green List (high evidence)	EIF2B3 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green List (high evidence)	EIF2B3 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896, MONDO:0011380 Tags
Green List (high evidence)	EIF2B4 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896, MONDO:0011380 Tags
Green List (high evidence)	EIF2B4 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green List (high evidence)	EIF2B5 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green List (high evidence)	EIF2B5 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Tags
Green List (high evidence)	ELOVL1 Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527 Tags
Green List (high evidence)	ENTPD1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 64, autosomal recessive, MIM# 615683 Tags
Green List (high evidence)	EPRS Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 15, MIM#617951 Tags
Green List (high evidence)	EPRS Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 15, MIM# 617951 Tags
Green List (high evidence)	ERCC6 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Cockayne syndrome UV-sensitive syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	ERCC8 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Cockayne Syndrome UV-sensitive syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	ETFDH Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Glutaric Acidemia IIC Tags treatable
Green List (high evidence)	FA2H Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 35, autosomal recessive, MIM#612319 Tags
Green List (high evidence)	FAM126A Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Hypomyelination and Congenital Cataract Leukodystrophy, hypomyelinating, 5, 610532 Tags
Green List (high evidence)	FIG4 Leukodystrophy - paediatric v0.318	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, type 4J 611228 Yunis-Varon syndrome 216340 leukoencephalopathy Tags
Green List (high evidence)	FOLR1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Neurodegeneration due to cerebral folate transport deficiency 613068 Tags
Green List (high evidence)	FTDALS STR Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 Tags
Green List (high evidence)	FUCA1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Fucosidosis General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	GALC Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Krabbe disease, 245200 Tags
Green List (high evidence)	GALC Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Krabbe disease, MIM# 245200 Tags
Green List (high evidence)	GBE1 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Polyglucosan body disease, adult form, 263570 Tags
Green List (high evidence)	GFAP Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Alexander disease, MIM# 203450 Tags
Green List (high evidence)	GFAP Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Alexander disease, 203450 Tags
Green List (high evidence)	GFM1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 1 Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	GJA1 Leukodystrophy - adult onset v0.143	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary spastic paraplegia Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 Tags
Green List (high evidence)	GJB1 Leukodystrophy - adult onset v0.143	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 Reversible posterior leukoencephalopathy Tags
Green List (high evidence)	GJC2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 2, MIM# 608804 Tags
Green List (high evidence)	GJC2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 2, 608804, Tags
Green List (high evidence)	GLA Leukodystrophy - adult onset v0.143	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Fabry disease, Fabry disease, cardiac variant, 301500 Tags
Green List (high evidence)	GLB1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes GM1-gangliosidosis, type I, MIM# 230500 GM1-gangliosidosis, type II, MIM# 230600 Tags
Green List (high evidence)	GLB1 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes GM1-gangliosidosis, type III, MIM#230650 white matter abnormality Tags
Green List (high evidence)	GLRX5 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spasticity, childhood-onset, with hyperglycinemia 616859 Tags
Green List (high evidence)	GPRC5B Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447 Tags
Green List (high evidence)	GRN Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842 Tags
Green List (high evidence)	HEPACAM Leukodystrophy - adult onset v0.143	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 Tags
Green List (high evidence)	HEPACAM Leukodystrophy - paediatric v0.318	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926 Tags
Green List (high evidence)	HEXA Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Tay-Sachs disease, MIM# 272800 Tags
Green List (high evidence)	HEXA Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800 Tags
Green List (high evidence)	HIKESHI Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 13, MIM#616881 Tags
Green List (high evidence)	HMBS Leukodystrophy - paediatric v0.318	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, porphyria-related, MIM# 620711 Tags
Green List (high evidence)	HMGCL Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMG-CoA lyase deficiency, 246450 Tags treatable
Green List (high evidence)	HPDL Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026 Progressive neurological disorder Leigh-like syndrome Tags
Green List (high evidence)	HSD17B4 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Peroxisome-Associated Disorders & Zellweger Syndrome D-bifunctional protein deficiency Tags
