Inherited white matter disorders (Version 1.186)

Description

This panel is NO LONGER ACTIVELY MAINTAINED.

Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up.

Please consider using an NHS Genomic Medicine Service (GMS) panel instead. The full list of GMS panels can be found here: https://nhsgms-panelapp.genomicsengland.co.uk/panels, with links back to PanelApp should you wish to leave a review on the panel.

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Inherited white matter disorders inclusion criteria (36630)
•	Patients with a proven or suspected inherited white mater disorder on the basis of abnormal white matter on MR imaging reviewed by an expert neuroradiologist.
•	Relevant metabolic investigations completed, for example very long chain fatty acids, white cell enzymes and urine organic acids where indicated

Inherited white matter disorders exclusion criteria (36630)
•	Known genetic cause
•	Evidence of causative environmental cause, for example infection, hypoxia or inflammation
•	Phenotype indicative of other recruitable rare disorder, for example Cockayne syndrome or intracerebral calcification indicative of Aicardi-Goutiere’s syndrome, or a peroxisomal disorder, in which case recruit to relevant category

Prior genetic testing guidance (36630)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Inherited white matter disorders prior genetic testing genes (36630)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 -	Guided by phenotype, for example PLP1 in males with a phenotype suggestive of Pelizaeus-Merzbacher disease or GJA1 in the presence of phenotypic features of oculodentodigital dysplasia.

Closing statement (36630)
These requirements will be kept under continual review during the main programme and may be subject to change

Panel Activity

14 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Ian Berry (Leeds Genetics Laboratory)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Philip Dawson (Leadiant Biosciences)

Group: Other biotech or pharmaceutical
Workplace: Industry
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (Faculty of Health, University of Plymouth)

Group: Other
Workplace: Other
Sharon Whatley (International Porphyria Network)

