PanelApp
  1. Panels
  2. Leukodystrophy_Superpanel
Description
This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset.

It incorporates the panel developed by the Australian Genomics Health Alliance Leukodystrophy flagship (as of 17 Nov 2019).

320 Entities

266 reviewed, 254 green

List Entity Reviews Mode of inheritance Details
320 Entitiess
Green Green List (high evidence)
AARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epileptic encephalopathy, early infantile, 29, MIM#616339
Tags
Green Green List (high evidence)
AARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy, progressive, with ovarian failure, 615889
Tags
Green Green List (high evidence)
ABCD1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Adrenoleukodystrophy, MIM# 300100
Tags
Green Green List (high evidence)
ABCD1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100
Tags
Green Green List (high evidence)
ABHD16A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 86, autosomal recessive, MIM# 619735
  • Intellectual Disability
  • Corpus callosum abnormalities
Tags
Green Green List (high evidence)
ACBD5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Progressive leukodystrophy
  • syndromic cleft palate
  • ataxia
  • retinal dystrophy
Tags
Green Green List (high evidence)
ACER3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukodystrophy, progressive, early childhood-onset, OMIM:617762
Tags
Green Green List (high evidence)
ACOX1
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470
  • Mitchell syndrome, MIM# 618960
Tags
Green Green List (high evidence)
ACTA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • multisystemic smooth muscle dysfunction syndrome MONDO:0013452
Tags
Green Green List (high evidence)
ACTA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • multisystemic smooth muscle dysfunction syndrome MONDO:0013452
Tags
Green Green List (high evidence)
ADAR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 6, 615010
Tags
Green Green List (high evidence)
ADAR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres syndrome 6, MIM# 615010
Tags
Green Green List (high evidence)
AIFM1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232
Tags
Green Green List (high evidence)
AIMP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 3 260600
Tags
Green Green List (high evidence)
ALDH3A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Sjogren-Larsson syndrome, MIM# 270200
Tags
Green Green List (high evidence)
ALDH3A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Sjogren-Larsson syndrome, 270200
Tags
Green Green List (high evidence)
AP4B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 47, autosomal recessive MIM#614066
Tags
Green Green List (high evidence)
APOPT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial complex IV deficiency, MIM# 220110
Tags
Green Green List (high evidence)
APP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • early-onset autosomal dominant Alzheimer disease MONDO:0015140
Tags
Green Green List (high evidence)
ARSA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Metachromatic leukodystrophy, 250100
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
ARSA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Metachromatic leukodystrophy, MIM# 250100
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
ASPA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Canavan disease, MIM# 271900
Tags
Green Green List (high evidence)
ASPA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Canavan disease, MIM# 271900
Tags
Green Green List (high evidence)
ATP11A
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 24 , MIM# 619851
Tags
Green Green List (high evidence)
ATP7A
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Menkes disease, 309400
Tags
  • treatable
Green Green List (high evidence)
AUH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 3-methylglutaconic aciduria, type I, MIM# 250950
Tags
Green Green List (high evidence)
AUH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • 3-methylglutaconic aciduria, type I, MIM#250950
Tags
Green Green List (high evidence)
BCAP31
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, dystonia, and cerebral hypomyelination, 300475
Tags
Green Green List (high evidence)
BCS1L
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial complex III disorders
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
BLOC1S1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), BLOC1S1-related
Tags
Green Green List (high evidence)
BOLA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299
Tags
Green Green List (high evidence)
BORCS8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987
Tags
Green Green List (high evidence)
C1R
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080)
  • Leukodystrophy - adult onset
Tags
Green Green List (high evidence)
C2orf69
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Tags
Green Green List (high evidence)
C9orf72_FTDALS_GGGGCC
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105
Tags
Green Green List (high evidence)
CIC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Mental retardation, autosomal dominant 45 617600
Tags
Green Green List (high evidence)
CLCN2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukoencephalopathy with ataxia, 615651
Tags
Green Green List (high evidence)
CLCN2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy with ataxia, MIM# 615651
