White matter disorders and cerebral calcification

The latest signed off version for the GMS is v1.12. The current version, shown here, may differ from the signed-off version.

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

9 reviewers

Jenny Simmonds (Leeds Teaching Hospitals Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Konstantinos Varvagiannis (Other)

Group: Other
Workplace: Other clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (Faculty of Health, University of Plymouth)

Group: Other
Workplace: Other

235 Entities

79 reviewed, 140 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 235 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	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisomal acyl-CoA oxidase deficiency 264470 General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitchell syndrome, OMIM:618960 Tags Q3_21_MOI
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, OMIM:260600 Tags
Green Green List (high evidence)	ALDH3A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sjogren-Larsson syndrome, OMIM:270200 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 Pettigrew syndrome, OMIM:304340 Calcifications in basal ganglia Tags
Green Green List (high evidence)	AP4B1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066 Hereditary spastic paraplegia 47, MONDO:0013551 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, OMIM:615651 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 Coenzyme Q10 deficiency, primary, 1, OMIM:607426 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	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476 Tags Q4_21_MOI
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	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebrooculofacioskeletal syndrome 4, OMIM:610758 Tags Q3_21_rating
Green Green List (high evidence)	ERCC2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Trichothiodystrophy 1, photosensitive, OMIM:601675 Tags Q2_21_rating
Green Green List (high evidence)	ERCC3	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Trichothiodystrophy 2, photosensitive, OMIM:616390 Xeroderma pigmentosum, group B, OMIM:610651 Tags Q2_21_rating
Green Green List (high evidence)	ERCC4	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, type F/Cockayne syndrome, OMIM:278760 XFE progeroid syndrome, OMIM:610965 Tags Q2_21_rating
Green Green List (high evidence)	ERCC5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebrooculofacioskeletal syndrome 3 OMIM:616570 Xeroderma pigmentosum, group G/Cockayne syndrome OMIM:278780 Tags Q2_21_rating
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)	FIG4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4J, OMIM:611228 Yunis-Varon syndrome, OMIM:216340 leukoencephalopathy, HP:0002352 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, OMIM:245200 Tags
Green Green List (high evidence)	GBE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polyglucosan body disease, adult form, OMIM:263570 General Leukodystrophy & Mitochondrial Leukoencephalopathy 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, OMIM:164200 Oculodentodigital dysplasia, autosomal recessive, OMIM:257850 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	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes delayed myelination Tags Q2_21_expert_review Q2_21_rating
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 2A, OMIM:613925 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926 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, OMIM:615330 Tags
Green Green List (high evidence)	IFIH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Aicardi-Goutieres syndrome 7, OMIM:615846 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	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lissencephaly 5, OMIM:615191 Cystic leukoencephalopathy 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, OMIM:169500 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	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Trichothiodystrophy 4, nonphotosensitive, OMIM:234050 Tags Q2_21_expert_review Q2_21_rating
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, OMIM:617560 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)	NUP188	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sandestig-Stefanova syndrome, 618804 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	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863 Tags Q1_22_MOI
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	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, variant type, OMIM:278750 Tags Q2_21_rating
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, OMIM:614381 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 2, OMIM:610181 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)	RNU7-1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi–Goutières syndrome-like Type I interferonopathy Tags gene-checked
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)	SCAF4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes SCAF4-related Neurodevelopmental Disorder Intellectual disability Seizures Behavioural abnormalities Tags gene-checked