Group: Other
Workplace: Other

174 Entities

171 reviewed, 129 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 174 Entitiess
Green List (high evidence)	AARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with ovarian failure General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	ABCD1	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Adrenoleukodystrophy, OMIM:300100 Adrenoleukodystrophy, adult, OMIM:300100 Tags gene-therapy-trial
Green List (high evidence)	ACBD5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Retinal dystrophy with leukodystrophy, OMIM:618863 Tags
Green List (high evidence)	ACOX1	3 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 Mitchell syndrome, OMIM:618960 General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	ADAR	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 6, OMIM:615010 General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	AIMP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 3, OMIM:260600 Tags
Green List (high evidence)	ALDH3A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Sjogren-Larsson syndrome, OMIM:270200 General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	ARSA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Metachromatic leukodystrophy (Arylsulfatase A Deficiency) 250100 Tags
Green List (high evidence)	ASPA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 25655951 General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	BCAP31	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Deafness, dystonia and cerebellar hypomyelination, 300475 Tags
Green List (high evidence)	BCS1L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial complex III disorders Tags
Green List (high evidence)	BOLA3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, OMIM:614299 Tags
Green List (high evidence)	CIC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 45 617600 Tags
Green List (high evidence)	CLCN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with ataxia, OMIM:615651 Tags
Green List (high evidence)	CNTNAP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypomyelinating neuropathy, congenital, 3, OMIM:618186 Tags
Green List (high evidence)	COLGALT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brain small vessel disease 3, OMIM:618360 Tags
Green List (high evidence)	COQ2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	COQ8A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary 4, 612016 Spinocerebellar Ataxia Type Tags
Green List (high evidence)	COX10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	COX15	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	CSF1R	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476 Tags adult-onset
Green List (high evidence)	CYP27A1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Cerebrotendinous xanthomatosis, 213700 Tags
Green List (high evidence)	D2HGDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes L2-Hydroxyglutaric aciduria Tags
Green List (high evidence)	DARS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity 615281 Tags new-gene-name
Green List (high evidence)	DARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) General Leukodystrophy & Mitochondrial Leukoencephalopathy Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Tags
Green List (high evidence)	DGUOK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 3 General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	DPYD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes 5-fluorouracil toxicity 274270 Dihydropyrimidine dehydrogenase deficiency 274270 Tags pharmacogenetics
Green List (high evidence)	EARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) General Leukodystrophy & Mitochondrial Leukoencephalopathy Combined oxidative phosphorylation deficiency 12 Tags
Green List (high evidence)	EIF2AK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 Tags missense
Green List (high evidence)	EIF2B1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Childhood Ataxia with Central Nervous System Hypomyelination Leukoencephalopathy with vanishing white matter, 603896 eIF2B related disorder (Vanishing WM Disease or CACH) General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	EIF2B2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Childhood Ataxia with Central Nervous System Hypomyelination Leukoencephalopathy with vanishing white matter, 603896 Ovarioleukodystrophy, 603896 eIF2B related disorder (Vanishing WM Disease or CACH) General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	EIF2B3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Leukoencephalopathy with vanishing white matter 603896 eIF2B related disorder (Vanishing WM Disease or CACH) General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	EIF2B4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Leukoencephaly with vanishing white matter, 603896 Ovarioleukodystrophy, 603896 Tags
Green List (high evidence)	EIF2B5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Ovarioleukodystrophy, 603896 eIF2B related disorder (Vanishing WM Disease or CACH) General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	ERCC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cockayne syndrome UV-sensitive syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	ERCC8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cockayne Syndrome UV-sensitive syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	ETFDH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Glutaric Acidemia IIC Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	FAM126A	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hypomyelination and Congenital Cataract Leukodystrophy, hypomyelinating, 5, 610532 Tags new-gene-name
Green List (high evidence)	FLVCR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 Tags
Green List (high evidence)	FOLR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Neurodegeneration due to cerebral folate transport deficiency 613068 Tags
Green List (high evidence)	FUCA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Fucosidosis General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	GALC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Krabbe disease, OMIM:245200 Tags
Green List (high evidence)	GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIt 618885 Tags
Green List (high evidence)	GBE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Polyglucosan body disease, adult form, OMIM:263570 General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags adult-onset
Green List (high evidence)	GFAP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags dominant-negative
Green List (high evidence)	GFM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 1 Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	GJA1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Illumina TruGenome Clinical Sequencing Services Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Oculodentodigital dysplasia, OMIM:164200 Oculodentodigital dysplasia, autosomal recessive, OMIM:257850 Tags
Green List (high evidence)	GJB1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800 Tags
Green List (high evidence)	GJC2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 2, 608804 Spastic paraplegia 44, autosomal recessive, 613206 Lymphedema, hereditary, IC, 613480 Tags
Green List (high evidence)	HEPACAM	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926 Tags
Green List (high evidence)	HSD17B4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome D-bifunctional protein deficiency General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	HSPD1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 Tags
Green List (high evidence)	IBA57	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 Tags
Green List (high evidence)	IFIH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 7, OMIM:615846 Tags missense
Green List (high evidence)	ISCA2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 4, 616370 Tags founder-effect