Tags
Green Green List (high evidence)
CLDN11
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypomyelinating leukodystrophy-22, MIM#619328
Tags
Green Green List (high evidence)
CLPP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Perrault syndrome 3, MIM#614129
Tags
Green Green List (high evidence)
CNTNAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypomyelinating neuropathy, congenital, 3, MIM# 618186
  • Lethal congenital contracture syndrome 7, MIM# 616286
Tags
Green Green List (high evidence)
COA7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387
Tags
Green Green List (high evidence)
COL4A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773
  • Brain small vessel disease with or without ocular anomalies, 175780
Tags
Green Green List (high evidence)
COLGALT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Brain small vessel disease 3 MIM#618360
Tags
Green Green List (high evidence)
COQ2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Coenzyme Q10 deficiency, primary, 1
Tags
Green Green List (high evidence)
COX10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial complex IV disorder
Tags
Green Green List (high evidence)
COX15
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex IV disorders
Tags
Green Green List (high evidence)
CSF1R
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy, diffuse hereditary, with spheroids, 221820
Tags
Green Green List (high evidence)
CSMD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
Tags
Green Green List (high evidence)
CST3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy, MIM#621214
Tags
Green Green List (high evidence)
CTC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Tags
Green Green List (high evidence)
CTSA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cathepsin-A-related arteriopathy with strokes and leukoencephalopathy
Tags
Green Green List (high evidence)
CYP27A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Cerebrotendinous xanthomatosis, 213700
Tags
Green Green List (high evidence)
CYP7B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 5A, autosomal recessive, MIM# 270800
Tags
Green Green List (high evidence)
CYP7B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 5A, autosomal recessive 270800
Tags
Green Green List (high evidence)
D2HGDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • L2-Hydroxyglutaric aciduria
Tags
Green Green List (high evidence)
DARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Tags
  • new gene name
Green Green List (high evidence)
DARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Tags
  • new gene name
Green Green List (high evidence)
DARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Tags
Green Green List (high evidence)
DARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105
Tags
Green Green List (high evidence)
DCAF17
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Woodhouse-Sakati syndrome, MIM# 241080
Tags
Green Green List (high evidence)
DCAF17
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Woodhouse-Sakati syndrome, MIM#241080
Tags
Green Green List (high evidence)
DEGS1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 18 618404
Tags
Green Green List (high evidence)
DENND5B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related
Tags
Green Green List (high evidence)
DGUOK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • 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
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Dihydropyrimidine dehydrogenase deficiency 274270
  • 5-fluorouracil toxicity 274270
Tags
Green Green List (high evidence)
EARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 12, MIM# 614924
  • Leukoencephalopathy with thalamus and brainstem involvement and high lactate
Tags
Green Green List (high evidence)
EIF2AK2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Intellectual disability
  • white matter abnormalities
  • ataxia
  • regression with febrile illness
Tags
Green Green List (high evidence)
EIF2B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy with vanishing white matter, MIM# 603896
Tags
Green Green List (high evidence)
EIF2B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukoencephalopathy with vanishing white matter MONDO:0011380
Tags
Green Green List (high evidence)
EIF2B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy with vanishing white matter, MIM# 603896
Tags
Green Green List (high evidence)
EIF2B3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy with vanishing white matter, MIM# 603896
Tags
Green Green List (high evidence)
EIF2B3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukoencephalopathy with vanishing white matter, MIM#603896, MONDO:0011380
Tags
Green Green List (high evidence)
EIF2B4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukoencephalopathy with vanishing white matter, MIM#603896, MONDO:0011380
Tags
Green Green List (high evidence)
EIF2B4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy with vanishing white matter, MIM# 603896
Tags
Green Green List (high evidence)
EIF2B5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy with vanishing white matter, MIM# 603896
Tags
Green Green List (high evidence)
ELOVL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527
Tags
Green Green List (high evidence)
ENTPD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 64, autosomal recessive, MIM# 615683