Green List (high evidence)	HSPD1 Leukodystrophy - paediatric v0.318	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 13, autosomal dominant, 605280 Leukodystrophy, hypomyelinating, 4, 612233 Tags
Green List (high evidence)	HTRA1 Leukodystrophy - adult onset v0.143	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 CARASIL syndrome, 600142 Tags
Green List (high evidence)	IBA57 Leukodystrophy - paediatric v0.318	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 Tags
Green List (high evidence)	IFIH1 Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 7 MIM#615846 Tags
Green List (high evidence)	ISCA1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Multiple mitochondrial dysfunctions syndrome 5 MIM#617613 Tags
Green List (high evidence)	ISCA2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple mitochondrial dysfunctions syndrome 4, 616370 Tags
Green List (high evidence)	KARS Leukodystrophy - paediatric v0.318	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Tags
Green List (high evidence)	KIF5A Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myoclonus, intractable, neonatal, MIM#617235 Tags
Green List (high evidence)	L2HGDH Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Green List (high evidence)	L2HGDH Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes L-2-hydroxyglutaric aciduria, MIM# 236792 Tags
Green List (high evidence)	LAMB1 Leukodystrophy - adult onset v0.143	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Leukodystrophy, MONDO:0019046, LAMB1-related Retinal Vascular Abnormality mild intellectual disability white matter lesions lower limb spasticity Tags
Green List (high evidence)	LARS2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy Tags
Green List (high evidence)	LIG3 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Tags
Green List (high evidence)	LIG3 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Tags
Green List (high evidence)	LMNB1 Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Phenotypes Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500 Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061 Tags SV/CNV
Green List (high evidence)	LYRM7 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes 615838 Mitochondrial complex III deficiency, nuclear type 8 leukoencephalopathy and complex III deficiency severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle Tags
Green List (high evidence)	MAN2B1 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mannosidosis, alpha-, types I and II, MIM#248500 Tags
Green List (high evidence)	MAPT Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes semantic dementia MONDO:0010857 Tags
Green List (high evidence)	MCOLN1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mucolipidosis IV, MIM# 252650 Tags
Green List (high evidence)	MEF2C Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 Tags
Green List (high evidence)	MLC1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, MIM# 604004 Tags
Green List (high evidence)	MTFMT Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 15 22499348 23499752 614947 Tags
Green List (high evidence)	MTHFR Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Homocystinuria due to MTHFR deficiency, 236250 Tags
Green List (high evidence)	NAXD Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, 618321 Tags
Green List (high evidence)	NAXE Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186 Tags
Green List (high evidence)	NDUFAF1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	NDUFAF3 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex I deficiency 252010 Tags
Green List (high evidence)	NDUFS1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex I deficiency General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial complex I disorders MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	NDUFS2 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex I disorders Leigh syndrome Mitochondrial Leukoencephalopathy Leigh syndrome associated with mitochondrial complex I deficiency Tags
Green List (high evidence)	NDUFS4 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex I deficiency Mitochondrial complex I disorders MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	NDUFS7 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial respiratory chain complex I deficiency Leigh syndrome Genetic leukoencephalopathies: mitochondrial disorders Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	NDUFS8 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex I disorders Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	NDUFV1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	NDUFV2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229) Tags
Green List (high evidence)	NFE2L2 Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591 Disorders of glutathione metabolism Tags
Green List (high evidence)	NFU1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple mitochondrial dysfunctions syndrome 1, MIM#605711 Tags
Green List (high evidence)	NIID STR Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags
Green List (high evidence)	NKX6-2 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Tags
Green List (high evidence)	NOTCH1 Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Tags
Green List (high evidence)	NOTCH1 Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Tags
Green List (high evidence)	NOTCH3 Leukodystrophy - adult onset v0.143	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes neurodevelopmental disorder MONDO:0700092, NOTCH3-related Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310 Tags