Green List (high evidence)	L2HGDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Green List (high evidence)	LAMB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Lissencephaly 5, OMIM:615191 cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077 Tags
Green List (high evidence)	LIG3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes gut dysmotility spasticity ataxia repetitive behaviours neurogenic bladder macular degeneration leukoencephalopathy cerebellar atrophy mitochondrial DNA depletion Tags
Green List (high evidence)	LMNB1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500 Tags gene-duplication
Green List (high evidence)	LYRM7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex III deficiency, nuclear type 8 615838 leukoencephalopathy and complex III deficiency severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle Tags
Green List (high evidence)	MCOLN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mucolipidosis IV 252650 Tags
Green List (high evidence)	MEF2C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations Tags
Green List (high evidence)	MLC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts (MLC) General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	MPLKIP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Trichothiodystrophy, nonphotosensitive Tags
Green List (high evidence)	MTFMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947 combined oxidative phosphorylation defect type 15 MONDO:0013987 Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248 mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 Tags
Green List (high evidence)	NAXE	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 Tags
Green List (high evidence)	NDUFA2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial leukoencephalopathy Tags
Green List (high evidence)	NDUFAF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	NDUFAF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex I deficiency 252010 Tags
Green List (high evidence)	NDUFS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 Tags
Green List (high evidence)	NDUFS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial complex I disorders Leigh syndrome Leigh syndrome associated with mitochondrial complex I deficiency Tags
Green List (high evidence)	NDUFS4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial complex I disorders MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY Mitochondrial complex I deficiency Tags
Green List (high evidence)	NDUFS7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial respiratory chain complex I deficiency General Leukodystrophy & Mitochondrial Leukoencephalopathy Genetic leukoencephalopathies: mitochondrial disorders Leigh syndrome Tags
Green List (high evidence)	NDUFS8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial complex I disorders Leigh syndrome due to mitochondrial complex I deficiency Tags
Green List (high evidence)	NDUFV1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	NKX6-2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Tags
Green List (high evidence)	NUBPL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial complex I deficiency Tags non-coding-known-pathogenic
Green List (high evidence)	PAFAH1B1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Lissencephaly 1, OMIM:607432 Subcortical laminar heterotopia, OMIM:607432 Tags
Green List (high evidence)	PEX1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Peroxisome biogenesis disorder 1A,B Peroxisome biogenesis disorder 1A (Zellweger) Tags
Green List (high evidence)	PEX10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 ZELLWEGER SYNDROME Tags
Green List (high evidence)	PEX12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome Peroxisome biogenesis disorder 3A,B General Leukodystrophy & Mitochondrial Leukoencephalopathy Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder 3B Tags
Green List (high evidence)	PEX13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome Peroxisome biogenesis disorder 11A (Zellweger) Peroxisome biogenesis disorder 11B Tags
Green List (high evidence)	PEX16	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list 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 List (high evidence)	PEX2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 5A (Zellweger) 614866 Peroxisome biogenesis disorder 5B 614867 Tags
Green List (high evidence)	PEX26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome Tags
Green List (high evidence)	PEX3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Peroxisome biogenesis disorder 10A (Zellweger) 614882 Tags
Green List (high evidence)	PEX5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Peroxisome biogenesis disorder 2A (Zellweger) 214110 Peroxisome biogenesis disorder 2B 202370 Tags
Green List (high evidence)	PEX6	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863 Tags
Green List (high evidence)	PI4KA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 Tags
Green List (high evidence)	PLP1	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Other UKGTN Phenotypes Pelizaeus-Merzbacher disease 312080 Spastic paraplegia 2, X-linked 312920 Edit Tags
Green List (high evidence)	POLG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Tags
Green List (high evidence)	POLG2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 Tags
Green List (high evidence)	POLR1C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 11 616494 Tags
Green List (high evidence)	POLR3A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 607694 General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	POLR3B	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381 Tags
Green List (high evidence)	PSAP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Combined SAP deficiency 611721 Gaucher disease, atypical 610539 Krabbe disease, atypical 611722 Metachromatic leukodystrophy due to SAP-b deficiency 249900 Tags
Green List (high evidence)	PYCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Leukodystrophy, hypomyelinating, 10 616420 Tags
Green List (high evidence)	RAB11B	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 Tags
Green List (high evidence)	RARS	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 9, OMIM:616140 Tags new-gene-name
Green List (high evidence)	RNASEH2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres Syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	RNASEH2B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 Tags
Green List (high evidence)	RNASEH2C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres Syndrome 3 General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	RNASET2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Leukoencephalopathy, cystic, without megalencephaly 612951 Tags
Green List (high evidence)	RRM2B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Tags
Green List (high evidence)	SAMHD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres Syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	SCO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 Tags
Green List (high evidence)	SCO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377 Tags
Green List (high evidence)	SCP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Leukoencephalopathy with dystonia and motor neuropathy 613724 Tags
Green List (high evidence)	SDHA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial respiratory chain complex II deficiency, OMIM:252011 Tags
Green List (high evidence)	SDHAF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex II deficiency 252011 Tags
Green List (high evidence)	SDHB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 Tags
Green List (high evidence)	SLC16A2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Phenotypes Allan-Herndon-Dudley syndrome, OMIM:300523 General Leukodystrophy & Mitochondrial Leukoencephalopathy Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease Monocarboxylate transporter 8 deficiency (MCT8) Tags
Green List (high evidence)	SLC17A5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	SLC25A12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hypomyelination, global cerebral 612949 Tags