Tags
Green Green List (high evidence)
EPRS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Leukodystrophy, hypomyelinating, 15, MIM#617951
Tags
Green Green List (high evidence)
EPRS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 15, MIM# 617951
Tags
Green Green List (high evidence)
ERCC6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Cockayne syndrome
  • UV-sensitive syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
ERCC8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Cockayne Syndrome
  • UV-sensitive syndrome
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
ETFDH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Glutaric Acidemia IIC
Tags
  • treatable
Green Green List (high evidence)
FA2H
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 35, autosomal recessive, MIM#612319
Tags
Green Green List (high evidence)
FAM126A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Hypomyelination and Congenital Cataract
  • Leukodystrophy, hypomyelinating, 5, 610532
Tags
Green Green List (high evidence)
FIG4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, type 4J 611228
  • Yunis-Varon syndrome 216340
  • leukoencephalopathy
Tags
Green Green List (high evidence)
FOLR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • 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
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Fucosidosis
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
GALC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Krabbe disease, MIM# 245200
Tags
Green Green List (high evidence)
GALC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Krabbe disease, 245200
Tags
Green Green List (high evidence)
GBE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Polyglucosan body disease, adult form, 263570
Tags
Green Green List (high evidence)
GFAP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Alexander disease, MIM# 203450
Tags
Green Green List (high evidence)
GFAP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Alexander disease, 203450
Tags
Green Green List (high evidence)
GFM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 1
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
GJA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hereditary spastic paraplegia
  • Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
Tags
Green Green List (high evidence)
GJB1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800
  • Reversible posterior leukoencephalopathy
Tags
Green Green List (high evidence)
GJC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukodystrophy, hypomyelinating, 2, 608804,
Tags
Green Green List (high evidence)
GJC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 2, MIM# 608804
Tags
Green Green List (high evidence)
GLA
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Fabry disease, Fabry disease, cardiac variant, 301500
Tags
Green Green List (high evidence)
GLB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • GM1-gangliosidosis, type I, MIM# 230500
  • GM1-gangliosidosis, type II, MIM# 230600
Tags
Green Green List (high evidence)
GLB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • GM1-gangliosidosis, type III, MIM#230650
  • white matter abnormality
Tags
Green Green List (high evidence)
GLRX5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spasticity, childhood-onset, with hyperglycinemia 616859
Tags
Green Green List (high evidence)
GPRC5B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447
Tags
Green Green List (high evidence)
GRN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842
Tags
Green Green List (high evidence)
HEPACAM
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926
Tags
Green Green List (high evidence)
HEPACAM
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926
Tags
Green Green List (high evidence)
HEXA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Tay-Sachs disease, MIM# 272800
Tags
Green Green List (high evidence)
HEXA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800
Tags
Green Green List (high evidence)
HIKESHI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 13, MIM#616881
Tags
Green Green List (high evidence)
HMBS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy, porphyria-related, MIM# 620711
Tags
Green Green List (high evidence)
HMGCL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMG-CoA lyase deficiency, 246450
Tags
  • treatable
Green Green List (high evidence)
HPDL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026
  • Progressive neurological disorder
  • Leigh-like syndrome
Tags
Green Green List (high evidence)
HSD17B4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • D-bifunctional protein deficiency
Tags
Green Green List (high evidence)
HSPD1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 13, autosomal dominant, 605280
  • Leukodystrophy, hypomyelinating, 4, 612233
Tags
Green Green List (high evidence)
HTRA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
  • CARASIL syndrome, 600142
Tags
Green Green List (high evidence)
IBA57
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 3, MIM#615330
Tags
Green Green List (high evidence)
IFIH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Aicardi-Goutieres syndrome 7 MIM#615846
Tags
Green Green List (high evidence)
ISCA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 5 MIM#617613
Tags
