Adult onset leukodystrophy (Version 3.24)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is used for clinical indication 'R62 Adult onset leukodystrophy' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'Adult onset leukodystrophy'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

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

Panel Activity

12 reviewers

Ian Berry (Leeds Genetics Laboratory)

Group: Other NHS organisation
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
Zornitza Stark (Australian Genomics)

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

Group: Other
Workplace: Other
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
David Lynch (UCL Institute of Neurology)

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

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

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

98 Entities

98 reviewed, 85 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 98 Entitiess
Green Green List (high evidence)	AARS	7 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287 Tags new-gene-name to_be_confirmed_NHSE
Green Green List (high evidence)	AARS2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889 Tags
Green Green List (high evidence)	ABCD1	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100 Tags
Green Green List (high evidence)	ALDH3A2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Sjogren-Larsson syndrome, OMIM:270200 Tags
Green Green List (high evidence)	APP	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714 Tags
Green Green List (high evidence)	ARSA	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Metachromatic leukodystrophy, 250100 Tags
Green Green List (high evidence)	AUH	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 3-methylglutaconic aciduria, type I, OMIM:250950 Tags
Green Green List (high evidence)	CLCN2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukoencephalopathy with ataxia, OMIM:615651 Tags
Green Green List (high evidence)	COL4A1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH 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)	COL4A2	7 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Brain small vessel disease 2, OMIM:614483 Tags to_be_confirmed_NHSE
Green Green List (high evidence)	CSF1R	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 Tags
Green Green List (high evidence)	CTSA	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Galactosialidosis, 256540 Tags
Green Green List (high evidence)	CYP27A1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green Green List (high evidence)	DARS	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 Tags new-gene-name
Green Green List (high evidence)	DARS2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Tags
Green Green List (high evidence)	EIF2B1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Tags
Green Green List (high evidence)	EIF2B2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy, 603896 Tags
Green Green List (high evidence)	EIF2B3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Tags
Green Green List (high evidence)	EIF2B4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Tags
Green Green List (high evidence)	EIF2B5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Tags
Green Green List (high evidence)	EPRS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 15, OMIM:617951 Tags new-gene-name
Green Green List (high evidence)	GALC	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Krabbe disease, OMIM:245200 Tags
Green Green List (high evidence)	GBE1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Polyglucosan body disease, adult form, OMIM:263570 Tags
Green Green List (high evidence)	GFAP	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Alexander disease, 203450 Tags
Green Green List (high evidence)	GJA1	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Oculodentodigital dysplasia, OMIM:164200 Oculodentodigital dysplasia, autosomal recessive, OMIM:257850 Tags
Green Green List (high evidence)	GJB1	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 Tags
Green Green List (high evidence)	GJC2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukodystrophy, hypomyelinating, 2, 608804, Tags
Green Green List (high evidence)	GLA	6 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Fabry disease, Fabry disease, cardiac variant, 301500 Tags
Green Green List (high evidence)	GLB1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes white matter abnormality Tags
Green Green List (high evidence)	GSN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Amyloidosis, Finnish type, OMIM:105120 Finnish type amyloidosis, MONDO:0007097 Tags
Green Green List (high evidence)	HEPACAM	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH 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)	HEXA	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800 Tags
Green Green List (high evidence)	HMGCL	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes HMG-CoA lyase deficiency, OMIM:246450 3-hydroxy-3-methylglutaric aciduria, MONDO:0009520 Tags Q4_23_demote_amber Q4_23_expert_review