Green List (high evidence)	SLC25A4	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 Tags
Green List (high evidence)	SNORD118	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 614561 Leukoencephalopathy, brain calcifications and cysts, 614561 Tags locus-type-small-nucleolar
Green List (high evidence)	SOX10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE Tags
Green List (high evidence)	SPART	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Troyer syndrome, OMIM:275900 Tags
Green List (high evidence)	SPG7	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags
Green List (high evidence)	SUCLA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Tags
Green List (high evidence)	SUMF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy Multiple sulfatase deficiency Tags
Green List (high evidence)	SURF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorder Leigh syndrome, due to COX IV deficiency Tags
Green List (high evidence)	TACO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	TMEM106B	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 16, OMIM:617964 Leukodystrophy, hypomyelinating, 16, MONDO:0054791 Tags missense
Green List (high evidence)	TREX1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive 225750 Vasculopathy, retinal, with cerebral leukodystrophy 192315 General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	TUBB4A	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Dystonia 4, torsion, autosomal dominant, 128101 Leukodystrophy, hypomyelinating, 6, 612438 Leukodystrophy, hypomyelinating 6 General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green List (high evidence)	TWNK	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 7 Tags
Green List (high evidence)	TYMP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 1 (MNGIE type) Tags
Green List (high evidence)	VPS11	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 12, OMIM:616683 Tags
Amber List (moderate evidence)	ATP11A	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 24, OMIM:619851 Tags
Amber List (moderate evidence)	ATPAF2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial complex V disorders General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Amber List (moderate evidence)	COQ9	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial Leukoencephalopathy Coenzyme Q10 deficiency, primary, 5 General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Amber List (moderate evidence)	MAL	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes developmental delay nystagmus progressive motor deterioration dysmyelination Tags
Amber List (moderate evidence)	MRPS16	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Combined oxidative phosphorylation deficiency 2 Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Amber List (moderate evidence)	PEX14	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) Tags
Amber List (moderate evidence)	PEX19	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) 614886 Tags
Amber List (moderate evidence)	POLR3K	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 21, OMIM:619310 Tags founder-effect watchlist
Amber List (moderate evidence)	TUFM	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial Leukoencephalopathy Tags
Red List (low evidence)	ADGRG1	1 review	Unknown	Sources UKGTN Phenotypes Cerebral Malformation Disorders Tags
Red List (low evidence)	ARX	2 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 Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cerebral Malformation Disorders Lissencephaly, X-linked 2 300215 Tags
Red List (low evidence)	ATP7A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Menkes disease, MIM#309400 Tags
Red List (low evidence)	COL4A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Tags
Red List (low evidence)	CYP7B1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spastic paraplegia 5A, autosomal recessive, OMIM:270800 Tags
Red List (low evidence)	DCX	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Lissencephaly, X-linked, OMIM:300067 Subcortical laminal heterotopia, X-linked, OMIM:300067 Tags
Red List (low evidence)	EGR2	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Charcot-Marie-Tooth disease,type 1D,607678 Dejerine-Sottas disease,145900 Neuropathy, congenital hypomyelinating, 1, 605253 Tags
Red List (low evidence)	ERCC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	FA2H	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Tags
Red List (low evidence)	HEXA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Tags
Red List (low evidence)	HMBS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red List (low evidence)	HTRA1	1 review 1 green	Not set	Sources UKGTN Phenotypes CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY Tags
Red List (low evidence)	JAM3	1 review 1 red	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 Tags
Red List (low evidence)	MFF	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 Tags
Red List (low evidence)	MPZ	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Congenital Hypomyelination Neuropathy,congenital hypomyelinating,605253 Tags
Red List (low evidence)	NDE1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cerebral Malformation Disorders Lissencephaly, Recessive Lissencephaly 4 (with microcephaly), 614019 Tags
Red List (low evidence)	NOTCH3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources UKGTN Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 Tags
Red List (low evidence)	OCRL	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Lowe syndrome, MIM#309000 Tags
Red List (low evidence)	PHGDH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Phosphoglycerate dehydrogenase deficiency, MIM#601815 Tags
Red List (low evidence)	PMP22	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Neuropathy,inflammatory demyelinating,139393 Tags
Red List (low evidence)	POLR1A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red List (low evidence)	PPT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM#256730 Tags
Red List (low evidence)	PRF1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red List (low evidence)	RELN	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Lissencephaly, Recessive Lissencephaly 2 Lissencephaly 2 (Norman-Roberts type), 257320 Tags
Red List (low evidence)	SDHD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Literature Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex II deficiency 252011 Tags
Red List (low evidence)	SLC13A5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905 Tags
Red List (low evidence)	SLC25A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Global Cerebral Hypomyelination Tags
Red List (low evidence)	SON	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Phenotypes ZTTK SYNDROME Tags
Red List (low evidence)	SPG11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Spastic paralplegia 11, autosomal recessive, MIM#604360 Tags
Red List (low evidence)	TREM2	1 review 1 green	Not set	Sources UKGTN Phenotypes POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY Tags
Red List (low evidence)	TUBA1A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cerebral Malformation Disorders Lissencephaly 3 Lissencephaly, Dominant Lissencephaly 3, 611603 Tags
Red List (low evidence)	TUBA8	1 review 1 red	Not set	Sources UKGTN Phenotypes Cerebral Malformation Disorders Tags
Red List (low evidence)	TUBB2B	1 review 1 red	Not set	Sources UKGTN Phenotypes Cerebral Malformation Disorders Tags
Red List (low evidence)	TYROBP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Nasu-Hakola disease, MIM#221770 Tags
Red List (low evidence)	UNC13D	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red List (low evidence)	ZFYVE26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Spastic paraplegia 15, autosomal recessive, MIM#270700 Tags

Major version comments

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

Inherited white matter disorders (Version 1.186)

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