Green Green List (high evidence)
ISCA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 4, 616370
Tags
Green Green List (high evidence)
KARS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy with or without deafness (LEPID), MIM#619147
Tags
Green Green List (high evidence)
KIF5A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myoclonus, intractable, neonatal, MIM#617235
Tags
Green Green List (high evidence)
L2HGDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • L-2-hydroxyglutaric aciduria, MIM# 236792
Tags
Green Green List (high evidence)
L2HGDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • L-2-hydroxyglutaric aciduria, 236792
Tags
Green Green List (high evidence)
LAMB1
4 reviews
1 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukodystrophy, MONDO:0019046, LAMB1-related
  • Retinal Vascular Abnormality
  • mild intellectual disability
  • white matter lesions
  • lower limb spasticity
Tags
Green Green List (high evidence)
LARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukodystrophy
Tags
Green Green List (high evidence)
LIG3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Tags
Green Green List (high evidence)
LIG3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Tags
Green Green List (high evidence)
LMNB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Australian Genomcis Health Alliance Leukodystrophy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500
  • Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061
Tags
  • SV/CNV
Green Green List (high evidence)
LYRM7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • 615838
  • Mitochondrial complex III deficiency, nuclear type 8
  • leukoencephalopathy and complex III deficiency
  • severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
Tags
Green Green List (high evidence)
MAN2B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mannosidosis, alpha-, types I and II, MIM#248500
Tags
Green Green List (high evidence)
MAPT
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • semantic dementia MONDO:0010857
Tags
Green Green List (high evidence)
MCOLN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mucolipidosis IV, MIM# 252650
Tags
Green Green List (high evidence)
MEF2C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443
Tags
Green Green List (high evidence)
MLC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts, MIM# 604004
Tags
Green Green List (high evidence)
MTFMT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 15
  • 22499348
  • 23499752
  • 614947
Tags
Green Green List (high evidence)
MTHFR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Homocystinuria due to MTHFR deficiency, 236250
Tags
Green Green List (high evidence)
NAXD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, 618321
Tags
Green Green List (high evidence)
NAXE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186
Tags
Green Green List (high evidence)
NDUFAF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
NDUFAF3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency 252010
Tags
Green Green List (high evidence)
NDUFS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial complex I disorders
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
NDUFS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I disorders
  • Leigh syndrome
  • Mitochondrial Leukoencephalopathy
  • Leigh syndrome associated with mitochondrial complex I deficiency
Tags
Green Green List (high evidence)
NDUFS4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency
  • Mitochondrial complex I disorders
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
NDUFS7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial respiratory chain complex I deficiency
  • Leigh syndrome
  • Genetic leukoencephalopathies: mitochondrial disorders
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
NDUFS8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • 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
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
NDUFV2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229)
Tags
Green Green List (high evidence)
NFE2L2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591
  • Disorders of glutathione metabolism
Tags
Green Green List (high evidence)
NFU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 1, MIM#605711
Tags
Green Green List (high evidence)
NKX6-2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Tags
Green Green List (high evidence)
NOTCH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Tags
Green Green List (high evidence)
NOTCH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Tags
Green Green List (high evidence)
NOTCH2NLC_NIID_GGC
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuronal intranuclear inclusion disease MIM#603472
  • Oculopharyngodistal myopathy 3 MIM#619473
  • Tremor, hereditary essential, 6 MIM#618866
Tags
Green Green List (high evidence)
NOTCH3
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, NOTCH3-related
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310
Tags
Green Green List (high evidence)
NPC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Niemann-Pick disease, type C1/D, MIM# 257220
Tags
Green Green List (high evidence)
NPC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Niemann-Pick disease, type C1/D 257220
Tags
Green Green List (high evidence)
NUBPL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
