Leukodystrophy - paediatric (Version 0.308)

Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Leukodystrophy, HP:0002415; Abnormal cerebral white matter morphology, HP:0002500; Abnormal CNS myelination, HP:0011400
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease

Description

This panel contains genes that cause white matter disorders (including leukoencephalopathies) with a paediatric onset. It does not include genes associated with an adolescent or adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.

Where onset of symptoms is in late childhood/adolescence, consider using the Leukodystrophy Superpanel, which also includes disorders with onset in adolescence/adulthood.

Panel Activity

20 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Lauren Rogers (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Arina Puzriakova (Genomics England)
Samantha Ayres (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Anna Ritchie (Victorian Clinical Genetics Services)
Lilian Downie (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

210 Entities

156 reviewed, 171 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 210 Entitiess
Green Green List (high evidence)	AARS	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 Green List (high evidence)	ABCD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Adrenoleukodystrophy, MIM# 300100 Tags
Green Green List (high evidence)	ABHD16A	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 Green List (high evidence)	ACBD5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Progressive leukodystrophy syndromic cleft palate ataxia retinal dystrophy Tags
Green Green List (high evidence)	ACER3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, progressive, early childhood-onset, OMIM:617762 Tags
Green Green List (high evidence)	ACOX1	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 Green List (high evidence)	ACTA2	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 Green List (high evidence)	ADAR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 6, MIM# 615010 Tags
Green Green List (high evidence)	AIFM1	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 Green List (high evidence)	AIMP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 3 260600 Tags
Green Green List (high evidence)	ALDH3A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Sjogren-Larsson syndrome, MIM# 270200 Tags
Green Green List (high evidence)	AP4B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic paraplegia 47, autosomal recessive MIM#614066 Tags
Green Green List (high evidence)	APOPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex IV deficiency, MIM# 220110 Tags
Green Green List (high evidence)	ARSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Metachromatic leukodystrophy, MIM# 250100 Tags clinical trial treatable
Green Green List (high evidence)	ASPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Canavan disease, MIM# 271900 Tags
Green Green List (high evidence)	ATP7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Menkes disease, 309400 Tags treatable
Green Green List (high evidence)	AUH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 3-methylglutaconic aciduria, type I, MIM# 250950 Tags
Green Green List (high evidence)	BCAP31	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness, dystonia, and cerebral hypomyelination, 300475 Tags
Green Green List (high evidence)	BCS1L	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial complex III disorders Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	BOLA3	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 Green List (high evidence)	BORCS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), BORCS8-related Tags
Green Green List (high evidence)	C2orf69	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Tags
Green Green List (high evidence)	CIC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Mental retardation, autosomal dominant 45 617600 Tags
Green Green List (high evidence)	CLCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with ataxia, MIM# 615651 Tags
Green Green List (high evidence)	CLDN11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hypomyelinating leukodystrophy-22, MIM#619328 Tags
Green Green List (high evidence)	CLPP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Perrault syndrome 3, MIM#614129 Tags
Green Green List (high evidence)	CNTNAP1	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 Green List (high evidence)	COA7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Tags
Green Green List (high evidence)	COLGALT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brain small vessel disease 3 MIM#618360 Tags
Green Green List (high evidence)	COQ2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Coenzyme Q10 deficiency, primary, 1 Tags
Green Green List (high evidence)	COX10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorder Tags
Green Green List (high evidence)	COX15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorders Tags
Green Green List (high evidence)	CTC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Tags
Green Green List (high evidence)	CYP7B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic paraplegia 5A, autosomal recessive, MIM# 270800 Tags
Green Green List (high evidence)	D2HGDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes L2-Hydroxyglutaric aciduria Tags
Green Green List (high evidence)	DARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 Tags new gene name
Green Green List (high evidence)	DARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 Tags
Green Green List (high evidence)	DCAF17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Woodhouse-Sakati syndrome, MIM# 241080 Tags
Green Green List (high evidence)	DEGS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 18 618404 Tags
Green Green List (high evidence)	DENND5B	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 Green List (high evidence)	DGUOK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 3 Tags
Green Green List (high evidence)	DPYD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dihydropyrimidine dehydrogenase deficiency 274270 5-fluorouracil toxicity 274270 Tags
Green Green List (high evidence)	EARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 12, MIM# 614924 Leukoencephalopathy with thalamus and brainstem involvement and high lactate Tags
Green Green List (high evidence)	EIF2AK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Intellectual disability white matter abnormalities ataxia regression with febrile illness Tags
Green Green List (high evidence)	EIF2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green Green List (high evidence)	EIF2B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green Green List (high evidence)	EIF2B3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green Green List (high evidence)	EIF2B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green Green List (high evidence)	EIF2B5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green Green List (high evidence)	ELOVL1	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 Green List (high evidence)	ENTPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 64, autosomal recessive, MIM# 615683 Tags
