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

7 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

136 genes

126 reviewed, 109 green

List Gene Reviews Mode of inheritance Details
136 genes
Green Green List (high evidence)
COQ8A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4
Green Green List (high evidence)
TWNK
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 7
Green Green List (high evidence)
AARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with ovarian failure
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
ABCD1
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
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
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency 264470
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
ADAR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
AIMP1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 3 260600
Green Green List (high evidence)
ALDH3A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sjogren Larsson syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
ARSA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Metachromatic leukodystrophy (Arylsulfatase A Deficiency) 250100
Green Green List (high evidence)
ASPA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 25655951
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
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
Green Green List (high evidence)
BCS1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex III disorders
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
Green Green List (high evidence)
CLCN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Chloride Ion Channel 2(ClC-2) related leukoencephalopathy with intramyelinic oedema
  • Leukoencephalopathy with ataxia
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
COQ2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
COX10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV disorder
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
COX15
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex IV disorders
Green Green List (high evidence)
CSF1R
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
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
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Cerebrotendinous xanthomatosis
Green Green List (high evidence)
D2HGDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • L2-Hydroxyglutaric aciduria
Green Green List (high evidence)
DARS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity 615281
Green Green List (high evidence)
DARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
DGUOK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 3
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
DPYD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
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
Phenotypes
  • Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Combined oxidative phosphorylation deficiency 12
Green Green List (high evidence)
EIF2B1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Expert list
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
Green Green List (high evidence)
EIF2B2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
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
Green Green List (high evidence)
EIF2B3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukoencephalopathy with vanishing white matter 603896
  • eIF2B related disorder (Vanishing WM Disease or CACH)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
EIF2B4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Leukoencephaly with vanishing white matter, 603896
  • Ovarioleukodystrophy, 603896
Green Green List (high evidence)
EIF2B5
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Ovarioleukodystrophy, 603896
  • eIF2B related disorder (Vanishing WM Disease or CACH)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
ERCC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cockayne syndrome
  • UV-sensitive syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
ERCC8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cockayne Syndrome
  • UV-sensitive syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
ETFDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glutaric Acidemia IIC
  • Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
FAM126A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hypomyelination and Congenital Cataract
  • Leukodystrophy, hypomyelinating, 5, 610532
Green Green List (high evidence)
FLVCR2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790
Green Green List (high evidence)
FOLR1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency 613068
Green Green List (high evidence)
FUCA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fucosidosis
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
GALC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Krabbe disease 245200
Green Green List (high evidence)
GBE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
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
Phenotypes
  • Combined oxidative phosphorylation deficiency 1
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
GJA1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Eligibility statement prior genetic testing
Phenotypes
  • Oculodentodigital dysplasia (AD) 164200
  • Oculodentodigital dysplasia, autosomal recessive 257850
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
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800
Green Green List (high evidence)
GJC2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 2, 608804
  • Spastic paraplegia 44, autosomal recessive, 613206
  • Lymphedema, hereditary, IC, 613480
Green Green List (high evidence)
HEPACAM
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
Green Green List (high evidence)
HSD17B4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • D-bifunctional protein deficiency
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
IFIH1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
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
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
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
Green Green List (high evidence)
MCOLN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mucolipidosis IV 252650
Green Green List (high evidence)
MEF2C
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations
Green Green List (high evidence)
MLC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
MPLKIP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Trichothiodystrophy, nonphotosensitive
Green Green List (high evidence)
MTFMT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 15
  • 614947
  • 22499348
  • 23499752
Green Green List (high evidence)
NDUFAF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
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
Green Green List (high evidence)
NDUFS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I disorders
  • Mitochondrial complex I deficiency
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Green Green List (high evidence)
NDUFS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex I disorders
  • Leigh syndrome
  • Leigh syndrome associated with mitochondrial complex I deficiency
Green Green List (high evidence)
NDUFS4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex I disorders
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
  • Mitochondrial complex I deficiency
Green Green List (high evidence)
NDUFS7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial respiratory chain complex I deficiency
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Genetic leukoencephalopathies: mitochondrial disorders
  • Leigh syndrome
Green Green List (high evidence)
NDUFS8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex I disorders
  • Leigh syndrome due to mitochondrial complex I deficiency
Green Green List (high evidence)
NDUFV1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
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
Green Green List (high evidence)
NUBPL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
  • Lissencephaly 1
  • Lissencephaly/Subcortical Band Heterotopia
Green Green List (high evidence)
PEX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Peroxisome biogenesis disorder 1A,B
  • Peroxisome biogenesis disorder 1A (Zellweger)
Green Green List (high evidence)
PEX10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
  • ZELLWEGER SYNDROME
Green Green List (high evidence)
PEX12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
