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

10 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

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Philip Dawson (Leadiant Biosciences)

    Group: Other biotech or pharmaceutical
    Workplace: Industry

166 Entities

163 reviewed, 112 green

List Entity Reviews Mode of inheritance Details
166 Entitiess
Green Green List (high evidence)
AARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with ovarian failure
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green 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 list
  • Expert Review Green
  • 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 list
  • Expert Review Green
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 list
  • Expert Review Green
  • 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 list
  • Expert Review Green
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 list
  • Expert Review Green
  • 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 list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
COQ8A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary 4, 612016
  • Spinocerebellar Ataxia Type
Tags
Green Green List (high evidence)
COX10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
  • adult-onset
Green Green List (high evidence)
CYP27A1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Cerebrotendinous xanthomatosis, 213700
Tags
Green 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
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity 615281
Tags
  • new-gene-name
Green Green List (high evidence)
DARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Tags
Green Green List (high evidence)
DGUOK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 3
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green 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 list
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Combined oxidative phosphorylation deficiency 12
Tags
Green Green List (high evidence)
EIF2B1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Childhood Ataxia with Central Nervous System Hypomyelination
  • Leukoencephalopathy with vanishing white matter, 603896
  • eIF2B related disorder (Vanishing WM Disease or CACH)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green 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 list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukoencephalopathy with vanishing white matter 603896
  • eIF2B related disorder (Vanishing WM Disease or CACH)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
EIF2B4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukoencephaly with vanishing white matter, 603896
  • Ovarioleukodystrophy, 603896
Tags
Green Green List (high evidence)
EIF2B5
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Ovarioleukodystrophy, 603896
  • eIF2B related disorder (Vanishing WM Disease or CACH)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
ERCC6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cockayne syndrome
  • UV-sensitive syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
ERCC8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cockayne Syndrome
  • UV-sensitive syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
ETFDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Glutaric Acidemia IIC
  • Mitochondrial Leukoencephalopathy
Tags
Green 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 list
  • Expert Review Green
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 list
  • Expert Review Green
  • 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 list
  • 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 list
  • 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 list
  • Expert Review Green
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 list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukodystrophy, hypomyelinating, 2, 608804
  • Spastic paraplegia 44, autosomal recessive, 613206
  • Lymphedema, hereditary, IC, 613480
Tags
Green Green List (high evidence)
HEPACAM
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • 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
Tags
Green Green List (high evidence)
HSD17B4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • D-bifunctional protein deficiency
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
IBA57
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 3, 615330
Tags
Green Green List (high evidence)
IFIH1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres Syndrome
  • Aicardi-Goutieres syndrome 7
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
  • missense
Green Green List (high evidence)
ISCA2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 4, 616370
Tags
  • founder-effect
Green Green List (high evidence)
L2HGDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • L-2-hydroxyglutaric aciduria, 236792
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 list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial respiratory chain complex I deficiency
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Genetic leukoencephalopathies: mitochondrial disorders
  • Leigh syndrome
Tags
Green Green List (high evidence)
NDUFS8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex I disorders
  • Leigh syndrome due to mitochondrial complex I deficiency
Tags
Green Green List (high evidence)
NDUFV1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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 list
  • 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
  • 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 list
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Peroxisome biogenesis disorder 1A,B
  • Peroxisome biogenesis disorder 1A (Zellweger)
Tags
Green Green List (high evidence)
PEX10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
  • ZELLWEGER SYNDROME
Tags
Green Green List (high evidence)
PEX12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • Peroxisome biogenesis disorder 3A,B
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Peroxisome biogenesis disorder 3A (Zellweger)
  • Peroxisome biogenesis disorder 3B
Tags
Green Green List (high evidence)
PEX13
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • Peroxisome biogenesis disorder 11A (Zellweger)
  • Peroxisome biogenesis disorder 11B
Tags
Green Green List (high evidence)
PEX16
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • Peroxisome biogenesis disorder 8A, (Zellweger)
  • Peroxisome biogenesis disorder 8B
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
Tags
Green Green List (high evidence)
PEX2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger) 614866
  • Peroxisome biogenesis disorder 5B 614867
Tags
Green Green List (high evidence)
PEX26
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
Tags
Green Green List (high evidence)
PEX3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger) 614882
Tags
Green Green List (high evidence)
PEX5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger) 214110
  • Peroxisome biogenesis disorder 2B 202370
Tags
Green Green List (high evidence)
PEX6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 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 list
