Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AARS gene AARS Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 29, OMIM:616339;Developmental and epileptic encephalopathy, 29, MONDO:0014593 28493438;25817015 False 3 100;0;0 7.24 False ENSG00000090861 ENSG00000090861 HGNC:20 AARS2 gene AARS2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ovarian failure;General Leukodystrophy & Mitochondrial Leukoencephalopathy 24808023;27251004;25655951;25705216 False 3 0;0;0 7.24 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABCD1 gene ABCD1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenoleukodystrophy, OMIM:300100;Adrenoleukodystrophy, adult, OMIM:300100 8040304;11810273;25655951 False 3 0;0;0 7.24 False ENSG00000101986 ENSG00000101986 HGNC:61 ABHD16A gene ABHD16A Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia;Intellectual disability 34587489 False 3 100;0;0 7.24 False ENSG00000204427 ENSG00000204427 HGNC:13921 ACBD5 gene ACBD5 Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with leukodystrophy, OMIM:618863 23105016;27899449;27799409;33427402 False 3 100;0;0 7.24 False ENSG00000107897 ENSG00000107897 HGNC:23338 ACER3 gene ACER3 Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, progressive, early childhood-onset, OMIM:617762 26792856;32816236;34281620 False 3 67;33;0 7.24 False ENSG00000078124 ENSG00000078124 HGNC:16066 ACOX1 gene ACOX1 Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470;Mitchell syndrome, OMIM:618960;General Leukodystrophy & Mitochondrial Leukoencephalopathy 17458872;25655951;11815777;32169171 False 3 100;0;0 7.24 False ENSG00000161533 ENSG00000161533 HGNC:119 ACP5 gene ACP5 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia;Spondyloenchondrodysplasia with immune dysregulation 21217752;21217755;26951490 False 3 0;0;0 7.24 False ENSG00000102575 ENSG00000102575 HGNC:124 ADAR gene ADAR Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010;Dyschromatosis symmetrica hereditaria, OMIM:127400 Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_584 False 3 0;0;0 7.24 False ENSG00000160710 ENSG00000160710 HGNC:225 AIFM1 gene AIFM1 Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232 28842795;27102849;33439541 False 3 100;0;0 7.24 False ENSG00000156709 ENSG00000156709 HGNC:8768 AIMP1 gene AIMP1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, OMIM:260600 False 3 0;0;0 7.24 False ENSG00000164022 ENSG00000164022 HGNC:10648 ALDH3A2 gene ALDH3A2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome, OMIM:270200;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 0;0;0 7.24 False ENSG00000072210 ENSG00000072210 HGNC:403 AP1S2 gene AP1S2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pettigrew syndrome, OMIM:304340;Calcifications in basal ganglia 10398241;17186471;17617514;22210230;23756445;30383884;30714330 False 3 0;0;0 7.24 False ENSG00000182287 ENSG00000182287 HGNC:560 AP4B1 gene AP4B1 Expert list;Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, OMIM:614066;Hereditary spastic paraplegia 47, MONDO:0013551 22290197;24700674;29193663;29430868;30337681 False 3 100;0;0 7.24 False ENSG00000134262 ENSG00000134262 HGNC:572 APOPT1 gene APOPT1 Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 25175347 False 3 100;0;0 7.24 False ENSG00000256053 ENSG00000256053 HGNC:20492 ARSA gene ARSA Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, 250100;Arylsulfatase A Deficiency False 3 0;0;0 7.24 False ENSG00000100299 ENSG00000100299 HGNC:713 ASPA gene ASPA Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy, 25655951 25655951 False 3 0;0;0 7.24 False ENSG00000108381 ENSG00000108381 HGNC:756 ATP11A gene ATP11A Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 24, OMIM:619851 34403372;39432785 False 3 67;33;0 7.24 False ENSG00000068650 ENSG00000068650 HGNC:13552 AUH gene AUH Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I, OMIM:250950 20855850;17130438 False 3 100;0;0 7.24 False ENSG00000148090 ENSG00000148090 HGNC:890 BCAP31 gene BCAP31 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, dystonia and cerebellar hypomyelination, 300475 False 3 0;0;0 7.24 False ENSG00000185825 ENSG00000185825 HGNC:16695 BCS1L gene BCS1L Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III disorders;Mitochondrial Leukoencephalopathy 25655951 False 3 0;0;0 7.24 False ENSG00000074582 ENSG00000074582 HGNC:1020 BLOC1S1 gene BLOC1S1 Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal severe intellectual disability;severe global developmental delay;epilepsy 33875846 False 3 100;0;0 7.24 False ENSG00000135441 ENSG00000135441 HGNC:4200 BOLA3 gene BOLA3 Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, OMIM:614299 29654549;29501406;24334290;21944046;30302924 False 3 100;0;0 7.24 False ENSG00000163170 ENSG00000163170 HGNC:24415 C2orf69 gene C2orf69 Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 53, OMIM:619423 34038740;33945503 False 3 100;0;0 7.24 False ENSG00000178074 ENSG00000178074 HGNC:26799 CIC gene CIC Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 45 617600 