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 Allan-Herndon-Dudley syndrome, OMIM:300523 General Leukodystrophy & Mitochondrial Leukoencephalopathy Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease Monocarboxylate transporter 8 deficiency (MCT8) 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	1 review	BOTH monoallelic and 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)	STN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341 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)	TMEM106B	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 16, OMIM:617964 Leukodystrophy, hypomyelinating, 16, MONDO:0054791 Tags missense
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	1 review	BOTH monoallelic and 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)	AARS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339 Developmental and epileptic encephalopathy, 29, MONDO:0014593 Tags new-gene-name Q2_21_rating
Amber Amber List (moderate evidence)	ABHD16A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic paraplegia Intellectual disability Tags Q4_21_rating
Amber Amber List (moderate evidence)	ACBD5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Retinal dystrophy with leukodystrophy, OMIM:618863 Tags Q2_21_rating
Amber Amber List (moderate evidence)	ACER3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, progressive, early childhood-onset, OMIM:617762 Tags Q1_22_rating
Amber Amber List (moderate evidence)	AIFM1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Amber Phenotypes Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232 Tags Q2_21_rating
Amber Amber List (moderate evidence)	APOPT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Tags new-gene-name Q2_21_rating
Amber Amber List (moderate evidence)	ATP11A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder Tags watchlist
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)	AUH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes 3-methylglutaconic aciduria, type I, OMIM:250950 Tags Q2_21_rating
Amber Amber List (moderate evidence)	BOLA3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, OMIM:614299 Tags Q2_21_rating
Amber Amber List (moderate evidence)	CLDN11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hypomyelinating leukodystrophy Tags Q2_21_rating
Amber Amber List (moderate evidence)	CLPP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Perrault syndrome 3, OMIM:614129 Tags Q3_21_rating
Amber Amber List (moderate evidence)	CNP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Leukodystrophy, hypomyelinating, 20, OMIM:619071 Tags watchlist
Amber Amber List (moderate evidence)	CNTNAP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hypomyelinating neuropathy, congenital, 3, OMIM:618186 Tags Q2_21_rating
Amber Amber List (moderate evidence)	COA7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 Tags Q2_21_rating
Amber Amber List (moderate evidence)	COLGALT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Brain small vessel disease 3, OMIM:618360 Tags Q4_21_rating
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)	DCAF17	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Woodhouse-Sakati syndrome, OMIM:241080 Tags Q2_21_rating
Amber Amber List (moderate evidence)	DEGS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Leukodystrophy, hypomyelinating, 18, OMIM:618404 Tags Q2_21_rating
Amber Amber List (moderate evidence)	ELOVL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527 Tags missense Q4_21_rating
Amber Amber List (moderate evidence)	EPRS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Leukodystrophy, hypomyelinating, 15, MIM# 617951 Tags new-gene-name Q2_21_rating
Amber Amber List (moderate evidence)	FA2H	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Spastic paraplegia 35, autosomal recessive OMIM:612319 hereditary spastic paraplegia 35 MONDO:0012866 Tags Q2_21_rating
Amber Amber List (moderate evidence)	FARSA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013 Tags Q4_21_rating
Amber Amber List (moderate evidence)	GLB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes GM1-gangliosidosis, type I, OMIM:230500 GM1-gangliosidosis, type II, OMIM:230600 Tags Q2_21_rating
Amber Amber List (moderate evidence)	GLRX5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859 Tags Q2_21_rating
Amber Amber List (moderate evidence)	HIKESHI	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Leukodystrophy, hypomyelinating, 13, OMIM:616881 Tags Q2_21_rating
Amber Amber List (moderate evidence)	HSPD1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 Tags Q2_21_rating
Amber Amber List (moderate evidence)	ISCA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Multiple mitochondrial dysfunctions syndrome 5, OMIM:617613 Tags Q2_21_rating
Amber Amber List (moderate evidence)	ISCA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Multiple mitochondrial dysfunctions syndrome 4, OMIM:616370 Tags founder-effect Q2_21_rating
Amber Amber List (moderate evidence)	KIAA1161	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317 Tags gene-checked new-gene-name Q2_21_rating
Amber Amber List (moderate evidence)	KIF5A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Myoclonus, intractable, neonatal, OMIM:617235 Tags Q2_21_rating
