PanelApp
  1. Panels
  2. White matter disorders and cerebral calcification - narrow panel
Description
This panel is a component of super panel 'White matter disorders - childhood onset'; it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

The content of this panel (version 1.12: https://panelapp.genomicsengland.co.uk/api/v1/panels/476/?version=1.12 ) was signed off under NHS Genomic Medicine Service governance on (02/03/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally created from the following gene panels: 
- Inherited white matter disorders (v1.55 code 42) 
- Intracerebral calcification disorders (v1.11 code 315)
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (v1.7 code 77)
Panel Activity

4 reviewers

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

220 Entities

58 reviewed, 133 green

List Entity Reviews Mode of inheritance Details
220 Entitiess
Green Green List (high evidence)
AARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with ovarian failure
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
ABCD1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Adrenomyeloneuropathy, adult, 300100
  • Adrenoleukodystrophy, X-linked
  • Adrenoleukodystrophy
  • Adrenoleukodystrophy, 300100
  • X-Linked Adrenoleukodystrophy
Tags
Green Green List (high evidence)
ACOX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency 264470
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
ACP5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia
  • Spondyloenchondrodysplasia with immune dysregulation
Tags
Green Green List (high evidence)
ADAR
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Aicardi-Goutieres syndrome
  • Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis
  • Aicardi-Goutieres syndrome 6
Tags
Green Green List (high evidence)
AIMP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 3
Tags
Green Green List (high evidence)
ALDH3A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sjogren Larsson syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
AP1S2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Calcifications in basal ganglia
  • Mental retardation, X-linked syndromic 5, 304340
Tags
Green Green List (high evidence)
ARSA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Metachromatic leukodystrophy, 250100
  • Arylsulfatase A Deficiency
Tags
Green Green List (high evidence)
ASPA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy, 25655951
Tags
Green Green List (high evidence)
BCAP31
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Deafness, dystonia and cerebellar hypomyelination, 300475
Tags
Green Green List (high evidence)
BCS1L
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex III disorders
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
CIC
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 45 617600
Tags
Green Green List (high evidence)
CLCN2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with ataxia
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Chloride Ion Channel 2(ClC-2) related leukoencephalopathy with intramyelinic oedema
Tags
Green Green List (high evidence)
COL4A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification
  • Porencephaly 1
Tags
Green Green List (high evidence)
COQ2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial Leukoencephalopathy
  • Coenzyme Q10 deficiency, primary, 1
Tags
Green Green List (high evidence)
COQ8A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary 4, 612016
  • Spinocerebellar Ataxia Type
Tags
Green Green List (high evidence)
COX10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex IV disorder
Tags
Green Green List (high evidence)
COX15
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV disorders
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
CSF1R
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
CTC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coats Plus syndrome
  • Cerebroretinal microangiopathy with calcifications and cysts, 612199
Tags
Green Green List (high evidence)
CYP27A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Cerebrotendinous xanthomatosis, 213700
Tags
Green Green List (high evidence)
CYP2U1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 56, autosomal recessive
Tags
Green Green List (high evidence)
D2HGDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • L2-Hydroxyglutaric aciduria
Tags
Green Green List (high evidence)
DARS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Tags
  • new-gene-name
Green Green List (high evidence)
DARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL)
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Tags
Green Green List (high evidence)
DDB2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group E, DDB-negative subtype, 278740
Tags
Green Green List (high evidence)
DGUOK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 3
Tags
Green Green List (high evidence)
DPYD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dihydropyrimidine dehydrogenase deficiency
  • 5-fluorouracil toxicity 274270
Tags
Green Green List (high evidence)
EARS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
  • Combined oxidative phosphorylation deficiency 12
Tags
Green Green List (high evidence)
EIF2B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Childhood Ataxia with Central Nervous System Hypomyelination
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • eIF2B related disorder (Vanishing WM Disease or CACH)
Tags
Green Green List (high evidence)
EIF2B2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Childhood Ataxia with Central Nervous System Hypomyelination
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • eIF2B related disorder (Vanishing WM Disease or CACH)
  • Ovarioleukodystrophy, 603896
Tags
Green Green List (high evidence)
EIF2B3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Leukoencephalopathy with vanishing white matter 603896
  • eIF2B related disorder (Vanishing WM Disease or CACH)
Tags
Green Green List (high evidence)
EIF2B4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ovarioleukodystrophy, 603896
  • Leukoencephaly with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Ovarioleukodystrophy, 603896
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • eIF2B related disorder (Vanishing WM Disease or CACH)
Tags
Green Green List (high evidence)
ERCC1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Xeroderma Pigmentosum