  • Expert Review Green
  • 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 list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
Tags
Green Green List (high evidence)
POLG2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Tags
Green Green List (high evidence)
POLR1C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukodystrophy, hypomyelinating, 11 616494
Tags
Green Green List (high evidence)
POLR3A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 607694
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
POLR3B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 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 list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Combined SAP deficiency 611721
  • Gaucher disease, atypical 610539
  • Krabbe disease, atypical 611722
  • Metachromatic leukodystrophy due to SAP-b deficiency 249900
Tags
Green 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
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 9 616140
Tags
  • new-gene-name
Green Green List (high evidence)
RNASEH2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
RNASEH2B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
  • 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 list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
Tags
Green Green List (high evidence)
SAMHD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
SCO1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex IV deficiency 220110
Tags
Green Green List (high evidence)
SCO2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377
Tags
Green Green List (high evidence)
SCP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy 613724
Tags
Green Green List (high evidence)
SDHAF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex II deficiency 252011
Tags
Green Green List (high evidence)
SDHB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
SLC25A12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypomyelination, global cerebral 612949
Tags
Green Green List (high evidence)
SLC25A4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
SNORD118
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 614561
  • Leukoencephalopathy, brain calcifications and cysts, 614561
Tags
  • locus-type-small-nucleolar
Green Green List (high evidence)
SOX10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy
  • PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
Tags
Green Green List (high evidence)
SUCLA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
TREX1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive 225750
  • Vasculopathy, retinal, with cerebral leukodystrophy 192315
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green 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)
TWNK
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 7
Tags
Green Green List (high evidence)
TYMP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Tags
Amber Amber List (moderate evidence)
ATPAF2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex V disorders
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Amber Amber List (moderate evidence)
COQ9
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Coenzyme Q10 deficiency, primary, 5
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Amber Amber List (moderate evidence)
MRPS16
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Combined oxidative phosphorylation deficiency 2
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Amber Amber List (moderate evidence)
PEX14
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
Tags
Amber Amber List (moderate evidence)
PEX19
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger) 614886
Tags
Amber Amber List (moderate evidence)
TUFM
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Red Red List (low evidence)
ACBD5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
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)
ATP7A
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Menkes disease, MIM#309400
Tags
Red Red List (low evidence)
BOLA3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Tags
Red Red List (low evidence)
CNTNAP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Tags
Red Red List (low evidence)
COL4A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Tags
Red Red List (low evidence)
CYP7B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
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)
ERCC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Tags
Red Red List (low evidence)
FA2H
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
HEXA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
HMBS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
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)
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)
NAXE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186
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)
NDUFA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Mitochondrial leukoencephalopathy
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)
OCRL
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Lowe syndrome, MIM#309000
Tags
Red Red List (low evidence)
PHGDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Phosphoglycerate dehydrogenase deficiency, MIM#601815
Tags
Red 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)
POLR1A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
PPT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1, MIM#256730
Tags
Red Red List (low evidence)
PRF1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
RAB11B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM#617807
Tags
Red Red List (low evidence)
RELN
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)
SDHA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Mitochondrial respiratory chain complex II deficiency, MIM#252011
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)
SLC13A5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905
Tags
Red 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)
SON
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
Phenotypes
  • ZTTK SYNDROME
Tags
Red Red List (low evidence)
SPART
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Troyer syndrome, MIM#275900
Tags
Red Red List (low evidence)
SPG11
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Spastic paralplegia 11, autosomal recessive, MIM#604360
Tags
Red Red List (low evidence)
SPG7
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 7, autosomal recessive, MIM#607259
Tags
Red Red List (low evidence)
TMEM106B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Leukodystrophy, hypomyelinating 16, MIM#617964
Tags
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
Red Red List (low evidence)
TYROBP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Nasu-Hakola disease, MIM#221770
Tags
Red Red List (low evidence)
UNC13D
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
VPS11
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, MIM#616683
Tags
Red Red List (low evidence)
ZFYVE26
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 15, autosomal recessive, MIM#270700
Tags

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