Green Green List (high evidence)	HTRA1	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes CARASIL syndrome, 600142 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 Tags
Green Green List (high evidence)	ITM2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Dementia, familial British, OMIM:176500 ABri amyloidosis, MONDO:0008306 Dementia, familial Danish, OMIM:117300 ADan amyloidosis, MONDO:0007297 Tags
Green Green List (high evidence)	L2HGDH	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Green Green List (high evidence)	LAMB1	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Lissencephaly 5, OMIM:615191 cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077 Tags
Green Green List (high evidence)	LARS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Perrault syndrome 4, OMIM:615300 Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 Leukodystrophy Tags
Green Green List (high evidence)	LIG3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes gut dysmotility spasticity ataxia repetitive behaviours neurogenic bladder macular degeneration leukoencephalopathy cerebellar atrophy mitochondrial DNA depletion Tags
Green Green List (high evidence)	LMNB1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500 Tags
Green Green List (high evidence)	MARS	7 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2U, 616280 Tags new-gene-name to_be_confirmed_NHSE
Green Green List (high evidence)	MCOLN1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Mucolipidosis IV, 252650 Tags
Green Green List (high evidence)	MTHFR	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Homocystinuria due to MTHFR deficiency, 236250 Tags
Green Green List (high evidence)	NOTCH3	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 Tags
Green Green List (high evidence)	OCRL	7 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Lowe syndrome, OMIM:309000 Tags Q4_23_demote_amber Q4_23_expert_review
Green Green List (high evidence)	PAH	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600 Tags
Green Green List (high evidence)	PEX1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 Tags
Green Green List (high evidence)	PEX10	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Peroxisome biogenesis disorder 6B, 614871 Tags
Green Green List (high evidence)	PEX11B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes ?Peroxisome biogenesis disorder 14B, 614920 Tags
Green Green List (high evidence)	PEX12	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Peroxisome biogenesis disorder 3A, 614859 Peroxisome biogenesis disorder 3B, 266510 Tags
Green Green List (high evidence)	PEX13	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Peroxisome biogenesis disorder 11A (Zellweger), 614883 Peroxisome biogenesis disorder 11B, 614885 Tags
Green Green List (high evidence)	PEX14	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Peroxisome biogenesis disorder 13A (Zellweger), 614887 Tags
Green Green List (high evidence)	PEX16	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Peroxisome biogenesis disorder 8A (Zellweger), 614876 Peroxisome biogenesis disorder 8B, 614877 Tags
Green Green List (high evidence)	PEX19	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 Tags
Green Green List (high evidence)	PEX2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Peroxisome biogenesis disorder 5A (Zellweger) 614866 Peroxisome biogenesis disorder 5B, 614867 Tags
Green Green List (high evidence)	PEX26	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Peroxisome biogenesis disorder 7B, 614873 Peroxisome biogenesis disorder 7A (Zellweger), 614872 Tags
Green Green List (high evidence)	PEX3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes ?Peroxisome biogenesis disorder 10B, 617370 Peroxisome biogenesis disorder 10A (Zellweger), 614882 Tags
Green Green List (high evidence)	PEX5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Peroxisome biogenesis disorder 2B, 202370 Peroxisome biogenesis disorder 2A (Zellweger), 214110 Tags
Green Green List (high evidence)	PEX6	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Peroxisome biogenesis disorder 4B, 614863 Peroxisome biogenesis disorder 4A (Zellweger), 614862 Tags
Green Green List (high evidence)	PEX7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Peroxisome biogenesis disorder 9B, 614879 Tags
Green Green List (high evidence)	PLP1	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Pelizaeus-Merzbacher disease, 312080 Tags
Green Green List (high evidence)	POLR1C	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukodystrophy, hypomyelinating, 11 Tags to_be_confirmed_NHSE
Green Green List (high evidence)	POLR3A	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 Tags
Green Green List (high evidence)	POLR3B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381 Tags
Green Green List (high evidence)	PRNP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Cerebral amyloid angiopathy, PRNP-related, OMIM:137440 Gerstmann-Straussler disease, OMIM:137440 Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656 Tags