Tags
Green Green List (high evidence)
ERCC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group D, 278730
  • Trichothiodystrophy, 601675
Tags
Green Green List (high evidence)
ERCC3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group B, 610651
  • Trichothiodystrophy, 601675
Tags
Green Green List (high evidence)
ERCC4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
  • Xeroderma pigmentosum, group F, 278760
Tags
Green Green List (high evidence)
ERCC5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group G, 278780
  • Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
Tags
Green Green List (high evidence)
ERCC6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • De Sanctis-Cacchione syndrome
  • PMID: 26204423
  • Cockayne syndrome
  • UV-sensitive syndrome
  • Cockayne syndrome phenotype and UV-sensitive syndrome
  • Cockayne syndrome B
  • UV-sensitive syndrome 1
  • Intercranial Calcifications
  • Cockayne syndrome, type B
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
ERCC8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PMID: 26204423
  • UV-sensitive syndrome
  • Cockayne syndrome phenotype and UV-sensitive syndrome
  • Cockayne syndrome, type A
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Cockayne Syndrome
Tags
Green Green List (high evidence)
ETFDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glutaric Acidemia IIC
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
FAM126A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypomyelination and Congenital Cataract
  • Leukodystrophy, hypomyelinating, 5, 610532
Tags
Green Green List (high evidence)
FLVCR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790
Tags
Green Green List (high evidence)
FOLR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
Tags
Green Green List (high evidence)
FUCA1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fucosidosis
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
GALC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Krabbe disease
Tags
Green Green List (high evidence)
GBE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Polyglucosan body disease, adult form
  • Polyglucosan Body Disease (PGBD)
Tags
Green Green List (high evidence)
GFAP
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
GFM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Combined oxidative phosphorylation deficiency 1
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
GJA1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Oculodentodigital dysplasia, autosomal recessive 257850
  • Oculodentodigital dysplasia (AD) 164200
Tags
Green Green List (high evidence)
GJB1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1
Tags
Green Green List (high evidence)
GJC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 44, autosomal recessive, 613206
  • Leukodystrophy, hypomyelinating, 2, 608804
  • Lymphedema, hereditary, IC, 613480
Tags
Green Green List (high evidence)
GTF2H5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Photosensitive trichothiodystrophy 3
  • Trichothiodystrophy 3, photosensitive
Tags
Green Green List (high evidence)
HEPACAM
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
Tags
Green Green List (high evidence)
HSD17B4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • D-bifunctional protein deficiency
Tags
Green Green List (high evidence)
IBA57
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 3, 615330
Tags
Green Green List (high evidence)
IFIH1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Aicardi-Goutieres syndrome 7, 615846
  • Aicardi-Goutieres syndrome 7
  • Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis
Tags
Green Green List (high evidence)
JAM3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
Tags
Green Green List (high evidence)
L2HGDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • L-2-hydroxyglutaric aciduria, 236792
Tags
Green Green List (high evidence)
LAMB1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lissencephaly 5, 615191
Tags
Green Green List (high evidence)
LMNB1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy,adult-onset, autosomal dominant,169500
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Adult onset autosomal dominant leukodystrophy (ADLD)
Tags
Green Green List (high evidence)
LYRM7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 8
  • leukoencephalopathy and complex III deficiency
  • 615838
  • severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
Tags
Green Green List (high evidence)
MCOLN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mucolipidosis IV
Tags
Green Green List (high evidence)
MEF2C
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations
Tags
Green Green List (high evidence)
MLC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
MPLKIP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Non-photosensitive trichothiodystrophy 4
  • Trichothiodystrophy, nonphotosensitive
Tags
Green Green List (high evidence)
MTFMT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 15
  • 22499348
  • 614947
  • 23499752
Tags
Green Green List (high evidence)
NDUFAF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
NDUFAF3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency
Tags
Green Green List (high evidence)
NDUFS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency
  • Mitochondrial complex I disorders
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial Leukoencephalopathy
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Tags
Green Green List (high evidence)
NDUFS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I disorders
  • Leigh syndrome associated with mitochondrial complex I deficiency
  • Mitochondrial Leukoencephalopathy
  • Leigh syndrome
Tags
Green Green List (high evidence)
NDUFS4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency
  • Mitochondrial complex I disorders
  • Mitochondrial Leukoencephalopathy
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Tags
Green Green List (high evidence)
NDUFS7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Genetic leukoencephalopathies: mitochondrial disorders
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Leigh syndrome
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial respiratory chain complex I deficiency
Tags
Green Green List (high evidence)
NDUFS8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I disorders
