White matter disorders and cerebral calcification

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 191 Entitiess
Green Green List (high evidence)	AARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukoencephalopathy with ovarian failure General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	ABCD1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Adrenomyeloneuropathy, adult, 300100 Adrenoleukodystrophy, X-linked Adrenoleukodystrophy Adrenoleukodystrophy, 300100 X-Linked Adrenoleukodystrophy Tags
Green Green List (high evidence)	ACOX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisomal acyl-CoA oxidase deficiency 264470 General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	ACP5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia Spondyloenchondrodysplasia with immune dysregulation Tags
Green Green List (high evidence)	ADAR	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aicardi-Goutieres Syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Aicardi-Goutieres syndrome Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis Aicardi-Goutieres syndrome 6 Tags
Green Green List (high evidence)	AIMP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 3 Tags
Green Green List (high evidence)	ALDH3A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sjogren Larsson syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	AP1S2	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Calcifications in basal ganglia Mental retardation, X-linked syndromic 5, 304340 Tags
Green Green List (high evidence)	ARSA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Metachromatic leukodystrophy, 250100 Arylsulfatase A Deficiency Tags
Green Green List (high evidence)	ASPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy, 25655951 Tags
Green Green List (high evidence)	BCAP31	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Deafness, dystonia and cerebellar hypomyelination, 300475 Tags
Green Green List (high evidence)	BCS1L	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex III disorders Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	CIC	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Mental retardation, autosomal dominant 45 617600 Tags
Green Green List (high evidence)	CLCN2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukoencephalopathy with ataxia General Leukodystrophy & Mitochondrial Leukoencephalopathy Chloride Ion Channel 2(ClC-2) related leukoencephalopathy with intramyelinic oedema Tags
Green Green List (high evidence)	COL4A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification Porencephaly 1 Tags
Green Green List (high evidence)	COQ2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial Leukoencephalopathy Coenzyme Q10 deficiency, primary, 1 Tags
Green Green List (high evidence)	COQ8A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary 4, 612016 Spinocerebellar Ataxia Type Tags
Green Green List (high evidence)	COX10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorder Tags
Green Green List (high evidence)	COX15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex IV disorders Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	CSF1R	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	CTC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coats Plus syndrome Cerebroretinal microangiopathy with calcifications and cysts, 612199 Tags
Green Green List (high evidence)	CYP27A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Cerebrotendinous xanthomatosis, 213700 Tags
Green Green List (high evidence)	CYP2U1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic paraplegia 56, autosomal recessive Tags
Green Green List (high evidence)	D2HGDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes L2-Hydroxyglutaric aciduria Tags
Green Green List (high evidence)	DARS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity Tags
Green Green List (high evidence)	DARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Tags
Green Green List (high evidence)	DDB2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 Tags
Green Green List (high evidence)	DGUOK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 Phenotypes Dihydropyrimidine dehydrogenase deficiency 5-fluorouracil toxicity 274270 Tags
Green Green List (high evidence)	EARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) Combined oxidative phosphorylation deficiency 12 Tags
Green Green List (high evidence)	EIF2B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood Ataxia with Central Nervous System Hypomyelination General Leukodystrophy & Mitochondrial Leukoencephalopathy eIF2B related disorder (Vanishing WM Disease or CACH) Tags
Green Green List (high evidence)	EIF2B2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood Ataxia with Central Nervous System Hypomyelination General Leukodystrophy & Mitochondrial Leukoencephalopathy eIF2B related disorder (Vanishing WM Disease or CACH) Ovarioleukodystrophy, 603896 Tags
Green Green List (high evidence)	EIF2B3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Leukoencephalopathy with vanishing white matter 603896 eIF2B related disorder (Vanishing WM Disease or CACH) Tags
Green Green List (high evidence)	EIF2B4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ovarioleukodystrophy, 603896 Leukoencephaly with vanishing white matter, 603896 Tags
Green Green List (high evidence)	EIF2B5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Ovarioleukodystrophy, 603896 General Leukodystrophy & Mitochondrial Leukoencephalopathy eIF2B related disorder (Vanishing WM Disease or CACH) Tags
