Description
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

8 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: Genomics England

  • 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

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

165 Entities

162 reviewed, 110 green

List Entity Reviews Mode of inheritance Details
165 Entitiess
Green Green List (high evidence)
COQ8A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4
Tags
Green Green List (high evidence)
TWNK
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 7
Tags
Green Green List (high evidence)
AARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy with ovarian failure
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green 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, 300100
  • Adrenomyeloneuropathy, adult, 300100
  • X-Linked Adrenoleukodystrophy
  • Adrenoleukodystrophy, X-linked
  • Adrenoleukodystrophy
Tags
  • gene-therapy-trial
Green Green List (high evidence)
ACOX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency 264470
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
ADAR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
AIMP1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukodystrophy, hypomyelinating, 3 260600
Tags
Green Green List (high evidence)
ALDH3A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Sjogren Larsson syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
ARSA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Metachromatic leukodystrophy (Arylsulfatase A Deficiency) 250100
Tags
Green Green List (high evidence)
ASPA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 25655951
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green 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 Green List (high evidence)
BCS1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex III disorders
Tags
Green 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 Green List (high evidence)
CLCN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chloride Ion Channel 2(ClC-2) related leukoencephalopathy with intramyelinic oedema
  • Leukoencephalopathy with ataxia
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
COQ2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
COX10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial complex IV disorder
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
COX15
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex IV disorders
Tags
Green Green List (high evidence)
CSF1R
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
  • adult-onset
Green Green List (high evidence)
CYP27A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Cerebrotendinous xanthomatosis
Tags
Green Green List (high evidence)
D2HGDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • L2-Hydroxyglutaric aciduria
Tags
Green Green List (high evidence)
DARS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity 615281
Tags
Green Green List (high evidence)
DARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
DGUOK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 3
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green 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 Green List (high evidence)
EARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Combined oxidative phosphorylation deficiency 12
Tags
Green Green List (high evidence)
EIF2B1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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 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 Green List (high evidence)
EIF2B3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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 Green List (high evidence)
EIF2B4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukoencephaly with vanishing white matter, 603896
  • Ovarioleukodystrophy, 603896
Tags
Green Green List (high evidence)
EIF2B5
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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 Green List (high evidence)
ERCC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cockayne syndrome
  • UV-sensitive syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
ERCC8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cockayne Syndrome
  • UV-sensitive syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
ETFDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Glutaric Acidemia IIC
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
FAM126A
3 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
Green 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 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 Green List (high evidence)
FUCA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fucosidosis
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
GALC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Krabbe disease 245200
Tags
Green Green List (high evidence)
GBE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polyglucosan Body Disease (PGBD)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Polyglucosan body disease, adult form
Tags
  • adult-onset
Green Green List (high evidence)
GFAP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
  • dominant-negative
Green Green List (high evidence)
GFM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 1
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green 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 (AD) 164200
  • Oculodentodigital dysplasia, autosomal recessive 257850
Tags
Green 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 Green List (high evidence)
GJC2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukodystrophy, hypomyelinating, 2, 608804
  • Spastic paraplegia 44, autosomal recessive, 613206
  • Lymphedema, hereditary, IC, 613480
Tags
Green Green List (high evidence)
HEPACAM
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
  • 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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • D-bifunctional protein deficiency
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
IBA57
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 3, 615330
Tags
Green Green List (high evidence)
IFIH1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres Syndrome
  • Aicardi-Goutieres syndrome 7
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
  • missense
Green Green List (high evidence)
L2HGDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • L2-Hydroxyglutaric aciduria
Tags
Green Green List (high evidence)
LAMB1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lissencephaly 5, 615191
