Leukodystrophy - adult onset (Version 0.143)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 103 Entitiess
Green Green List (high evidence)	AARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889 Tags
Green Green List (high evidence)	ABCD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100 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 Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 6, 615010 Tags
Green Green List (high evidence)	ALDH3A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Sjogren-Larsson syndrome, 270200 Tags
Green Green List (high evidence)	APP	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 Green List (high evidence)	ARSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Metachromatic leukodystrophy, 250100 Tags clinical trial treatable
Green Green List (high evidence)	ASPA	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 Green List (high evidence)	AUH	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 Green List (high evidence)	CLCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with ataxia, 615651 Tags
Green Green List (high evidence)	COL4A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 Brain small vessel disease with or without ocular anomalies, 175780 Tags
Green Green List (high evidence)	CSF1R	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 Tags
Green Green List (high evidence)	CST3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes leukodystrophy MONDO:0019046 Tags
Green Green List (high evidence)	CTSA	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 Green List (high evidence)	CYP27A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebrotendinous xanthomatosis, 213700 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 270800 Tags
Green Green List (high evidence)	DARS	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 Green List (high evidence)	DARS2	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 Green List (high evidence)	DCAF17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Woodhouse-Sakati syndrome, MIM#241080 Tags
Green Green List (high evidence)	EIF2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Tags
Green Green List (high evidence)	EIF2B2	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 Green List (high evidence)	EIF2B3	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 Green List (high evidence)	EIF2B4	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 Green List (high evidence)	EIF2B5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Tags
Green Green List (high evidence)	EPRS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 15, MIM#617951 Tags
Green Green List (high evidence)	FTDALS STR	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 Green List (high evidence)	GALC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Krabbe disease, 245200 Tags
Green Green List (high evidence)	GBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Polyglucosan body disease, adult form, 263570 Tags
Green Green List (high evidence)	GFAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Alexander disease, 203450 Tags
Green Green List (high evidence)	GJA1	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 Green List (high evidence)	GJB1	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 Green List (high evidence)	GJC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 2, 608804, Tags
Green Green List (high evidence)	GLA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Fabry disease, Fabry disease, cardiac variant, 301500 Tags
Green Green List (high evidence)	GLB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes GM1-gangliosidosis, type III, MIM#230650 white matter abnormality Tags
Green Green List (high evidence)	GRN	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 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 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 Green List (high evidence)	HEXA	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 Green List (high evidence)	HTRA1	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 Green List (high evidence)	L2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Green Green List (high evidence)	LAMB1	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 Green List (high evidence)	LARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy 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)	LMNB1	1 review 1 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, adult-onset, autosomal dominant, MIM# 169500 Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061 Tags SV/CNV
Green Green List (high evidence)	MAN2B1	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 Green List (high evidence)	MAPT	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes semantic dementia MONDO:0010857 Tags
Green Green List (high evidence)	MTHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Homocystinuria due to MTHFR deficiency, 236250 Tags
Green Green List (high evidence)	NIID STR	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 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)	NOTCH3	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 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 257220 Tags
Green Green List (high evidence)	PAH	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 Green List (high evidence)	PLP1	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 Green List (high evidence)	POLG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Tags
Green Green List (high evidence)	POLR1C	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 11, MIM# 616494 Tags
Green Green List (high evidence)	POLR3A	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 Green List (high evidence)	POLR3B	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 Green List (high evidence)	PRNP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes fatal familial insomnia MONDO:0010808 Tags
Green Green List (high evidence)	PSAP	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 Green List (high evidence)	PSEN1	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 Green List (high evidence)	PSEN2	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 Green List (high evidence)	PTEN	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 Green List (high evidence)	RNASEH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 4, 610333 Tags
Green Green List (high evidence)	RNASEH2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 2, 610181 Tags
Green Green List (high evidence)	RNASEH2C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 3, 610329 Tags
Green Green List (high evidence)	RPIA	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 Green List (high evidence)	SAMHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aicardi-Goutieres syndrome 5, 612952 Tags
Green Green List (high evidence)	SLC17A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	SNORD118	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 614561 Leukoencephalopathy, brain calcifications and cysts, 614561 Tags
Green Green List (high evidence)	SPG11	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 Green List (high evidence)	SPG21	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mast syndrome 248900 Tags new gene name
Green Green List (high evidence)	TPP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Tags
Green Green List (high evidence)	TREM2	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 Green List (high evidence)	TREX1	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 Green List (high evidence)	TUBB4A	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 Green List (high evidence)	TYMP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 Tags
Green Green List (high evidence)	TYROBP	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 Green List (high evidence)	ZFYVE26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 Tags
Amber Amber List (moderate evidence)	AARS	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661 Tags
Amber Amber List (moderate evidence)	ANXA11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 Tags founder
Amber Amber List (moderate evidence)	ATP7B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Wilson disease, 277900 Tags
Amber Amber List (moderate evidence)	C1R	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Other Phenotypes Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080) Leukodystrophy - adult onset Tags
Amber Amber List (moderate evidence)	CTC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 Tags
Amber Amber List (moderate evidence)	GCDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Glutaric aciduria, type I, MIM#231670 Tags
Amber Amber List (moderate evidence)	ITM2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes ABri amyloidosis MONDO:0008306 Tags
Amber Amber List (moderate evidence)	MCOLN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Mucolipidosis IV, 252650 Tags
Amber Amber List (moderate evidence)	MLC1	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 Amber List (moderate evidence)	NPC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Niemann-pick disease, type C2 607625 Tags
Amber Amber List (moderate evidence)	PLD3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy Tags
Amber Amber List (moderate evidence)	POLG2	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 Amber List (moderate evidence)	RNASET2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 Tags
Amber Amber List (moderate evidence)	RNF216	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Tags
Amber Amber List (moderate evidence)	SPAST	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Spastic paraplegia 4, autosomal dominant 182601 Tags
Amber Amber List (moderate evidence)	SPG7	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spastic paraplegia 7, autosomal recessive 607259 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) 271245 Perrault syndrome 5 616138 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286 Tags
Red Red List (low evidence)	APOPT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Mitochondrial complex IV deficiency, MIM#220110 Tags
Red Red List (low evidence)	COL4A2	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 Red List (low evidence)	EARS2	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 Red List (low evidence)	GAN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Giant axonal neuropathy-1, MIM#256850 Tags
Red Red List (low evidence)	MARS	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 Red List (low evidence)	RPS6KA3	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 Red List (low evidence)	STXBP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5 613101 Tags
Red Red List (low evidence)	TACO1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Leukoencephalopathy, adult onset Tags
Red Red List (low evidence)	UNC13D	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Hemophagocytic lymphohistiocytosis, familial, 3 608898 Tags

Leukodystrophy - adult onset (Version 0.143)

11 reviewers

103 Entities

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