Green Green List (high evidence)	ERCC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma Pigmentosum Tags
Green Green List (high evidence)	ERCC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group D, 278730 Trichothiodystrophy, 601675 Tags
Green Green List (high evidence)	ERCC3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group B, 610651 Trichothiodystrophy, 601675 Tags
Green Green List (high evidence)	ERCC4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 Xeroderma pigmentosum, group F, 278760 Tags
Green Green List (high evidence)	ERCC5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group G, 278780 Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 Tags
Green Green List (high evidence)	ERCC6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes De Sanctis-Cacchione syndrome PMID: 26204423 Cockayne syndrome UV-sensitive syndrome Cockayne syndrome phenotype and UV-sensitive syndrome Cockayne syndrome B UV-sensitive syndrome 1 Intercranial Calcifications Cockayne syndrome, type B General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	ERCC8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PMID: 26204423 UV-sensitive syndrome Cockayne syndrome phenotype and UV-sensitive syndrome Cockayne syndrome, type A General Leukodystrophy & Mitochondrial Leukoencephalopathy Cockayne Syndrome Tags
Green Green List (high evidence)	ETFDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutaric Acidemia IIC Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	FAM126A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypomyelination and Congenital Cataract Leukodystrophy, hypomyelinating, 5, 610532 Tags
Green Green List (high evidence)	FLVCR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 Tags
Green Green List (high evidence)	FOLR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 Phenotypes Fucosidosis General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	GALC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Krabbe disease Tags
Green Green List (high evidence)	GBE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Polyglucosan body disease, adult form Polyglucosan Body Disease (PGBD) Tags
Green Green List (high evidence)	GFAP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	GFM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Combined oxidative phosphorylation deficiency 1 Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	GJA1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Oculodentodigital dysplasia, autosomal recessive 257850 Oculodentodigital dysplasia (AD) 164200 Tags
Green Green List (high evidence)	GJB1	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 Tags
Green Green List (high evidence)	GJC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic paraplegia 44, autosomal recessive, 613206 Leukodystrophy, hypomyelinating, 2, 608804 Lymphedema, hereditary, IC, 613480 Tags
Green Green List (high evidence)	GTF2H5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Photosensitive trichothiodystrophy 3 Trichothiodystrophy 3, photosensitive Tags
Green Green List (high evidence)	HEPACAM	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts (MLC) General Leukodystrophy & Mitochondrial Leukoencephalopathy Megalencephalic leukoencephalopathy with subcortical cysts 2A Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation Tags
Green Green List (high evidence)	HSD17B4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy D-bifunctional protein deficiency Tags
Green Green List (high evidence)	IBA57	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 3, 615330 Tags
Green Green List (high evidence)	IFIH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Aicardi-Goutieres Syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Aicardi-Goutieres syndrome 7, 615846 Aicardi-Goutieres syndrome 7 Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis Tags
Green Green List (high evidence)	JAM3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 Tags
Green Green List (high evidence)	L2HGDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Green Green List (high evidence)	LAMB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lissencephaly 5, 615191 Tags
Green Green List (high evidence)	LMNB1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Leukodystrophy,adult-onset, autosomal dominant,169500 General Leukodystrophy & Mitochondrial Leukoencephalopathy Adult onset autosomal dominant leukodystrophy (ADLD) Tags
Green Green List (high evidence)	LYRM7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex III deficiency, nuclear type 8 leukoencephalopathy and complex III deficiency 615838 severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle Tags
Green Green List (high evidence)	MCOLN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucolipidosis IV Tags
Green Green List (high evidence)	MEF2C	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations Tags
Green Green List (high evidence)	MLC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts (MLC) General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	MPLKIP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Non-photosensitive trichothiodystrophy 4 Trichothiodystrophy, nonphotosensitive Tags
Green Green List (high evidence)	MTFMT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 15 22499348 614947 23499752 Tags
Green Green List (high evidence)	NDUFAF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	NDUFAF3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency Tags
Green Green List (high evidence)	NDUFS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency Mitochondrial complex I disorders General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial Leukoencephalopathy MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY Tags