PAFAH1B1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lissencephaly 1, MIM# 607432
  • Subcortical laminar heterotopia, MIM# 607432
  • MONDO:0011830
Tags
Green Green List (high evidence)
PAH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600
Tags
  • treatable
Green Green List (high evidence)
PC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Pyruvate carboxylase deficiency, MIM#266150
Tags
Green Green List (high evidence)
PEX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 1B (NALD/IRD), 601539
Tags
Green Green List (high evidence)
PEX10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 6B, 614871
Tags
Green Green List (high evidence)
PEX11B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • ?Peroxisome biogenesis disorder 14B, 614920
Tags
Green Green List (high evidence)
PEX12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 3A, 614859
  • Peroxisome biogenesis disorder 3B, 266510
Tags
Green Green List (high evidence)
PEX13
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 11B, 614885
  • Peroxisome biogenesis disorder 11A (Zellweger), 614883
Tags
Green Green List (high evidence)
PEX14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 13A (Zellweger), 614887
Tags
Green Green List (high evidence)
PEX16
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 8A (Zellweger), 614876
  • Peroxisome biogenesis disorder 8B, 614877
Tags
Green Green List (high evidence)
PEX19
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger), 614886
Tags
Green Green List (high evidence)
PEX2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 5B, 614867
  • Peroxisome biogenesis disorder 5A (Zellweger) 614866
Tags
Green Green List (high evidence)
PEX26
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger), 614872
  • Peroxisome biogenesis disorder 7B, 614873
Tags
Green Green List (high evidence)
PEX3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger), 614882
  • ?Peroxisome biogenesis disorder 10B, 617370
Tags
Green Green List (high evidence)
PEX5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger), 214110
  • Peroxisome biogenesis disorder 2B, 202370
Tags
Green Green List (high evidence)
PEX6
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger), 614862
  • Peroxisome biogenesis disorder 4B, 614863
Tags
Green Green List (high evidence)
PEX7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 9B, 614879
Tags
Green Green List (high evidence)
PI4KA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental syndrome with hypomyelinating leukodystrophy
Tags
Green Green List (high evidence)
PLP1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Pelizaeus-Merzbacher disease, 312080
Tags
Green Green List (high evidence)
PLP1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pelizaeus-Merzbacher disease, MIM# 312080
Tags
Green Green List (high evidence)
POLG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
Tags
Green Green List (high evidence)
POLG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662
Tags
Green Green List (high evidence)
POLR1C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 11, MIM# 616494
Tags
Green Green List (high evidence)
POLR1C
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukodystrophy, hypomyelinating, 11, MIM# 616494
Tags
Green Green List (high evidence)
POLR3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694
Tags
Green Green List (high evidence)
POLR3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • POLR3A-related disorder MONDO:0700276
Tags
Green Green List (high evidence)
POLR3B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381
Tags
Green Green List (high evidence)
POLR3B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381
Tags
Green Green List (high evidence)
POLR3K
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • POLR3-related leukodystrophy MONDO:0700282
Tags
  • founder
Green Green List (high evidence)
PPP1R21
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383
  • Hypotonia
  • intellectual disability
  • white matter abnormalities
Tags
Green Green List (high evidence)
PRNP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • fatal familial insomnia MONDO:0010808
Tags
Green Green List (high evidence)
PRNP_CJD_octapeptide
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Creutzfeldt-Jakob disease MIM#123400
  • Gerstmann-Straussler disease MIM#137440
Tags
Green Green List (high evidence)
PSAP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900
Tags
Green Green List (high evidence)
PSAP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Metachromatic leukodystrophy due to SAP-b deficiency, 249900
  • Krabbe disease, atypical, 611722
Tags
Green Green List (high evidence)
PSEN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • early-onset autosomal dominant Alzheimer disease MONDO:0015140
Tags
Green Green List (high evidence)
PSEN2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • early-onset autosomal dominant Alzheimer disease MONDO:0015140
Tags
Green Green List (high evidence)
PTEN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cowden syndrome 1, MIM# 158350
Tags
Green Green List (high evidence)
PTEN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cowden syndrome 1, MIM# 158350
Tags
Green Green List (high evidence)
PYCR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukodystrophy, hypomyelinating, 10, MIM# 616420
Tags