  • Leigh syndrome due to mitochondrial complex I deficiency
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
NDUFV1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
NKX6-2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Tags
Green Green List (high evidence)
NUBPL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
OCLN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Severe developmental delay with microcephaly
  • Band-like calcification with simplified gyration and polymicrogyria
  • Band-like calcification with simplified gyration and polymicrogyria, 251290
Tags
Green Green List (high evidence)
PAFAH1B1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Lissencephaly 1
  • Cerebral Malformation Disorders
  • Lissencephaly/Subcortical Band Heterotopia
Tags
Green Green List (high evidence)
PDGFB
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Fahr syndrome
  • Basal ganglia calcification, idiopathic, 5, 615483
Tags
Green Green List (high evidence)
PDGFRB
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Fahr syndrome
  • Calcifications in basal ganglia
  • Basal ganglia calcification idiopathic 4, 615007
Tags
Green Green List (high evidence)
PEX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • Peroxisome biogenesis disorder 1A,B
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Peroxisome biogenesis disorder 1A (Zellweger)
Tags
Green Green List (high evidence)
PEX10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • ZELLWEGER SYNDROME
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
Tags
Green Green List (high evidence)
PEX12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • Peroxisome biogenesis disorder 3A (Zellweger)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Peroxisome biogenesis disorder 3B
  • Peroxisome biogenesis disorder 3A,B
Tags
Green Green List (high evidence)
PEX13
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • Peroxisome biogenesis disorder 11A (Zellweger)
  • Peroxisome biogenesis disorder 11B
Tags
Green Green List (high evidence)
PEX16
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • Peroxisome biogenesis disorder 8A, (Zellweger)
  • Peroxisome biogenesis disorder 8B
  • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
Tags
Green Green List (high evidence)
PEX2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger)
Tags
Green Green List (high evidence)
PEX26
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
Tags
Green Green List (high evidence)
PEX3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger) 614882
Tags
Green Green List (high evidence)
PEX5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger)
Tags
Green Green List (high evidence)
PEX6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 4B 614863
  • Peroxisome biogenesis disorder 4A (Zellweger) 614862
Tags
Green Green List (high evidence)
PLP1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 2, X-linked 312920 Edit
  • Pelizaeus-Merzbacher disease 312080
Tags
Green Green List (high evidence)
POLG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
Tags
Green Green List (high evidence)
POLG2
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Tags
Green Green List (high evidence)
POLH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, variant type, 278750
Tags
Green Green List (high evidence)
POLR1C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 11
Tags
Green Green List (high evidence)
POLR3A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
Tags
Green Green List (high evidence)
POLR3B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381
  • Pol III-Related Leukodystrophy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
PSAP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined SAP deficiency
Tags
Green Green List (high evidence)
PYCR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 10 616420
Tags
Green Green List (high evidence)
RARS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 9 616140
Tags
  • new-gene-name
Green Green List (high evidence)
RNASEH2A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 4
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
RNASEH2B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Aicardi-Goutieres syndrome 2
Tags
Green Green List (high evidence)
RNASEH2C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres Syndrome 3
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Aicardi-Goutieres syndrome 3
Tags
Green Green List (high evidence)
RNASET2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy, cystic, without megalencephaly
Tags
Green Green List (high evidence)
RRM2B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
Tags
Green Green List (high evidence)
SAMHD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres Syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Aicardi-Goutieres syndrome
Tags
Green Green List (high evidence)
SCO1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Tags
Green Green List (high evidence)
SCO2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Tags
Green Green List (high evidence)
SCP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy
Tags
Green Green List (high evidence)
SDHAF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex II deficiency 252011
Tags
Green Green List (high evidence)
SDHB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Succinate dehydrogenase-deficient leukoencephalopathy
  • complex II deficiency
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
SLC16A2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease
  • Monocarboxylate transporter 8 deficiency (MCT8)
  • Allan-Herndon-Dudley syndrome
Tags
Green Green List (high evidence)
SLC17A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
SLC20A2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Fahr syndrome
  • Basal ganglia calcification, idiopathic, 1, 213600
  • Familial Idiopathic Basal Ganglia Calcification
Tags
Green Green List (high evidence)
SLC25A12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypomyelination, global cerebral
Tags
Green Green List (high evidence)
SLC25A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
SOX10
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
  • peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy
Tags
Green Green List (high evidence)
SUCLA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 5
Tags
Green Green List (high evidence)