Green Green List (high evidence)	NDUFS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I disorders Leigh syndrome associated with mitochondrial complex I deficiency Mitochondrial Leukoencephalopathy Leigh syndrome Tags
Green Green List (high evidence)	NDUFS4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency Mitochondrial complex I disorders Mitochondrial Leukoencephalopathy MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY Tags
Green Green List (high evidence)	NDUFS7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Genetic leukoencephalopathies: mitochondrial disorders General Leukodystrophy & Mitochondrial Leukoencephalopathy Leigh syndrome Mitochondrial Leukoencephalopathy Mitochondrial respiratory chain complex I deficiency Tags
Green Green List (high evidence)	NDUFS8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 Phenotypes Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	NKX6-2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy Tags
Green Green List (high evidence)	NUBPL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	OCLN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Severe developmental delay with microcephaly Band-like calcification with simplified gyration and polymicrogyria Band-like calcification with simplified gyration and polymicrogyria, 251290 Tags
Green Green List (high evidence)	PAFAH1B1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Lissencephaly 1 Cerebral Malformation Disorders Lissencephaly/Subcortical Band Heterotopia Tags
Green Green List (high evidence)	PDGFB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Fahr syndrome Basal ganglia calcification, idiopathic, 5, 615483 Tags
Green Green List (high evidence)	PDGFRB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Fahr syndrome Calcifications in basal ganglia Basal ganglia calcification idiopathic 4, 615007 Tags
Green Green List (high evidence)	PEX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome Peroxisome biogenesis disorder 1A,B General Leukodystrophy & Mitochondrial Leukoencephalopathy Peroxisome biogenesis disorder 1A (Zellweger) Tags
Green Green List (high evidence)	PEX10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome ZELLWEGER SYNDROME PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 Tags
Green Green List (high evidence)	PEX12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome Peroxisome biogenesis disorder 3A (Zellweger) General Leukodystrophy & Mitochondrial Leukoencephalopathy Peroxisome biogenesis disorder 3B Peroxisome biogenesis disorder 3A,B Tags
Green Green List (high evidence)	PEX13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome Peroxisome biogenesis disorder 11A (Zellweger) Peroxisome biogenesis disorder 11B Tags
Green Green List (high evidence)	PEX16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome Peroxisome biogenesis disorder 8A, (Zellweger) Peroxisome biogenesis disorder 8B PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 Tags
Green Green List (high evidence)	PEX2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome biogenesis disorder 5A (Zellweger) Tags
Green Green List (high evidence)	PEX26	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome Tags
Green Green List (high evidence)	PEX3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome biogenesis disorder 10A (Zellweger) 614882 Tags
Green Green List (high evidence)	PEX5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome biogenesis disorder 2A (Zellweger) Tags
Green Green List (high evidence)	PEX6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome biogenesis disorder 4B 614863 Peroxisome biogenesis disorder 4A (Zellweger) 614862 Tags
Green Green List (high evidence)	PLP1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Spastic paraplegia 2, X-linked 312920 Edit Pelizaeus-Merzbacher disease 312080 Tags
Green Green List (high evidence)	POLG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 Tags
Green Green List (high evidence)	POLG2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Tags
Green Green List (high evidence)	POLH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, variant type, 278750 Tags
Green Green List (high evidence)	POLR1C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 11 Tags
Green Green List (high evidence)	POLR3A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Tags
Green Green List (high evidence)	POLR3B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 Pol III-Related Leukodystrophy General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	PSAP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined SAP deficiency Tags
Green Green List (high evidence)	PYCR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 10 616420 Tags
Green Green List (high evidence)	RARS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 9 616140 Tags
Green Green List (high evidence)	RNASEH2A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aicardi-Goutieres syndrome 4 Aicardi-Goutieres Syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	RNASEH2B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aicardi-Goutieres Syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Aicardi-Goutieres syndrome 2 Tags
Green Green List (high evidence)	RNASEH2C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aicardi-Goutieres Syndrome 3 Aicardi-Goutieres Syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Aicardi-Goutieres syndrome 3 Tags
Green Green List (high evidence)	RNASET2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukoencephalopathy, cystic, without megalencephaly Tags