Green Green List (high evidence)	EPRS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 15, MIM# 617951 Tags
Green Green List (high evidence)	ERCC6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cockayne syndrome UV-sensitive syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	ERCC8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cockayne Syndrome UV-sensitive syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	ETFDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial Leukoencephalopathy Glutaric Acidemia IIC Tags treatable
Green Green List (high evidence)	FA2H	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 Green List (high evidence)	FAM126A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypomyelination and Congenital Cataract Leukodystrophy, hypomyelinating, 5, 610532 Tags
Green Green List (high evidence)	FIG4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, type 4J 611228 Yunis-Varon syndrome 216340 leukoencephalopathy Tags
Green Green List (high evidence)	FOLR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodegeneration due to cerebral folate transport deficiency 613068 Tags
Green Green List (high evidence)	FUCA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Fucosidosis General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	GALC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Krabbe disease, MIM# 245200 Tags
Green Green List (high evidence)	GFAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Alexander disease, MIM# 203450 Tags
Green Green List (high evidence)	GFM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Combined oxidative phosphorylation deficiency 1 Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	GJC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 2, MIM# 608804 Tags
Green Green List (high evidence)	GLB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes GM1-gangliosidosis, type I, MIM# 230500 GM1-gangliosidosis, type II, MIM# 230600 Tags
Green Green List (high evidence)	GLRX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spasticity, childhood-onset, with hyperglycinemia 616859 Tags
Green Green List (high evidence)	GPRC5B	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 Green List (high evidence)	HEPACAM	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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 Green List (high evidence)	HEXA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Tay-Sachs disease, MIM# 272800 Tags
Green Green List (high evidence)	HIKESHI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 13, MIM#616881 Tags
Green Green List (high evidence)	HMBS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy, porphyria-related, MIM# 620711 Tags
Green Green List (high evidence)	HMGCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMG-CoA lyase deficiency, 246450 Tags treatable
Green Green List (high evidence)	HPDL	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 Green List (high evidence)	HSD17B4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Peroxisome-Associated Disorders & Zellweger Syndrome D-bifunctional protein deficiency Tags
Green Green List (high evidence)	HSPD1	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 Green List (high evidence)	IBA57	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 Green List (high evidence)	IFIH1	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 Green List (high evidence)	ISCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 5 MIM#617613 Tags
Green Green List (high evidence)	ISCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple mitochondrial dysfunctions syndrome 4, 616370 Tags
Green Green List (high evidence)	KARS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Tags
Green Green List (high evidence)	KIF5A	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 Green List (high evidence)	L2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes L-2-hydroxyglutaric aciduria, MIM# 236792 Tags
Green Green List (high evidence)	LIG3	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 Green List (high evidence)	LYRM7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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 Green List (high evidence)	MCOLN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mucolipidosis IV, MIM# 252650 Tags
Green Green List (high evidence)	MEF2C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 Tags
Green Green List (high evidence)	MLC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, MIM# 604004 Tags
Green Green List (high evidence)	MTFMT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Combined oxidative phosphorylation deficiency 15 22499348 23499752 614947 Tags
Green Green List (high evidence)	NAXD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, 618321 Tags
Green Green List (high evidence)	NAXE	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 Green List (high evidence)	NDUFAF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	NDUFAF3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial complex I deficiency 252010 Tags
Green Green List (high evidence)	NDUFS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial complex I deficiency General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial complex I disorders MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	NDUFS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial complex I disorders Leigh syndrome Mitochondrial Leukoencephalopathy Leigh syndrome associated with mitochondrial complex I deficiency Tags
Green Green List (high evidence)	NDUFS4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial complex I deficiency Mitochondrial complex I disorders MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	NDUFS7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial respiratory chain complex I deficiency Leigh syndrome Genetic leukoencephalopathies: mitochondrial disorders Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	NDUFS8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial complex I disorders Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	NDUFV1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	NDUFV2	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 Green List (high evidence)	NFE2L2	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 Green List (high evidence)	NFU1	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 Green List (high evidence)	NKX6-2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Tags
Green Green List (high evidence)	NOTCH1	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 Green List (high evidence)	NPC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Niemann-Pick disease, type C1/D, MIM# 257220 Tags