Green List (high evidence)	NPC1 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Niemann-Pick disease, type C1/D 257220 Tags
Green List (high evidence)	NPC1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Niemann-Pick disease, type C1/D, MIM# 257220 Tags
Green List (high evidence)	NUBPL Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex I deficiency Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	PAFAH1B1 Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Lissencephaly 1, MIM# 607432 Subcortical laminar heterotopia, MIM# 607432 MONDO:0011830 Tags
Green List (high evidence)	PAH Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600 Tags treatable
Green List (high evidence)	PC Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pyruvate carboxylase deficiency, MIM#266150 Tags
Green List (high evidence)	PEX1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 Tags
Green List (high evidence)	PEX10 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 6B, 614871 Tags
Green List (high evidence)	PEX11B Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes ?Peroxisome biogenesis disorder 14B, 614920 Tags
Green List (high evidence)	PEX12 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 3A, 614859 Peroxisome biogenesis disorder 3B, 266510 Tags
Green List (high evidence)	PEX13 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 11B, 614885 Peroxisome biogenesis disorder 11A (Zellweger), 614883 Tags
Green List (high evidence)	PEX14 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 13A (Zellweger), 614887 Tags
Green List (high evidence)	PEX16 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 8A (Zellweger), 614876 Peroxisome biogenesis disorder 8B, 614877 Tags
Green List (high evidence)	PEX19 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 Tags
Green List (high evidence)	PEX2 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 5B, 614867 Peroxisome biogenesis disorder 5A (Zellweger) 614866 Tags
Green List (high evidence)	PEX26 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872 Peroxisome biogenesis disorder 7B, 614873 Tags
Green List (high evidence)	PEX3 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 10A (Zellweger), 614882 ?Peroxisome biogenesis disorder 10B, 617370 Tags
Green List (high evidence)	PEX5 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110 Peroxisome biogenesis disorder 2B, 202370 Tags
Green List (high evidence)	PEX6 Leukodystrophy - paediatric v0.318	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), 614862 Peroxisome biogenesis disorder 4B, 614863 Tags
Green List (high evidence)	PEX7 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Peroxisome biogenesis disorder 9B, 614879 Tags
Green List (high evidence)	PI4KA Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental syndrome with hypomyelinating leukodystrophy Tags
Green List (high evidence)	PLP1 Leukodystrophy - adult onset v0.143	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pelizaeus-Merzbacher disease, 312080 Tags
Green List (high evidence)	PLP1 Leukodystrophy - paediatric v0.318	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Pelizaeus-Merzbacher disease, MIM# 312080 Tags
Green List (high evidence)	POLG Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Tags
Green List (high evidence)	POLG Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662 Tags
Green List (high evidence)	POLR1C Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 11, MIM# 616494 Tags
Green List (high evidence)	POLR1C Leukodystrophy - adult onset v0.143	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 11, MIM# 616494 Tags
Green List (high evidence)	POLR3A Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694 Tags
Green List (high evidence)	POLR3A Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 Tags
Green List (high evidence)	POLR3B Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 Tags
Green List (high evidence)	POLR3B Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381 Tags
Green List (high evidence)	POLR3K Leukodystrophy - paediatric v0.318	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes POLR3-related leukodystrophy MONDO:0700282 Tags founder
Green List (high evidence)	PPP1R21 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383 Hypotonia intellectual disability white matter abnormalities Tags
Green List (high evidence)	PRNP Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes fatal familial insomnia MONDO:0010808 Tags
Green List (high evidence)	PSAP Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 Tags
Green List (high evidence)	PSAP Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900 Krabbe disease, atypical, 611722 Tags
Green List (high evidence)	PSEN1 Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes early-onset autosomal dominant Alzheimer disease MONDO:0015140 Tags
Green List (high evidence)	PSEN2 Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes early-onset autosomal dominant Alzheimer disease MONDO:0015140 Tags
Green List (high evidence)	PTEN Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cowden syndrome 1, MIM# 158350 Tags
Green List (high evidence)	PTEN Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cowden syndrome 1, MIM# 158350 Tags
Green List (high evidence)	PYCR2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 10, MIM# 616420 Tags
Green List (high evidence)	RAB11B Leukodystrophy - paediatric v0.318	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 Tags
Green List (high evidence)	RARS Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 9 616140 Tags