Green Green List (high evidence)	PSAP	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Krabbe disease, atypical, 611722 Metachromatic leukodystrophy due to SAP-b deficiency, 249900 Tags
Green Green List (high evidence)	PSEN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Alzheimer disease, type 3, OMIM:607822 Alzheimer disease 3, MONDO:0011913 Dementia, frontotemporal, OMIM:600274 semantic dementia, MONDO:0010857 Tags
Green Green List (high evidence)	PTEN	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Tags
Green Green List (high evidence)	RNASEH2A	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Aicardi-Goutieres syndrome 4, 610333 Tags
Green Green List (high evidence)	RNASEH2B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 Tags
Green Green List (high evidence)	RNASEH2C	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Aicardi-Goutieres syndrome 3, 610329 Tags
Green Green List (high evidence)	RNASET2	7 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 Tags to_be_confirmed_NHSE
Green Green List (high evidence)	RNF216	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840 Tags Q3_23_demote_amber Q3_23_expert_review
Green Green List (high evidence)	RPS6KA3	6 reviews 2 green 2 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 Green NHS GMS Yorkshire and North East GLH Phenotypes Coffin-Lowry syndrome, OMIM:303600 Tags Q3_23_demote_red Q3_23_expert_review
Green Green List (high evidence)	SAMHD1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Aicardi-Goutieres syndrome 5, 612952 Tags
Green Green List (high evidence)	SNORD118	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 Tags
Green Green List (high evidence)	SPG11	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2X, 616668 Tags
Green Green List (high evidence)	SPG21	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Mast syndrome, MIM# 248900 Tags
Green Green List (high evidence)	TREM2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 Tags
Green Green List (high evidence)	TREX1	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315 Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 Tags
Green Green List (high evidence)	TTR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Amyloidosis, hereditary, transthyretin-related, OMIM:105210 familial amyloid neuropathy, MONDO:0007100 Tags
Green Green List (high evidence)	TUBB4A	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukodystrophy, hypomyelinating, 6, 612438 Tags
Green Green List (high evidence)	TYMP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 Leukoencephalopathy Tags
Green Green List (high evidence)	TYROBP	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 Tags
Green Green List (high evidence)	ZFYVE26	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 Tags
Amber Amber List (moderate evidence)	CST3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber NHS GMS Phenotypes Cerebral amyloid angiopathy, OMIM:105150 ACys amyloidosis, MONDO:0007098 Tags founder-effect
Amber Amber List (moderate evidence)	CTC1	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199 Tags
Amber Amber List (moderate evidence)	EARS2	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Combined oxidative phosphorylation deficiency 12, 614924 Tags
Amber Amber List (moderate evidence)	GCDH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Glutaricaciduria, type I, OMIM:231670 glutaryl-CoA dehydrogenase deficiency, MONDO:0009281 Tags Q3_23_MOI Q3_23_promote_green
Amber Amber List (moderate evidence)	KIF5A	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Hereditary spastic paraplegia Tags
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)	NPC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Niemann-Pick disease, type C1/D 257220 Tags watchlist
Amber Amber List (moderate evidence)	PSEN2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber NHS GMS Phenotypes Alzheimer disease-4, OMIM:606889 Alzheimer disease 4, MONDO:0011743 Tags
Amber Amber List (moderate evidence)	TPP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes White matter abnormalities Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220 Tags
Red Red List (low evidence)	ADAR	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Aicardi-Goutieres syndrome 6, OMIM:615010 Tags
Red Red List (low evidence)	ASPA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Canavan disease, OMIM:271900 Tags
Red Red List (low evidence)	CYP7B1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Spastic paraplegia 5A, autosomal recessive , OMIM:270800 Tags
Red Red List (low evidence)	MAN2B1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mannosidosis, alpha-, types I and II, OMIM:248500 Tags

Major version comments

2023-03-22 15:59 Catherine Snow (Genomics England) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 14:57 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-12-11 14:43 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.24 was signed off under NHS Genomic Medicine Service governance on (11/12/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Adult onset leukodystrophy (Version 3.24)

12 reviewers

98 Entities

98 reviewed, 85 green

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