28288114;24896178;21076407 False 3 0;0;0 7.24 False ENSG00000079432 ENSG00000079432 HGNC:14214 CLCN2 gene CLCN2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ataxia, OMIM:615651 25655951 False 3 0;0;0 7.24 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLDN11 gene CLDN11 Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 22, OMIM:619328 33313762 False 3 100;0;0 7.24 False ENSG00000013297 ENSG00000013297 HGNC:8514 CLDN5 gene CLDN5 Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain calcifications 36477332 False 3 100;0;0 7.24 False ENSG00000184113 ENSG00000184113 HGNC:2047 CLPP gene CLPP Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, OMIM:614129 27899912;23541340;25956234;26970254;27087618;27650058 False 3 100;0;0 7.24 False ENSG00000125656 ENSG00000125656 HGNC:2084 CMPK2 gene CMPK2 Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial UMP-CMP kinase 2 deficiency;Developmental delay;Failure to thrive 33340416;36443312 False 3 100;0;0 7.24 False ENSG00000134326 ENSG00000134326 HGNC:27015 CNTNAP1 gene CNTNAP1 Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Hypomyelinating neuropathy, congenital, 3, OMIM:618186 28374019;29511323;29882456 False 3 100;0;0 7.24 False ENSG00000108797 ENSG00000108797 HGNC:8011 COA7 gene COA7 Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387;spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 27683825;29718187;30885959 False 3 100;0;0 7.24 False ENSG00000162377 ENSG00000162377 HGNC:25716 COL4A1 gene COL4A1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification;Porencephaly 1 MIM#607595 False 3 0;0;0 7.24 False ENSG00000187498 ENSG00000187498 HGNC:2202 COLGALT1 gene COLGALT1 Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Brain small vessel disease 3, OMIM:618360 30412317;33709034;31759980 False 3 100;0;0 7.24 False ENSG00000130309 ENSG00000130309 HGNC:26182 COQ2 gene COQ2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Coenzyme Q10 deficiency, primary, 1, OMIM:607426 25655951 False 3 0;0;0 7.24 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ8A gene COQ8A Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 4, 612016;Spinocerebellar Ataxia Type 25655951 False 3 0;0;0 7.24 False ENSG00000163050 ENSG00000163050 HGNC:16812 COX10 gene COX10 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046;General Leukodystrophy & Mitochondrial Leukoencephalopathy 24100867;25655951;12928484 False 3 0;0;0 7.24 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119;Mitochondrial Leukoencephalopathy 25655951 False 3 0;0;0 7.24 False ENSG00000014919 ENSG00000014919 HGNC:2263 CSF1R gene CSF1R Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820;Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476 22197934;24336230;23408870;30982609;30982608 False 3 100;0;0 7.24 False ENSG00000182578 ENSG00000182578 HGNC:2433 CTC1 gene CTC1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Coats Plus syndrome;Cerebroretinal microangiopathy with calcifications and cysts, 612199 22387016;22267198 False 3 0;0;0 7.24 False ENSG00000178971 ENSG00000178971 HGNC:26169 CYP27A1 gene CYP27A1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Cerebrotendinous xanthomatosis, 213700 25655951 False 3 0;0;0 7.24 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP2U1 gene CYP2U1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive False 3 0;0;0 7.24 False ENSG00000155016 ENSG00000155016 HGNC:20582 CYP7B1 gene CYP7B1 Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 5A, autosomal recessive , OMIM:270800 19187859;19439420;24117163 False 3 67;33;0 7.24 False ENSG00000172817 ENSG00000172817 HGNC:2652 D2HGDH gene D2HGDH Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal L2-Hydroxyglutaric aciduria 25655951 False 3 0;0;0 7.24 False ENSG00000180902 ENSG00000180902 HGNC:28358 DARS gene DARS Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity False 3 0;0;0 7.24 False ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 25655951 False 3 0;0;0 7.24 False ENSG00000117593 ENSG00000117593 HGNC:25538 DCAF17 gene DCAF17 Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome, OMIM:241080 19026396;20507343;30409855;31726291 False 3 100;0;0 7.24 False ENSG00000115827 ENSG00000115827 HGNC:25784 DDB2 gene DDB2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 False 3 0;0;0 7.24 False ENSG00000134574 ENSG00000134574 HGNC:2718 DEGS1 gene DEGS1 Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 18, OMIM:618404 30620338;30620337;31186544 False 3 100;0;0 7.24 False ENSG00000143753 ENSG00000143753 HGNC:13709 DGUOK gene DGUOK Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Mitochondrial Leukoencephalopathy;Mitochondrial DNA depletion syndrome 3 25655951 False 3 0;0;0 7.24 False ENSG00000114956 ENSG00000114956 HGNC:2858 DPYD gene DPYD Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency;5-fluorouracil toxicity 274270 False 3 0;0;0 7.24 False ENSG00000188641 ENSG00000188641 HGNC:3012 EARS2 gene EARS2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL);Combined oxidative phosphorylation