Green List (high evidence)	RNASEH2A Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Aicardi-Goutieres syndrome 4, 610333 Tags
Green List (high evidence)	RNASEH2A Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 4, MIM# 610333 Tags
Green List (high evidence)	RNASEH2B Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 2, MIM# 610181 Tags
Green List (high evidence)	RNASEH2B Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Aicardi-Goutieres syndrome 2, 610181 Tags
Green List (high evidence)	RNASEH2C Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Aicardi-Goutieres syndrome 3, 610329 Tags
Green List (high evidence)	RNASEH2C Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 3, MIM# 610329 Tags
Green List (high evidence)	RNASET2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951 Tags
Green List (high evidence)	RNF220 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688 Leukodystrophy CNS hypomyelination Ataxia Intellectual disability Sensorineural hearing impairment Elevated hepatic transaminases Hepatic fibrosis Dilated cardiomyopathy Spastic paraplegia Dysarthria Abnormality of the corpus callosum Tags founder
Green List (high evidence)	RPIA Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Royal Melbourne Hospital Phenotypes Ribose 5-phosphate isomerase deficiency, MIM#608611 Tags
Green List (high evidence)	RPIA Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ribose 5-phosphate isomerase deficiency, MIM# 608611 Tags
Green List (high evidence)	RRM2B Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Tags
Green List (high evidence)	SAMHD1 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 5, 612952 Tags
Green List (high evidence)	SAMHD1 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green List (high evidence)	SCO1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex IV deficiency 220110 Tags
Green List (high evidence)	SCO2 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377 Tags
Green List (high evidence)	SDHA Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial respiratory chain complex II deficiency, MIM#252011 Tags
Green List (high evidence)	SDHAF1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex II deficiency 252011 Tags
Green List (high evidence)	SDHB Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Phenotypes Succinate dehydrogenase-deficient leukoencephalopathy Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224 Complex II deficiency mitochondrial leucoencephalopathy Tags
Green List (high evidence)	SLC13A3 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Tags
Green List (high evidence)	SLC16A2 Leukodystrophy - paediatric v0.318	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523 Hypomyelination Tags
Green List (high evidence)	SLC17A5 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	SLC17A5 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Salla disease 604369 Sialic acid storage disorder, infantile 269920 Tags
Green List (high evidence)	SLC25A12 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Hypomyelination, global cerebral 612949 Tags
Green List (high evidence)	SLC25A4 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	SNORD118 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, brain calcifications, and cysts 614561 Tags
Green List (high evidence)	SNORD118 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Phenotypes 614561 Leukoencephalopathy, brain calcifications and cysts, 614561 Tags
Green List (high evidence)	SOX10 Leukodystrophy - paediatric v0.318	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Phenotypes peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	SPART Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Troyer syndrome 275900 Tags
Green List (high evidence)	SPG11 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2X, 616668 Spastic paraplegia 11, autosomal recessive, MIM#604360 Tags
Green List (high evidence)	SPG11 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 11, autosomal recessive, MIM# 604360 Tags
Green List (high evidence)	SPG21 Leukodystrophy - adult onset v0.143	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mast syndrome 248900 Tags new gene name
Green List (high evidence)	SUCLA2 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 5 Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Tags
Green List (high evidence)	SUMF1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Multiple sulfatase deficiency Tags
Green List (high evidence)	SURF1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Leigh syndrome, due to COX IV deficiency Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorder Tags
Green List (high evidence)	TACO1 Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	TMEM106B Leukodystrophy - paediatric v0.318	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating 16, MIM#617964 Tags
Green List (high evidence)	TMEM163 Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Hypomyelinating leukodystrophy, MONDO:0019046 Tags
Green List (high evidence)	TMEM63A Leukodystrophy - paediatric v0.318	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 19, transient infantile 618688 Tags
Green List (high evidence)	TPP2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Tags
Green List (high evidence)	TREM2 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 Tags
Green List (high evidence)	TREX1 Leukodystrophy - paediatric v0.318	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Tags
Green List (high evidence)	TREX1 Leukodystrophy - adult onset v0.143	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 Vasculopathy, retinal, with cerebral leukodystrophy, 192315 Tags