Green Green List (high evidence)	RRM2B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) Tags
Green Green List (high evidence)	SAMHD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aicardi-Goutieres Syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Aicardi-Goutieres syndrome Tags
Green Green List (high evidence)	SCO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex IV deficiency Tags
Green Green List (high evidence)	SCO2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Tags
Green Green List (high evidence)	SCP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukoencephalopathy with dystonia and motor neuropathy Tags
Green Green List (high evidence)	SDHAF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex II deficiency 252011 Tags
Green Green List (high evidence)	SDHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Succinate dehydrogenase-deficient leukoencephalopathy complex II deficiency Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	SLC16A2	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease Monocarboxylate transporter 8 deficiency (MCT8) Allan-Herndon-Dudley syndrome Tags
Green Green List (high evidence)	SLC17A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	SLC20A2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Fahr syndrome Basal ganglia calcification, idiopathic, 1, 213600 Familial Idiopathic Basal Ganglia Calcification Tags
Green Green List (high evidence)	SLC25A12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypomyelination, global cerebral Tags
Green Green List (high evidence)	SLC25A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	SOX10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy Tags
Green Green List (high evidence)	SUCLA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 5 Tags
Green Green List (high evidence)	SUMF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 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 Phenotypes Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	TREM2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY Calcifications in basal ganglia Nasu-Hakola disease Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) Tags
Green Green List (high evidence)	TREX1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive 225750 General Leukodystrophy & Mitochondrial Leukoencephalopathy Aicardi-Gouti res syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy Aicardi-Goutieres syndrome 1, dominant and recessive Vasculopathy, retinal, with cerebral leukodystrophy 192315 Tags
Green Green List (high evidence)	TUBB4A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 6, 612438 General Leukodystrophy & Mitochondrial Leukoencephalopathy Leukodystrophy, hypomyelinating 6 Dystonia 4, torsion, autosomal dominant, 128101 Tags
Green Green List (high evidence)	TWNK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 7 General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	TYMP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 1 (MNGIE type) Tags
Green Green List (high evidence)	USP18	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes pseudo-TORCH syndrome Tags
Green Green List (high evidence)	XPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group A, 278700 Tags
Green Green List (high evidence)	XPC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group C, 278720 Tags
Green Green List (high evidence)	XPR1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Basal ganglia calcification, idiopathic, 6, 616413 Basal ganglia calcification (Fahr syndrome) Tags
Amber Amber List (moderate evidence)	ATPAF2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mitochondrial complex V disorders General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial Leukoencephalopathy Tags
Amber Amber List (moderate evidence)	COQ9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Coenzyme Q10 deficiency, primary, 5 General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial Leukoencephalopathy Tags
Amber Amber List (moderate evidence)	GTF2E2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Trichothiodystrophy 6, nonphotosensitive 616943 Tags
Amber Amber List (moderate evidence)	MRE11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Nijmegen breakage syndrome-like severe microcephaly Tags
Amber Amber List (moderate evidence)	MRPS16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Combined oxidative phosphorylation deficiency 2 Mitochondrial Leukoencephalopathy Tags
Amber Amber List (moderate evidence)	PEX14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) Tags
Amber Amber List (moderate evidence)	PEX19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) Tags
Amber Amber List (moderate evidence)	TUFM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mitochondrial Leukoencephalopathy Tags
Red Red List (low evidence)	ACBD5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	ADGRG1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	ARX	0 reviews	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 Phenotypes 300215 Cerebral Malformation Disorders Lissencephaly, X-linked 2 Tags
Red Red List (low evidence)	ATP7A	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Menkes disease, MIM#309400 Tags
Red Red List (low evidence)	BOLA3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	CNTNAP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	CYP7B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	DCX	0 reviews	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 Phenotypes Lissencephaly, X-Linked, 1 Subcortical laminal heteropia, X-linked, 300067 Cerebral Malformation Disorders Lissencephaly, X-linked, 300067 Classic Lissencephaly/Subcortical Band Heterotopia Tags