Amber Amber List (moderate evidence)	LIG3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes gut dysmotility spasticity ataxia repetitive behaviours neurogenic bladder macular degeneration leukoencephalopathy cerebellar atrophy mitochondrial DNA depletion Tags Q2_21_rating
Amber Amber List (moderate evidence)	MAL	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes developmental delay nystagmus progressive motor deterioration dysmyelination 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)	NAXD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321 Tags Q2_21_rating
Amber Amber List (moderate evidence)	NAXE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 Tags Q2_21_rating
Amber Amber List (moderate evidence)	NDUFV2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 Progressive cavitating leukoencephalopathy, MONDO:0015349 Tags watchlist
Amber Amber List (moderate evidence)	NFU1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 Tags Q2_21_rating
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)	PI4KA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 Tags Q3_21_rating
Amber Amber List (moderate evidence)	PNPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932 Tags Q1_22_rating
Amber Amber List (moderate evidence)	POLR3K	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 21, OMIM:619310 Tags founder-effect watchlist
Amber Amber List (moderate evidence)	PTEN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Cowden syndrome 1, OMIM:158350 Tags Q3_21_rating
Amber Amber List (moderate evidence)	RAB11B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 Tags Q2_21_rating
Amber Amber List (moderate evidence)	RNF220	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Other Phenotypes Leukodystrophy, MONDO:0019046 Abnormal corpus callosum morphology, HP:0001273 Tags Q4_21_rating
Amber Amber List (moderate evidence)	RPIA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Ribose 5-phosphate isomerase deficiency, OMIM:608611 Tags Q2_21_rating
Amber Amber List (moderate evidence)	SDHA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mitochondrial respiratory chain complex II deficiency, OMIM:252011 Tags Q2_21_rating
Amber Amber List (moderate evidence)	SNORD118	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Leukoencephalopathy, brain calcifications, and cysts, OMIM:614561 Tags locus-type-small-nucleolar Q2_21_rating Q2_22_NHS_review Q2_22_rating
Amber Amber List (moderate evidence)	SPART	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Troyer syndrome, OMIM:275900 Tags Q2_21_rating
Amber Amber List (moderate evidence)	SPG11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Spastic paralplegia 11, autosomal recessive, OMIM:604360 Tags Q2_21_rating
Amber Amber List (moderate evidence)	TMEM63A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Leukodystrophy, hypomyelinating, 19, transient infantile, OMIM:618688 Tags Q2_21_rating
Amber Amber List (moderate evidence)	TUFM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mitochondrial Leukoencephalopathy Combined oxidative phosphorylation deficiency 4, OMIM:610678 Tags Q2_21_rating
Amber Amber List (moderate evidence)	UFM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Leukodystrophy, hypomyelinating, 14, OMIM:617899 Tags Q2_21_rating
Amber Amber List (moderate evidence)	VPS11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Leukodystrophy, hypomyelinating, 12, OMIM:616683 Tags Q2_21_rating
Amber Amber List (moderate evidence)	WARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, OMIM:617710 Tags Q2_21_rating
Amber Amber List (moderate evidence)	ZFYVE26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Spastic paraplegia 15, autosomal recessive, OMIM:270700 Tags Q2_21_rating
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)	CYP7B1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spastic paraplegia 5A, autosomal recessive , OMIM:270800 Tags Q2_21_expert_review
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)	GTF2E2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 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)	HTRA1	0 reviews	Unknown	Sources Expert Review Red Phenotypes CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY Tags
Red Red List (low evidence)	LSM7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Leukodystrophy, MONDO:0019046 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)	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)	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, OMIM:300953 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)	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)	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

Major version comments

2019-01-08 15:20 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
Checked against super panel made up of the panel constituents. Ready to promote to version 1

White matter disorders and cerebral calcification - narrow panel (Version 1.240)

9 reviewers

235 Entities

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Phenotypes

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Phenotypes

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Phenotypes

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Phenotypes

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Phenotypes

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