Green List (high evidence)	TUBB4A Leukodystrophy - paediatric v0.318	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 6, MIM# 612438 Tags
Green List (high evidence)	TUBB4A Leukodystrophy - adult onset v0.143	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 6, MIM#612438 Tags
Green List (high evidence)	TUFM Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Combined oxidative phosphorylation deficiency 4, MIM# 610678 Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	TYMP Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 Tags
Green List (high evidence)	TYMP Leukodystrophy - paediatric v0.318	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type) Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	TYROBP Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 Tags
Green List (high evidence)	UFM1 Leukodystrophy - paediatric v0.318	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 14 617899 Tags
Green List (high evidence)	VPS11 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 12, MIM#616683 Tags founder
Green List (high evidence)	WARS Leukodystrophy - paediatric v0.318	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317 Tags
Green List (high evidence)	WARS2 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710 Tags
Green List (high evidence)	ZFYVE26 Leukodystrophy - adult onset v0.143	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 Tags
Green List (high evidence)	ZFYVE26 Leukodystrophy - paediatric v0.318	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 15, autosomal recessive, MIM# 270700 Tags
Amber List (moderate evidence)	AARS Leukodystrophy - adult onset v0.143	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661 Tags
Amber List (moderate evidence)	ABCC9 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability and myopathy syndrome, MIM# 619719 Tags
Amber List (moderate evidence)	ANXA11 Leukodystrophy - adult onset v0.143	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 Tags founder
Amber List (moderate evidence)	AQP4 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 Tags
Amber List (moderate evidence)	ATP11A Leukodystrophy - paediatric v0.318	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 24 , MIM# 619851 Tags
Amber List (moderate evidence)	ATP7B Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Wilson disease, 277900 Tags
Amber List (moderate evidence)	C1R Leukodystrophy - adult onset v0.143	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Literature Phenotypes Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080) Leukodystrophy - adult onset Tags
Amber List (moderate evidence)	CNP Leukodystrophy - paediatric v0.318	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 20, MIM# 619071 Tags
Amber List (moderate evidence)	CTC1 Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 Tags
Amber List (moderate evidence)	CYP2U1 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 56, autosomal recessive 615030 Tags
Amber List (moderate evidence)	ERCC2 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Trichothiodystrophy 1, photosensitive 601675 Tags
Amber List (moderate evidence)	FBP2 Leukodystrophy - paediatric v0.318	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Leukodystrophy, childhood-onset, remitting, MIM# 619864 Tags
Amber List (moderate evidence)	FDX2 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 Tags
Amber List (moderate evidence)	GCDH Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Glutaric aciduria, type I, MIM#231670 Tags
Amber List (moderate evidence)	GFPT1 Leukodystrophy - paediatric v0.318	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Green Literature Phenotypes Myasthenia, congenital, 12, with tubular aggregates 610542 Leukoencephalopathy Tags
Amber List (moderate evidence)	ITM2B Leukodystrophy - adult onset v0.143	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes ABri amyloidosis MONDO:0008306 Tags
Amber List (moderate evidence)	LAMB1 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cystic leukoencephalopathy Tags
Amber List (moderate evidence)	LSM7 Leukodystrophy - paediatric v0.318	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes leukodystrophy MONDO:0019046, LRM7-related Tags
Amber List (moderate evidence)	MAL Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 28, MIM# 620978 Tags
Amber List (moderate evidence)	MCOLN1 Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Mucolipidosis IV, 252650 Tags
Amber List (moderate evidence)	MLC1 Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts (MLC) General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Amber List (moderate evidence)	NDUFA2 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial complex I deficiency, nuclear type 13 618235 leukoencephalopathy Tags
Amber List (moderate evidence)	NPC2 Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Niemann-pick disease, type C2 607625 Tags
Amber List (moderate evidence)	PLD3 Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy Tags
Amber List (moderate evidence)	PLEKHG2 Leukodystrophy - paediatric v0.318	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber Expert list Expert list Phenotypes Leukodystrophy and acquired microcephaly with or without dystonia 616763 Tags
Amber List (moderate evidence)	POLG2 Leukodystrophy - adult onset v0.143	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 Tags
Amber List (moderate evidence)	POLR1A Leukodystrophy - paediatric v0.318	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Leukodystrophy, hypomyelinating, 27, MIM# 620675 Tags