Green Green List (high evidence)
RAB11B
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807
Tags
Green Green List (high evidence)
RARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Australian Genomcis Health Alliance Leukodystrophy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 9 616140
Tags
Green Green List (high evidence)
RNASEH2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres syndrome 4, MIM# 610333
Tags
Green Green List (high evidence)
RNASEH2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 4, 610333
Tags
Green Green List (high evidence)
RNASEH2B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 2, 610181
Tags
Green Green List (high evidence)
RNASEH2B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres syndrome 2, MIM# 610181
Tags
Green Green List (high evidence)
RNASEH2C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres syndrome 3, MIM# 610329
Tags
Green Green List (high evidence)
RNASEH2C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 3, 610329
Tags
Green Green List (high evidence)
RNASET2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951
Tags
Green Green List (high evidence)
RNF220
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688
  • Leukodystrophy
  • CNS hypomyelination
  • Ataxia
  • Intellectual disability
  • Sensorineural hearing impairment
  • Elevated hepatic transaminases
  • Hepatic fibrosis
  • Dilated cardiomyopathy
  • Spastic paraplegia
  • Dysarthria
  • Abnormality of the corpus callosum
Tags
  • founder
Green Green List (high evidence)
RPIA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ribose 5-phosphate isomerase deficiency, MIM# 608611
Tags
Green Green List (high evidence)
RPIA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Royal Melbourne Hospital
Phenotypes
  • Ribose 5-phosphate isomerase deficiency, MIM#608611
Tags
Green Green List (high evidence)
RRM2B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Aicardi-Goutieres syndrome 5, 612952
Tags
Green Green List (high evidence)
SAMHD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres syndrome 5, MIM# 612952
Tags
Green Green List (high evidence)
SCO1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency 220110
Tags
Green Green List (high evidence)
SCO2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377
Tags
Green Green List (high evidence)
SDHA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial respiratory chain complex II deficiency, MIM#252011
Tags
Green Green List (high evidence)
SDHAF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial complex II deficiency 252011
Tags
Green Green List (high evidence)
SDHB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Australian Genomcis Health Alliance Leukodystrophy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Succinate dehydrogenase-deficient leukoencephalopathy
  • Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224
  • Complex II deficiency
  • mitochondrial leucoencephalopathy
Tags
Green Green List (high evidence)
SLC13A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)
Tags
Green Green List (high evidence)
SLC16A2
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Allan-Herndon-Dudley syndrome, MIM# 300523
  • Hypomyelination
Tags
Green Green List (high evidence)
SLC17A5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
SLC17A5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Salla disease 604369
  • Sialic acid storage disorder, infantile 269920
Tags
Green Green List (high evidence)
SLC25A12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Hypomyelination, global cerebral 612949
Tags
Green Green List (high evidence)
SLC25A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
SNORD118
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Australian Genomcis Health Alliance Leukodystrophy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • 614561
  • Leukoencephalopathy, brain calcifications and cysts, 614561
Tags
  • non-coding gene
Green Green List (high evidence)
SNORD118
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy, brain calcifications, and cysts 614561
Tags
  • non-coding gene
Green Green List (high evidence)
SOX10
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy
  • PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
SPART
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Troyer syndrome 275900
Tags
Green Green List (high evidence)
SPG11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 11, autosomal recessive, MIM# 604360
Tags
Green Green List (high evidence)
SPG11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2X, 616668
  • Spastic paraplegia 11, autosomal recessive, MIM#604360
Tags
Green Green List (high evidence)
SPG21
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mast syndrome 248900
Tags
  • new gene name
Green Green List (high evidence)
SUCLA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 5
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Tags
Green Green List (high evidence)
SUMF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • 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
  • Royal Melbourne Hospital
  • 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
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
TMEM106B
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Australian Genomcis Health Alliance Leukodystrophy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating 16, MIM#617964