Green Green List (high evidence)
PEX13
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • Peroxisome biogenesis disorder 11A (Zellweger)
  • Peroxisome biogenesis disorder 11B
Green Green List (high evidence)
PEX16
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • Peroxisome biogenesis disorder 8A, (Zellweger)
  • Peroxisome biogenesis disorder 8B
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
Green Green List (high evidence)
PEX2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger) 614866
  • Peroxisome biogenesis disorder 5B 614867
Green Green List (high evidence)
PEX26
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
Green Green List (high evidence)
PEX3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger) 614882
Green Green List (high evidence)
PEX5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger) 214110
  • Peroxisome biogenesis disorder 2B 202370
Green Green List (high evidence)
PEX6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger) 614862
  • Peroxisome biogenesis disorder 4B 614863
Green Green List (high evidence)
PLP1
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • UKGTN
  • Other
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Pelizaeus-Merzbacher disease 312080
  • Spastic paraplegia 2, X-linked 312920 Edit
Green Green List (high evidence)
POLG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
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
Green Green List (high evidence)
POLG2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Green Green List (high evidence)
POLR1C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 11 616494
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
Green Green List (high evidence)
POLR3B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381
  • Pol III-Related Leukodystrophy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
PSAP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
  • 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
Green Green List (high evidence)
PYCR2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 10 616420
Green Green List (high evidence)
RARS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 9 616140
Green Green List (high evidence)
RNASEH2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
RNASEH2B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Aicardi-Goutieres syndrome 2
Green Green List (high evidence)
RNASEH2C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres Syndrome 3
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
RNASET2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy, cystic, without megalencephaly 612951
Green Green List (high evidence)
RRM2B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
Green Green List (high evidence)
SAMHD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
SCO1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Mitochondrial complex IV deficiency 220110
Green Green List (high evidence)
SCO2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377
Green Green List (high evidence)
SCP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy 613724
Green Green List (high evidence)
SDHAF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mitochondrial complex II deficiency 252011
Green Green List (high evidence)
SDHB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Succinate dehydrogenase-deficient leukoencephalopathy
  • complex II deficiency
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
Phenotypes
  • Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease
  • Allan-Herndon-Dudley syndrome
  • Monocarboxylate transporter 8 deficiency (MCT8)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
SLC17A5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
SLC25A12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypomyelination, global cerebral 612949
Green Green List (high evidence)
SLC25A4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
SOX10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • 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
Green Green List (high evidence)
SUCLA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 5
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Green Green List (high evidence)
SUMF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Multiple sulfatase deficiency
Green Green List (high evidence)
SURF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex IV disorder
  • Leigh syndrome, due to COX IV deficiency
Green Green List (high evidence)
TACO1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
Green Green List (high evidence)
TREX1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive 225750
  • Vasculopathy, retinal, with cerebral leukodystrophy 192315
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
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
Green Green List (high evidence)
TYMP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Amber Amber List (moderate evidence)
ATPAF2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex V disorders
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Amber Amber List (moderate evidence)
COQ9
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Coenzyme Q10 deficiency, primary, 5
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Amber Amber List (moderate evidence)
MRPS16
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Combined oxidative phosphorylation deficiency 2
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Amber Amber List (moderate evidence)
PEX14
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
Amber Amber List (moderate evidence)
PEX19
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger) 614886
Amber Amber List (moderate evidence)
TUFM
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial Leukoencephalopathy
Red Red List (low evidence)
ADGRG1
1 review
Unknown
Sources
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
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
  • UKGTN
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebral Malformation Disorders
  • Lissencephaly, X-linked 2
  • 300215
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
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
  • Lissencephaly, X-Linked, 1
  • Classic Lissencephaly/Subcortical Band Heterotopia
  • Lissencephaly, X-linked, 300067
  • Subcortical laminal heteropia, X-linked, 300067
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
Red Red List (low evidence)
HSPD1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 13, autosomal dominant, 605280
  • Leukodystrophy, hypomyelinating, 4, 612233
Red Red List (low evidence)
HTRA1
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
Red Red List (low evidence)
ISCA2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Tags
  • founder-effect
Red Red List (low evidence)
JAM3
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
Red Red List (low evidence)
MFF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
Red Red List (low evidence)
MPZ
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital Hypomyelination
  • Neuropathy,congenital hypomyelinating,605253
Red Red List (low evidence)
NDE1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebral Malformation Disorders
  • Lissencephaly, Recessive
  • Lissencephaly 4 (with microcephaly), 614019
Red Red List (low evidence)
NOTCH3
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
Red Red List (low evidence)
PMP22
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy,inflammatory demyelinating,139393
Red Red List (low evidence)
RELN
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
Phenotypes
  • Lissencephaly, Recessive
  • Lissencephaly 2
  • Lissencephaly 2 (Norman-Roberts type), 257320
Red Red List (low evidence)
SDHD
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Mitochondrial complex II deficiency 252011
Red Red List (low evidence)
SLC25A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Global Cerebral Hypomyelination
Red Red List (low evidence)
SNORD118
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • 614561
Tags
  • locus-type-small-nucleolar
Red Red List (low evidence)
TREM2
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
Red Red List (low evidence)
TUBA1A
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cerebral Malformation Disorders
  • Lissencephaly 3
  • Lissencephaly, Dominant
  • Lissencephaly 3, 611603
Red Red List (low evidence)
TUBA8
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
TUBB2B
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders

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