Green Green List (high evidence)	NUBPL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial complex I deficiency Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	PAFAH1B1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Lissencephaly 1, MIM# 607432 Subcortical laminar heterotopia, MIM# 607432 MONDO:0011830 Tags
Green Green List (high evidence)	PC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pyruvate carboxylase deficiency, MIM#266150 Tags
Green Green List (high evidence)	PEX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 Tags
Green Green List (high evidence)	PEX10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 6B, 614871 Tags
Green Green List (high evidence)	PEX11B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes ?Peroxisome biogenesis disorder 14B, 614920 Tags
Green Green List (high evidence)	PEX12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 3A, 614859 Peroxisome biogenesis disorder 3B, 266510 Tags
Green Green List (high evidence)	PEX13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 11B, 614885 Peroxisome biogenesis disorder 11A (Zellweger), 614883 Tags
Green Green List (high evidence)	PEX14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 13A (Zellweger), 614887 Tags
Green Green List (high evidence)	PEX16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 8A (Zellweger), 614876 Peroxisome biogenesis disorder 8B, 614877 Tags
Green Green List (high evidence)	PEX19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 Tags
Green Green List (high evidence)	PEX2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 5B, 614867 Peroxisome biogenesis disorder 5A (Zellweger) 614866 Tags
Green Green List (high evidence)	PEX26	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872 Peroxisome biogenesis disorder 7B, 614873 Tags
Green Green List (high evidence)	PEX3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 10A (Zellweger), 614882 ?Peroxisome biogenesis disorder 10B, 617370 Tags
Green Green List (high evidence)	PEX5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110 Peroxisome biogenesis disorder 2B, 202370 Tags
Green Green List (high evidence)	PEX6	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), 614862 Peroxisome biogenesis disorder 4B, 614863 Tags
Green Green List (high evidence)	PEX7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisome biogenesis disorder 9B, 614879 Tags
Green Green List (high evidence)	PI4KA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental syndrome with hypomyelinating leukodystrophy Tags
Green Green List (high evidence)	PLP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Pelizaeus-Merzbacher disease, MIM# 312080 Tags
Green Green List (high evidence)	POLG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662 Tags
Green Green List (high evidence)	POLR1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 11, MIM# 616494 Tags
Green Green List (high evidence)	POLR3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694 Tags
Green Green List (high evidence)	POLR3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381 Tags
Green Green List (high evidence)	PPP1R21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383 Hypotonia intellectual disability white matter abnormalities Tags
Green Green List (high evidence)	PSAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 Tags
Green Green List (high evidence)	PTEN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cowden syndrome 1, MIM# 158350 Tags
Green Green List (high evidence)	PYCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 10, MIM# 616420 Tags
Green Green List (high evidence)	RAB11B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 Tags
Green Green List (high evidence)	RARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomcis Health Alliance Leukodystrophy Flagship Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 9 616140 Tags
Green Green List (high evidence)	RNASEH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 4, MIM# 610333 Tags
Green Green List (high evidence)	RNASEH2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 2, MIM# 610181 Tags
Green Green List (high evidence)	RNASEH2C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 3, MIM# 610329 Tags
Green Green List (high evidence)	RNASET2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951 Tags
Green Green List (high evidence)	RNF220	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 Green List (high evidence)	RPIA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ribose 5-phosphate isomerase deficiency, MIM# 608611 Tags
Green Green List (high evidence)	RRM2B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Tags
Green Green List (high evidence)	SAMHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green Green List (high evidence)	SCO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial complex IV deficiency 220110 Tags
Green Green List (high evidence)	SCO2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377 Tags
Green Green List (high evidence)	SDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial respiratory chain complex II deficiency, MIM#252011 Tags
Green Green List (high evidence)	SDHAF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial complex II deficiency 252011 Tags
Green Green List (high evidence)	SDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomcis Health Alliance Leukodystrophy Flagship Expert Review Green Royal Melbourne Hospital 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 Green List (high evidence)	SLC13A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Tags
Green Green List (high evidence)	SLC16A2	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 Green List (high evidence)	SLC17A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Salla disease 604369 Sialic acid storage disorder, infantile 269920 Tags
Green Green List (high evidence)	SLC25A12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypomyelination, global cerebral 612949 Tags
Green Green List (high evidence)	SLC25A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	SNORD118	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy, brain calcifications, and cysts 614561 Tags
Green Green List (high evidence)	SOX10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	SPART	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Troyer syndrome 275900 Tags
Green Green List (high evidence)	SPG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic paraplegia 11, autosomal recessive, MIM# 604360 Tags
Green Green List (high evidence)	SUCLA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 5 Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Tags
Green Green List (high evidence)	SUMF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Multiple sulfatase deficiency Tags
Green Green List (high evidence)	SURF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leigh syndrome, due to COX IV deficiency Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorder Tags