Tags
Green Green List (high evidence)
TMEM163
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypomyelinating leukodystrophy, MONDO:0019046
Tags
Green Green List (high evidence)
TMEM63A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 19, transient infantile 618688
Tags
Green Green List (high evidence)
TPP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220
Tags
Green Green List (high evidence)
TREM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193
Tags
Green Green List (high evidence)
TREX1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
  • Vasculopathy, retinal, with cerebral leukodystrophy, 192315
Tags
Green Green List (high evidence)
TREX1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750
Tags
Green Green List (high evidence)
TUBB4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, MIM#612438
Tags
Green Green List (high evidence)
TUBB4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, MIM# 612438
Tags
Green Green List (high evidence)
TUFM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Combined oxidative phosphorylation deficiency 4, MIM# 610678
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
TYMP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
TYMP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
Tags
Green Green List (high evidence)
TYROBP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770
Tags
Green Green List (high evidence)
UFM1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 14 617899
Tags
Green Green List (high evidence)
VPS11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, MIM#616683
Tags
  • founder
Green Green List (high evidence)
WARS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317
Tags
Green Green List (high evidence)
WARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710
Tags
Green Green List (high evidence)
ZFYVE26
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 15, autosomal recessive, MIM# 270700
Tags
Green Green List (high evidence)
ZFYVE26
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 15, autosomal recessive, 270700
Tags
Amber Amber List (moderate evidence)
AARS
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661
Tags
Amber Amber List (moderate evidence)
ABCC9
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability and myopathy syndrome, MIM# 619719
Tags
Amber Amber List (moderate evidence)
ANXA11
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Inclusion body myopathy and brain white matter abnormalities, MIM# 619733
Tags
  • founder
Amber Amber List (moderate evidence)
AQP4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448
Tags
Amber Amber List (moderate evidence)
ATP7B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Wilson disease, 277900
Tags
Amber Amber List (moderate evidence)
CNP
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 20, MIM# 619071
Tags
Amber Amber List (moderate evidence)
CTC1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Cerebroretinal microangiopathy with calcifications and cysts, 612199
Tags
Amber Amber List (moderate evidence)
CYP2U1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 56, autosomal recessive 615030
Tags
Amber Amber List (moderate evidence)
ERCC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Trichothiodystrophy 1, photosensitive 601675
Tags
Amber Amber List (moderate evidence)
FBP2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Leukodystrophy, childhood-onset, remitting, MIM# 619864
Tags
Amber Amber List (moderate evidence)
FDX2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900
Tags
Amber Amber List (moderate evidence)
GCDH
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Glutaric aciduria, type I, MIM#231670
Tags
Amber Amber List (moderate evidence)
GFPT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates 610542
  • Leukoencephalopathy
Tags
Amber Amber List (moderate evidence)
ITM2B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • ABri amyloidosis MONDO:0008306
Tags
Amber Amber List (moderate evidence)
LAMB1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cystic leukoencephalopathy
Tags
Amber Amber List (moderate evidence)
LSM7
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy and cerebellar atrophy, MIM# 621191
Tags
Amber Amber List (moderate evidence)
MAL
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 28, MIM# 620978
Tags
Amber Amber List (moderate evidence)
MCOLN1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Mucolipidosis IV, 252650
Tags
Amber Amber List (moderate evidence)
MLC1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Amber Amber List (moderate evidence)
NDUFA2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 13 618235
  • leukoencephalopathy
Tags
Amber Amber List (moderate evidence)
NPC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Niemann-pick disease, type C2 607625
Tags
Amber Amber List (moderate evidence)
PLD3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy
Tags
Amber Amber List (moderate evidence)
PLEKHG2
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Leukodystrophy and acquired microcephaly with or without dystonia 616763
Tags
Amber Amber List (moderate evidence)
POLG2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Tags
Amber Amber List (moderate evidence)
POLR1A
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 27, MIM# 620675
Tags
Amber Amber List (moderate evidence)