Tags
Green 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,169500
  • Adult onset autosomal dominant leukodystrophy (ADLD)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
  • gene-duplication
Green 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 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 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 Green List (high evidence)
MLC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
MPLKIP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Trichothiodystrophy, nonphotosensitive
Tags
Green Green List (high evidence)
MTFMT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 15
  • 614947
  • 22499348
  • 23499752
Tags
Green Green List (high evidence)
NDUFAF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Green 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 Green List (high evidence)
NDUFS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial complex I disorders
  • Mitochondrial complex I deficiency
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Tags
Green Green List (high evidence)
NDUFS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex I disorders
  • Leigh syndrome
  • Leigh syndrome associated with mitochondrial complex I deficiency
Tags
Green Green List (high evidence)
NDUFS4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex I disorders
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
  • Mitochondrial complex I deficiency
Tags
Green Green List (high evidence)
NDUFS7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial respiratory chain complex I deficiency
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Genetic leukoencephalopathies: mitochondrial disorders
  • Leigh syndrome
Tags
Green Green List (high evidence)
NDUFS8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex I disorders
  • Leigh syndrome due to mitochondrial complex I deficiency
Tags
Green Green List (high evidence)
NDUFV1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Green 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 Green List (high evidence)
NUBPL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex I deficiency
Tags
  • non-coding-known-pathogenic
Green 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
  • Cerebral Malformation Disorders
  • Lissencephaly 1
  • Lissencephaly/Subcortical Band Heterotopia
Tags
Green Green List (high evidence)
PEX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Peroxisome biogenesis disorder 1A,B
  • Peroxisome biogenesis disorder 1A (Zellweger)
Tags
Green Green List (high evidence)
PEX10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
  • ZELLWEGER SYNDROME
Tags
Green Green List (high evidence)
PEX12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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 Green List (high evidence)
PEX13
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • Peroxisome biogenesis disorder 11A (Zellweger)
  • Peroxisome biogenesis disorder 11B
Tags
Green Green List (high evidence)
PEX16
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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 Green List (high evidence)
PEX26
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
Tags
Green Green List (high evidence)
PEX3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger) 614882
Tags
Green Green List (high evidence)
PEX5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger) 214110
  • Peroxisome biogenesis disorder 2B 202370
Tags
Green Green List (high evidence)
PEX6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger) 614862
  • Peroxisome biogenesis disorder 4B 614863
Tags
Green 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 Review Green
  • Expert list
  • Other
  • UKGTN
Phenotypes
  • Pelizaeus-Merzbacher disease 312080
  • Spastic paraplegia 2, X-linked 312920 Edit
Tags
Green Green List (high evidence)
POLG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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 Green List (high evidence)
POLG2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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 Green List (high evidence)
POLR1C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukodystrophy, hypomyelinating, 11 616494
Tags
Green Green List (high evidence)
POLR3A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • 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 Green List (high evidence)
POLR3B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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 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 Green List (high evidence)
RARS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 9 616140
Tags
Green Green List (high evidence)
RNASEH2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
RNASEH2B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Aicardi-Goutieres syndrome 2
Tags
Green Green List (high evidence)
RNASEH2C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres Syndrome 3
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
RNASET2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukoencephalopathy, cystic, without megalencephaly 612951
Tags
Green Green List (high evidence)
RRM2B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • 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 Green List (high evidence)
SAMHD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
SCO1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex IV deficiency 220110
Tags
Green Green List (high evidence)
SCO2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377
Tags
Green Green List (high evidence)
SCP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy 613724
Tags
Green Green List (high evidence)
SDHAF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex II deficiency 252011
Tags
Green Green List (high evidence)
SDHB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Succinate dehydrogenase-deficient leukoencephalopathy
  • complex II deficiency
Tags
Green 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 Review Green
  • Expert list
Phenotypes
  • Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease
  • Allan-Herndon-Dudley syndrome
  • Monocarboxylate transporter 8 deficiency (MCT8)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
SLC17A5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
SLC25A12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypomyelination, global cerebral 612949
Tags
Green Green List (high evidence)
SLC25A4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
SOX10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy
  • PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
Tags
Green Green List (high evidence)
SUCLA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 5
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Tags
Green Green List (high evidence)
SUMF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Multiple sulfatase deficiency
Tags
Green Green List (high evidence)
SURF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex IV disorder
  • Leigh syndrome, due to COX IV deficiency
Tags
Green Green List (high evidence)
TACO1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
TREX1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • 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 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 Green List (high evidence)
TYMP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Tags
Amber Amber List (moderate evidence)
ATPAF2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex V disorders
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Amber Amber List (moderate evidence)
COQ9
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Coenzyme Q10 deficiency, primary, 5
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Amber Amber List (moderate evidence)
MRPS16
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 2
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Amber Amber List (moderate evidence)
PEX14
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
Tags
Amber Amber List (moderate evidence)
PEX19
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger) 614886
Tags
Amber Amber List (moderate evidence)
TUFM
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Red Red List (low evidence)
ADGRG1
1 review
Unknown
Sources
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red 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 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
  • Cerebral Malformation Disorders
  • Lissencephaly, X-Linked, 1
  • Classic Lissencephaly/Subcortical Band Heterotopia
  • Lissencephaly, X-linked, 300067
  • Subcortical laminal heteropia, X-linked, 300067
Tags
Red 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 Red List (low evidence)
HSPD1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 13, autosomal dominant, 605280
  • Leukodystrophy, hypomyelinating, 4, 612233
Tags
Red 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 Red List (low evidence)
ISCA2
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Tags
  • founder-effect
Red 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 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 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 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 Red List (low evidence)
NOTCH3
1 review
1 green
Not set
Sources
  • UKGTN
Phenotypes
  • CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
Tags
Red Red List (low evidence)
PMP22
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy,inflammatory demyelinating,139393
Tags
Red 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 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 Red List (low evidence)
SLC25A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Global Cerebral Hypomyelination
Tags
Red Red List (low evidence)
SNORD118
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • 614561
Tags
  • locus-type-small-nucleolar
Red Red List (low evidence)
TREM2
1 review
1 green
Not set
Sources
  • UKGTN
Phenotypes
  • POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
Tags
Red 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 Red List (low evidence)
TUBA8
1 review
1 red
Not set
Sources
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TUBB2B
1 review
1 red
Not set
Sources
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Tags
No list No list
ACBD5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Tags
No list No list
ATP7A
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
Phenotypes
  • Menkes disease, MIM#309400
Tags
No list No list
BOLA3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Tags
No list No list
CNTNAP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Tags
No list No list
COL4A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Tags
No list No list
CYP7B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Tags
No list No list
ERCC2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Tags
No list No list
FA2H
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Tags
No list No list
HEXA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Tags
No list No list
HMBS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
No list No list
NAXE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186
Tags
No list No list
NDUFA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Mitochondrial leukoencephalopathy
Tags
No list No list
OCRL
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
Phenotypes
  • Lowe syndrome, MIM#309000
Tags
No list No list
PHGDH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Phosphoglycerate dehydrogenase deficiency, MIM#601815
Tags
No list No list
POLR1A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
No list No list
PPT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1, MIM#256730
Tags
No list No list
PRF1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
No list No list
RAB11B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM#617807
Tags
No list No list
SDHA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Mitochondrial respiratory chain complex II deficiency, MIM#252011
Tags
No list No list
SLC13A5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905
Tags
No list No list
SPART
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Troyer syndrome, MIM#275900
Tags
No list No list
SPG11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spastic paralplegia 11, autosomal recessive, MIM#604360
Tags
No list No list
SPG7
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spastic paraplegia 7, autosomal recessive, MIM#607259
Tags
No list No list
TMEM106B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating 16, MIM#617964
Tags
No list No list
TYROBP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Nasu-Hakola disease, MIM#221770
Tags
No list No list
UNC13D
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
No list No list
VPS11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, MIM#616683
Tags
No list No list
ZFYVE26
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spastic paraplegia 15, autosomal recessive, MIM#270700
Tags

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