Green Green List (high evidence)	TACO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	TMEM106B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomcis Health Alliance Leukodystrophy Flagship Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating 16, MIM#617964 Tags
Green Green List (high evidence)	TMEM163	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Hypomyelinating leukodystrophy, MONDO:0019046 Tags
Green Green List (high evidence)	TMEM63A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 19, transient infantile 618688 Tags
Green Green List (high evidence)	TREX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Tags
Green Green List (high evidence)	TUBB4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 6, MIM# 612438 Tags
Green Green List (high evidence)	TUFM	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 Green List (high evidence)	TYMP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type) Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	UFM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 14 617899 Tags
Green Green List (high evidence)	VPS11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 12, MIM#616683 Tags founder
Green Green List (high evidence)	WARS	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 Green List (high evidence)	WARS2	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 Green List (high evidence)	ZFYVE26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic paraplegia 15, autosomal recessive, MIM# 270700 Tags
Amber Amber List (moderate evidence)	ABCC9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability and myopathy syndrome, MIM# 619719 Tags
Amber Amber List (moderate evidence)	AQP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 Tags
Amber Amber List (moderate evidence)	ATP11A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 24 , MIM# 619851 Tags
Amber Amber List (moderate evidence)	CNP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 20, MIM# 619071 Tags
Amber Amber List (moderate evidence)	CYP2U1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spastic paraplegia 56, autosomal recessive 615030 Tags
Amber Amber List (moderate evidence)	ERCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Trichothiodystrophy 1, photosensitive 601675 Tags
Amber Amber List (moderate evidence)	FBP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Leukodystrophy, childhood-onset, remitting, MIM# 619864 Tags
Amber Amber List (moderate evidence)	FDX2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 Tags
Amber Amber List (moderate evidence)	GFPT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Literature Phenotypes Myasthenia, congenital, 12, with tubular aggregates 610542 Leukoencephalopathy Tags
Amber Amber List (moderate evidence)	LAMB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cystic leukoencephalopathy Tags
Amber Amber List (moderate evidence)	MAL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy MONDO:0019046, MAL-related Tags
Amber Amber List (moderate evidence)	NDUFA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial complex I deficiency, nuclear type 13 618235 leukoencephalopathy Tags
Amber Amber List (moderate evidence)	PLEKHG2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Leukodystrophy and acquired microcephaly with or without dystonia 616763 Tags
Amber Amber List (moderate evidence)	POLR1A	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Leukodystrophy, hypomyelinating, 27, MIM# 620675 Tags
Amber Amber List (moderate evidence)	POLR3K	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Hypomyelinating leukodystrophy-21, MIM#619310 Tags founder
Amber Amber List (moderate evidence)	PPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Ceroid lipofuscinosis, neuronal, 1 256730 Tags
Amber Amber List (moderate evidence)	SLC13A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Epileptic encephalopathy, early infantile, 25 615905 Tags
Amber Amber List (moderate evidence)	SLC35B2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, MONDO:0019046, SLC35B2-related Tags
Amber Amber List (moderate evidence)	TOMM70	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes White matter abnormalities Developmental delay Regression Movement disorder Tags
Amber Amber List (moderate evidence)	TWNK	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245 Tags
Red Red List (low evidence)	AIMP2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Literature Phenotypes Leukodystrophy, hypomyelinating, 17 618006 Tags
Red Red List (low evidence)	ATPAF2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Tags
Red Red List (low evidence)	COQ8A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Coenzyme Q10 deficiency, primary, 4 612016 Tags
Red Red List (low evidence)	COQ9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Coenzyme Q10 deficiency, primary, 5 614654 Tags
Red Red List (low evidence)	ELP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes neurodevelopmental disorder, MONDO:0700092, ELP1-related Tags
Red Red List (low evidence)	ERCC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Trichothiodystrophy 2, photosensitive 616390 Tags
Red Red List (low evidence)	GTF2H5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Trichothiodystrophy 3, photosensitive 616395 Tags
Red Red List (low evidence)	LSM7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Leukodystrophy fetal death Tags
Red Red List (low evidence)	MPLKIP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Trichothiodystrophy 4, nonphotosensitive 234050 Tags
Red Red List (low evidence)	MRPS16	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomcis Health Alliance Leukodystrophy Flagship Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 2, 610498 Tags
Red Red List (low evidence)	OCLN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Pseudo-TORCH syndrome 1 251290 Tags
Red Red List (low evidence)	OCRL	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Lowe syndrome, 309000 Tags
Red Red List (low evidence)	PHGDH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815 Tags
Red Red List (low evidence)	PRF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2 603553 Tags
Red Red List (low evidence)	PSAT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Neu-Laxova syndrome 2 616038 ?Phosphoserine aminotransferase deficiency 610992 Tags
Red Red List (low evidence)	SCP2	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 Red List (low evidence)	SLC25A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria 615182 Tags
Red Red List (low evidence)	STX11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Hemophagocytic lymphohistiocytosis, familial, 4 603552 Tags
Red Red List (low evidence)	U2AF2	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

Leukodystrophy - paediatric (Version 0.308)

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