Amber List (moderate evidence)	PPT1 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 1 256730 Tags
Amber List (moderate evidence)	RNASET2 Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 Tags
Amber List (moderate evidence)	RNF216 Leukodystrophy - adult onset v0.143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Tags
Amber List (moderate evidence)	SLC13A5 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Epileptic encephalopathy, early infantile, 25 615905 Tags
Amber List (moderate evidence)	SLC35B2 Leukodystrophy - paediatric v0.318	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, MONDO:0019046, SLC35B2-related Tags
Amber List (moderate evidence)	SPAST Leukodystrophy - adult onset v0.143	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 4, autosomal dominant 182601 Tags
Amber List (moderate evidence)	SPG7 Leukodystrophy - adult onset v0.143	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 7, autosomal recessive 607259 Tags
Amber List (moderate evidence)	TOMM70 Leukodystrophy - paediatric v0.318	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes White matter abnormalities Developmental delay Regression Movement disorder Tags
Amber List (moderate evidence)	TWNK Leukodystrophy - paediatric v0.318	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245 Tags
Amber List (moderate evidence)	TWNK Leukodystrophy - adult onset v0.143	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245 Perrault syndrome 5 616138 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286 Tags
Red List (low evidence)	AIMP2 Leukodystrophy - paediatric v0.318	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Expert list Phenotypes Leukodystrophy, hypomyelinating, 17 618006 Tags
Red List (low evidence)	APOPT1 Leukodystrophy - adult onset v0.143	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Mitochondrial complex IV deficiency, MIM#220110 Tags
Red List (low evidence)	ATPAF2 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Tags
Red List (low evidence)	COL4A2 Leukodystrophy - adult onset v0.143	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Brain small vessel disease 2, 614483 Tags
Red List (low evidence)	COQ8A Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Coenzyme Q10 deficiency, primary, 4 612016 Tags
Red List (low evidence)	COQ9 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Coenzyme Q10 deficiency, primary, 5 614654 Tags
Red List (low evidence)	EARS2 Leukodystrophy - adult onset v0.143	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Combined oxidative phosphorylation deficiency 12, 614924 Leukoencephalopathy with thalamus and brainstem involvement and high lactate Tags
Red List (low evidence)	ELP1 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes neurodevelopmental disorder, MONDO:0700092, ELP1-related Tags
Red List (low evidence)	ERCC3 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Trichothiodystrophy 2, photosensitive 616390 Tags
Red List (low evidence)	GAN Leukodystrophy - adult onset v0.143	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Giant axonal neuropathy-1, MIM#256850 Tags
Red List (low evidence)	GTF2H5 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Trichothiodystrophy 3, photosensitive 616395 Tags
Red List (low evidence)	MARS Leukodystrophy - adult onset v0.143	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, axonal, type 2U, 616280 Tags
Red List (low evidence)	MPLKIP Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Trichothiodystrophy 4, nonphotosensitive 234050 Tags
Red List (low evidence)	MRPS16 Leukodystrophy - paediatric v0.318	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 2, 610498 Tags
Red List (low evidence)	OCLN Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Pseudo-TORCH syndrome 1 251290 Tags
Red List (low evidence)	OCRL Leukodystrophy - paediatric v0.318	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Royal Melbourne Hospital Expert Review Red Phenotypes Lowe syndrome, 309000 Tags
Red List (low evidence)	PHGDH Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815 Tags
Red List (low evidence)	PRF1 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2 603553 Tags
Red List (low evidence)	PSAT1 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Neu-Laxova syndrome 2 616038 ?Phosphoserine aminotransferase deficiency 610992 Tags
Red List (low evidence)	RPS6KA3 Leukodystrophy - adult onset v0.143	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Coffin-Lowry syndrome, 303600 Tags
Red List (low evidence)	SCP2 Leukodystrophy - paediatric v0.318	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Leukoencephalopathy with dystonia and motor neuropathy 613724 Tags
Red List (low evidence)	SLC25A1 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria 615182 Tags
Red List (low evidence)	STX11 Leukodystrophy - paediatric v0.318	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Hemophagocytic lymphohistiocytosis, familial, 4 603552 Tags
Red List (low evidence)	STXBP2 Leukodystrophy - adult onset v0.143	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5 613101 Tags
Red List (low evidence)	TACO1 Leukodystrophy - adult onset v0.143	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Leukoencephalopathy, adult onset Tags
Red List (low evidence)	U2AF2 Leukodystrophy - paediatric v0.318	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 Tags
Red List (low evidence)	UNC13D Leukodystrophy - adult onset v0.143	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Hemophagocytic lymphohistiocytosis, familial, 3 608898 Tags

Leukodystrophy_Superpanel (Version 0.466)

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