SUMF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Multiple sulfatase deficiency
Tags
Green Green List (high evidence)
SURF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leigh syndrome, due to COX IV deficiency
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex IV disorder
Tags
Green Green List (high evidence)
TACO1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
TREM2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
  • Calcifications in basal ganglia
  • Nasu-Hakola disease
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)
Tags
Green Green List (high evidence)
TREX1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive 225750
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Aicardi-Gouti res syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy
  • Aicardi-Goutieres syndrome 1, dominant and recessive
  • Vasculopathy, retinal, with cerebral leukodystrophy 192315
Tags
Green Green List (high evidence)
TUBB4A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, 612438
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Leukodystrophy, hypomyelinating 6
  • Dystonia 4, torsion, autosomal dominant, 128101
Tags
Green Green List (high evidence)
TWNK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 7
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
TYMP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Tags
Green Green List (high evidence)
USP18
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pseudo-TORCH syndrome 2, 617397
Tags
  • treatable
Green Green List (high evidence)
XPA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group A, 278700
Tags
Green Green List (high evidence)
XPC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group C, 278720
Tags
Green Green List (high evidence)
XPR1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Basal ganglia calcification, idiopathic, 6, 616413
  • Basal ganglia calcification (Fahr syndrome)
Tags
Amber Amber List (moderate evidence)
AP4B1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Spastic paraplegia 47, autosomal recessive, OMIM:614066
  • Hereditary spastic paraplegia 47, MONDO:0013551
Tags
  • for-review
Amber Amber List (moderate evidence)
ATPAF2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex V disorders
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial Leukoencephalopathy
Tags
Amber Amber List (moderate evidence)
COQ9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial Leukoencephalopathy
Tags
Amber Amber List (moderate evidence)
GTF2E2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive
  • 616943
Tags
Amber Amber List (moderate evidence)
MRE11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Nijmegen breakage syndrome-like severe microcephaly
Tags
Amber Amber List (moderate evidence)
MRPS16
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Combined oxidative phosphorylation deficiency 2
  • Mitochondrial Leukoencephalopathy
Tags
Amber Amber List (moderate evidence)
NUP188
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Sandestig-Stefanova syndrome, 618804
Tags
  • for-review
Amber Amber List (moderate evidence)
PEX14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
Tags
Amber Amber List (moderate evidence)
PEX19
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger)
Tags
Amber Amber List (moderate evidence)
SCAF4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • SCAF4-related Neurodevelopmental Disorder
  • Intellectual disability
  • Seizures
  • Behavioural abnormalities
Tags
  • for-review
Amber Amber List (moderate evidence)
STN1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341
Tags
  • for-review
Amber Amber List (moderate evidence)
TMEM106B
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Leukodystrophy, hypomyelinating, 16, OMIM:617964
  • Leukodystrophy, hypomyelinating, 16, MONDO:0054791
Tags
  • for-review
  • missense
Amber Amber List (moderate evidence)
TUFM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Red Red List (low evidence)
ACBD5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ADGRG1
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
ARX
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Phenotypes
  • 300215
  • Cerebral Malformation Disorders
  • Lissencephaly, X-linked 2
Tags
Red Red List (low evidence)
ATP7A
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Menkes disease, MIM#309400
Tags
Red Red List (low evidence)
BOLA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
CNTNAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
CYP7B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
DCX
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Phenotypes
  • Lissencephaly, X-Linked, 1
  • Subcortical laminal heteropia, X-linked, 300067
  • Cerebral Malformation Disorders
  • Lissencephaly, X-linked, 300067
  • Classic Lissencephaly/Subcortical Band Heterotopia
Tags
Red Red List (low evidence)
DDB1
0 reviews
 Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
EGR2
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • Neuropathy, congenital hypomyelinating, 1, 605253
  • Charcot-Marie-Tooth disease,type 1D,607678
  • Dejerine-Sottas disease,145900
Tags
Red Red List (low evidence)
FA2H
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
HEXA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
HMBS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
HSPD1
1 review
1 green 		Unknown
Sources
  • Expert Review Red
Phenotypes
  • Leukodystrophy, hypomyelinating, 4, 612233
  • Spastic paraplegia 13, autosomal dominant, 605280
Tags
Red Red List (low evidence)
HTRA1
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
Tags
Red Red List (low evidence)
ISCA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
MAT1A
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • Calcifications in basal ganglia
  • Methionine adenosyltransferase deficiency, autosomal recessive
Tags
Red Red List (low evidence)
MFF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
Tags
Red Red List (low evidence)
MPZ
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Neuropathy,congenital hypomyelinating,605253
  • Congenital Hypomyelination
Tags
Red Red List (low evidence)
NAXE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186
Tags
Red Red List (low evidence)
NDE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Lissencephaly 4 (with microcephaly), 614019
  • Lissencephaly, Recessive