Red Red List (low evidence)	DDB1	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	EGR2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Neuropathy, congenital hypomyelinating, 1, 605253 Charcot-Marie-Tooth disease,type 1D,607678 Dejerine-Sottas disease,145900 Tags
Red Red List (low evidence)	FA2H	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	HEXA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	HMBS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	HSPD1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Leukodystrophy, hypomyelinating, 4, 612233 Spastic paraplegia 13, autosomal dominant, 605280 Tags
Red Red List (low evidence)	HTRA1	0 reviews	Unknown	Sources Expert Review Red Phenotypes CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY Tags
Red Red List (low evidence)	ISCA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	MAT1A	0 reviews	Unknown	Sources Expert Review Red Phenotypes Calcifications in basal ganglia Methionine adenosyltransferase deficiency, autosomal recessive Tags
Red Red List (low evidence)	MFF	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 Tags
Red Red List (low evidence)	MPZ	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Neuropathy,congenital hypomyelinating,605253 Congenital Hypomyelination Tags
Red Red List (low evidence)	NAXE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186 Tags
Red Red List (low evidence)	NDE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Lissencephaly 4 (with microcephaly), 614019 Lissencephaly, Recessive Cerebral Malformation Disorders Tags
Red Red List (low evidence)	NDUFA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial leukoencephalopathy Tags
Red Red List (low evidence)	NOTCH3	0 reviews	Unknown	Sources Expert Review Red Phenotypes CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY Tags
Red Red List (low evidence)	OCRL	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Lowe syndrome, MIM#309000 Tags
Red Red List (low evidence)	PCDH12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes microcephaly intellectual disability perithalamic hyperechogenicity hypothalamic abnormalities periventricular hyperechogenicity epilepsy midbrain abnormalities Tags
Red Red List (low evidence)	PHGDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Phosphoglycerate dehydrogenase deficiency, MIM#601815 Tags
Red Red List (low evidence)	PMP22	0 reviews	Unknown	Sources Expert Review Red Phenotypes Neuropathy,inflammatory demyelinating,139393 Tags
Red Red List (low evidence)	POLR1A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	PPT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM#256730 Tags
Red Red List (low evidence)	PRF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	RAB11B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM#617807 Tags
Red Red List (low evidence)	RELN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Lissencephaly, Recessive Lissencephaly 2 Lissencephaly 2 (Norman-Roberts type), 257320 Tags
Red Red List (low evidence)	RNF113A	0 reviews	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 Phenotypes ?Trichothiodystrophy 5, nonphotosensitive Tags
Red Red List (low evidence)	SCN2A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Epileptic encephalopathy, early infantile, 11 Seizures, benign familial infantile, 3 Tags
Red Red List (low evidence)	SDHA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial respiratory chain complex II deficiency, MIM#252011 Tags
Red Red List (low evidence)	SDHD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial complex II deficiency Tags
Red Red List (low evidence)	SLC13A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905 Tags
Red Red List (low evidence)	SLC25A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Global Cerebral Hypomyelination Tags
Red Red List (low evidence)	SNORD118	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes 614561 Tags
Red Red List (low evidence)	SPART	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Troyer syndrome, MIM#275900 Tags
Red Red List (low evidence)	SPG11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spastic paralplegia 11, autosomal recessive, MIM#604360 Tags
Red Red List (low evidence)	SPG7	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spastic paraplegia 7, autosomal recessive, MIM#607259 Tags
Red Red List (low evidence)	TMEM106B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Leukodystrophy, hypomyelinating 16, MIM#617964 Tags
Red Red List (low evidence)	TUBA1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Lissencephaly 3 Lissencephaly, Dominant Cerebral Malformation Disorders Lissencephaly 3, 611603 Tags
Red Red List (low evidence)	TUBA8	0 reviews	Unknown	Sources Expert Review Red Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	TUBB2B	0 reviews	Unknown	Sources Expert Review Red Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	TYROBP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Nasu-Hakola disease, MIM#221770 Tags
Red Red List (low evidence)	UNC13D	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	VPS11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Leukodystrophy, hypomyelinating, 12, MIM#616683 Tags
Red Red List (low evidence)	ZFYVE26	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spastic paraplegia 15, autosomal recessive, MIM#270700 Tags

White matter disorders and cerebral calcification - narrow panel (Version 1.5)

191 Entities

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