PPT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1 256730
Tags
Amber Amber List (moderate evidence)
RNASET2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Leukoencephalopathy, cystic, without megalencephaly, 612951
Tags
Amber Amber List (moderate evidence)
RNF216
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Tags
Amber Amber List (moderate evidence)
SLC13A5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 25 615905
Tags
Amber Amber List (moderate evidence)
SLC35B2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, MONDO:0019046, SLC35B2-related
Tags
Amber Amber List (moderate evidence)
SLC7A2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, MONDO:0019046, SLC7A2-related
Tags
  • founder
Amber Amber List (moderate evidence)
SPAST
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 4, autosomal dominant 182601
Tags
Amber Amber List (moderate evidence)
SPG7
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 7, autosomal recessive 607259
Tags
Amber Amber List (moderate evidence)
TBCB
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382
Tags
Amber Amber List (moderate evidence)
TOMM70
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, MONDO:0019046, TOMM70-related
Tags
Amber Amber List (moderate evidence)
TWNK
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245
Tags
Amber Amber List (moderate evidence)
TWNK
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
  • Perrault syndrome 5 616138
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286
Tags
Red Red List (low evidence)
AIMP2
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 17 618006
Tags
Red Red List (low evidence)
APOPT1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial complex IV deficiency, MIM#220110
Tags
Red Red List (low evidence)
ATPAF2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Tags
Red Red List (low evidence)
COL4A2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Brain small vessel disease 2, 614483
Tags
Red Red List (low evidence)
COQ8A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4 612016
Tags
Red Red List (low evidence)
COQ9
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5 614654
Tags
Red Red List (low evidence)
EARS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Combined oxidative phosphorylation deficiency 12, 614924
  • Leukoencephalopathy with thalamus and brainstem involvement and high lactate
Tags
Red Red List (low evidence)
ELP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092, ELP1-related
Tags
Red Red List (low evidence)
ERCC3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Trichothiodystrophy 2, photosensitive 616390
Tags
Red Red List (low evidence)
GAN
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Giant axonal neuropathy-1, MIM#256850
Tags
Red Red List (low evidence)
GTF2H5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Trichothiodystrophy 3, photosensitive 616395
Tags
Red Red List (low evidence)
MARS
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Tags
Red Red List (low evidence)
MPLKIP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Trichothiodystrophy 4, nonphotosensitive 234050
Tags
Red Red List (low evidence)
MRPS16
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Australian Genomcis Health Alliance Leukodystrophy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 2, 610498
Tags
Red Red List (low evidence)
OCLN
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Pseudo-TORCH syndrome 1 251290
Tags
Red Red List (low evidence)
OCRL
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Royal Melbourne Hospital
  • Expert Review Red
Phenotypes
  • Lowe syndrome, 309000
Tags
Red Red List (low evidence)
PHGDH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neu-Laxova syndrome 1 256520
  • Phosphoglycerate dehydrogenase deficiency 601815
Tags
Red Red List (low evidence)
POLR3D
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Leukodystrophy, MONDO:0019046, POLR3D-related
Tags
Red Red List (low evidence)
PRF1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 2 603553
Tags
Red Red List (low evidence)
PSAT1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neu-Laxova syndrome 2 616038
  • ?Phosphoserine aminotransferase deficiency 610992
Tags
Red Red List (low evidence)
RPS6KA3
1 review
1 red 		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
  • Royal Melbourne Hospital
Phenotypes
  • Coffin-Lowry syndrome, 303600
Tags
Red Red List (low evidence)
SCP2
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy 613724
Tags
Red Red List (low evidence)
SLC25A1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Combined D-2- and L-2-hydroxyglutaric aciduria 615182
Tags
Red Red List (low evidence)
STX11
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 4 603552
Tags
Red Red List (low evidence)
STXBP2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 5 613101
Tags
Red Red List (low evidence)
TACO1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Leukoencephalopathy, adult onset
Tags
Red Red List (low evidence)
U2AF2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535
Tags
Red Red List (low evidence)
UNC13D
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 3 608898
Tags
Red Red List (low evidence)
ZNF319
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Leukodystrophy, MONDO:0019046, ZNF319-related
Tags

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