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
NDUFA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial leukoencephalopathy
Tags
Red Red List (low evidence)
NOTCH3
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
Tags
Red Red List (low evidence)
OCRL
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Lowe syndrome, MIM#309000
Tags
Red Red List (low evidence)
PCDH12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • microcephaly
  • intellectual disability
  • perithalamic hyperechogenicity
  • hypothalamic abnormalities
  • periventricular hyperechogenicity
  • epilepsy
  • midbrain abnormalities
Tags
Red Red List (low evidence)
PHGDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Phosphoglycerate dehydrogenase deficiency, MIM#601815
Tags
Red Red List (low evidence)
PMP22
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • Neuropathy,inflammatory demyelinating,139393
Tags
Red Red List (low evidence)
POLR1A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
PPT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1, MIM#256730
Tags
Red Red List (low evidence)
PRF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
RAB11B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM#617807
Tags
Red Red List (low evidence)
RELN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Lissencephaly, Recessive
  • Lissencephaly 2
  • Lissencephaly 2 (Norman-Roberts type), 257320
Tags
Red Red List (low evidence)
RNF113A
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Phenotypes
  • ?Trichothiodystrophy 5, nonphotosensitive
Tags
  • Skewed X-inactivation
Red Red List (low evidence)
SCN2A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy, early infantile, 11
  • Seizures, benign familial infantile, 3
Tags
Red Red List (low evidence)
SDHA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial respiratory chain complex II deficiency, MIM#252011
Tags
Red Red List (low evidence)
SDHD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial complex II deficiency
Tags
Red Red List (low evidence)
SLC13A5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905
Tags
Red Red List (low evidence)
SLC25A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Global Cerebral Hypomyelination
Tags
Red Red List (low evidence)
SNORD118
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • 614561
Tags
Red Red List (low evidence)
SPART
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Troyer syndrome, MIM#275900
Tags
Red Red List (low evidence)
SPG11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spastic paralplegia 11, autosomal recessive, MIM#604360
Tags
Red Red List (low evidence)
SPG7
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 7, autosomal recessive, MIM#607259
Tags
Red Red List (low evidence)
TUBA1A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Lissencephaly 3
  • Lissencephaly, Dominant
  • Cerebral Malformation Disorders
  • Lissencephaly 3, 611603
Tags
Red Red List (low evidence)
TUBA8
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TUBB2B
0 reviews
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TYROBP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Nasu-Hakola disease, MIM#221770
Tags
Red Red List (low evidence)
UNC13D
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
VPS11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, MIM#616683
Tags
Red Red List (low evidence)
ZFYVE26
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 15, autosomal recessive, MIM#270700
Tags
No list No list
AARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 29, OMIM:616339
  • Developmental and epileptic encephalopathy, 29, MONDO:0014593
Tags
No list No list
ACER3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Leukodystrophy
Tags
No list No list
AIFM1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
Phenotypes
  • Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232
Tags
No list No list
APOPT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Mitochondrial complex IV deficiency, MIM# 220110
Tags
No list No list
CLPP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Perrault syndrome 3, MIM# 614129
Tags
No list No list
CNP
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Hypomyelinating leukodystrophy
Tags
No list No list
COA7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387
Tags
No list No list
DCAF17
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Woodhouse-Sakati syndrome, MIM# 241080
Tags
No list No list
DEGS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 18, MIM#618404
Tags
No list No list
EPRS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 15, MIM# 617951
Tags
No list No list
FARSA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Rajab interstitial lung disease with brain calcifications 2, MIM# 619013
Tags
No list No list
FIG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Charcot-Marie-Tooth disease, type 4J 611228
  • Yunis-Varon syndrome 216340
  • leukoencephalopathy
Tags
No list No list
GLB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • GM1-gangliosidosis, type I, MIM# 230500
  • GM1-gangliosidosis, type II, MIM# 230600
Tags
No list No list
GLRX5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spasticity, childhood-onset, with hyperglycinemia, MIM# 616859
Tags
No list No list
HIKESHI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 13, MIM# 616881
Tags
No list No list
ISCA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Tags
No list No list
KIAA1161
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
Tags
No list No list
KIF5A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Myoclonus, intractable, neonatal, MIM# 617235
Tags
No list No list
NAXD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Tags
No list No list
NFU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711
Tags
No list No list
PTEN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Cowden syndrome 1, MIM# 158350
Tags
No list No list
RPIA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Ribose 5-phosphate isomerase deficiency, MIM# 608611
Tags
No list No list
TMEM63A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 19, transient infantile, MIM# 618688
Tags
No list No list
UFM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 14, MIM# 617899
Tags
No list No list
WARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710
Tags

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