deficiency 12 25655951 False 3 0;0;0 7.24 False ENSG00000103356 ENSG00000103356 HGNC:29419 EIF2B1 gene EIF2B1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal 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) 16807905;25655951;15776425 False 3 0;0;0 7.24 False ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal 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 25655951 False 3 0;0;0 7.24 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Leukoencephalopathy with vanishing white matter 603896;eIF2B related disorder (Vanishing WM Disease or CACH) 11835386;25655951;19158808 False 3 0;0;0 7.24 False ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Ovarioleukodystrophy, 603896;Leukoencephaly with vanishing white matter, 603896 11835386;25089094;25655951;12707859;26043506 False 3 0;0;0 7.24 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896;Ovarioleukodystrophy, 603896;General Leukodystrophy & Mitochondrial Leukoencephalopathy;eIF2B related disorder (Vanishing WM Disease or CACH) 12325082;25655951;11704758 False 3 0;0;0 7.24 False ENSG00000145191 ENSG00000145191 HGNC:3261 ELOVL1 gene ELOVL1 Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527 23689133;29496980;30487246;32123819 False 3 100;0;0 7.24 False ENSG00000066322 ENSG00000066322 HGNC:14418 ENTPD1 gene ENTPD1 Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 64, autosomal recessive, OMIM:615683 35471564 False 3 100;0;0 7.24 False ENSG00000138185 ENSG00000138185 HGNC:3363 EPB41L3 gene EPB41L3 Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Developmental disorder with seizures and myelination defects 39292993 False 3 100;0;0 7.24 False ENSG00000082397 ENSG00000082397 HGNC:3380 EPRS gene EPRS Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 15, MIM# 617951" 29576217;33805425 False 3 100;0;0 7.24 False ENSG00000136628 ENSG00000136628 HGNC:3418 ERCC6 gene ERCC6 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal 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 PMID: 7063265 False 3 0;0;0 7.24 False Other - please provide details in the comments ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal PMID: 26204423;UV-sensitive syndrome;Cockayne syndrome phenotype and UV-sensitive syndrome;Cockayne syndrome, type A;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Cockayne Syndrome 25655951 False 3 0;0;0 7.24 False Other - please provide details in the comments ENSG00000049167 ENSG00000049167 HGNC:3439 ESAM gene ESAM Expert Review;Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 36996813 False 3 100;0;0 7.24 False ENSG00000149564 ENSG00000149564 HGNC:17474 ETFDH gene ETFDH Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Glutaric Acidemia IIC;Mitochondrial Leukoencephalopathy 25655951 False 3 0;0;0 7.24 False ENSG00000171503 ENSG00000171503 HGNC:3483 FA2H gene FA2H Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive OMIM:612319;hereditary spastic paraplegia 35 MONDO:0012866 31837835;30446360;22965561;21592092 False 3 100;0;0 7.24 False ENSG00000103089 ENSG00000103089 HGNC:21197 FAM126A gene FAM126A Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Hypomyelination and Congenital Cataract;Leukodystrophy, hypomyelinating, 5, 610532 25655951 False 3 0;0;0 7.24 False ENSG00000122591 ENSG00000122591 HGNC:24587 FARSA gene FARSA Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013 31355908;33598926 False 3 100;0;0 7.24 False ENSG00000179115 ENSG00000179115 HGNC:3592 FIG4 gene FIG4 Expert list;Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4J, OMIM:611228;Yunis-Varon syndrome, OMIM:216340;leukoencephalopathy, HP:0002352 30740813;29688489 False 3 100;0;0 7.24 False ENSG00000112367 ENSG00000112367 HGNC:16873 FLVCR2 gene FLVCR2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 False 3 0;0;0 7.24 False ENSG00000119686 ENSG00000119686 HGNC:20105 FOLR1 gene FOLR1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068 False 3 0;0;0 7.24 False ENSG00000110195 ENSG00000110195 HGNC:3791 FUCA1 gene FUCA1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Fucosidosis;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 0;0;0 7.24 False ENSG00000179163 ENSG00000179163 HGNC:4006 GALC gene GALC Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 False 3 0;0;0 7.24 False ENSG00000054983 ENSG00000054983 HGNC:4115 GBE1 gene GBE1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Polyglucosan body disease, adult form, OMIM:263570;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 0;0;0 7.24 False ENSG00000114480 ENSG00000114480 HGNC:4180 GFAP gene GFAP Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 0;0;0 7.24 False Other - please provide details in the comments ENSG00000131095 ENSG00000131095 HGNC:4235 GFM1 gene GFM1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Combined oxidative phosphorylation deficiency 1;Mitochondrial Leukoencephalopathy 25655951 False 3 0;0;0 7.24 False ENSG00000168827 ENSG00000168827 HGNC:13780 GJA1 gene GJA1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculodentodigital dysplasia, OMIM:164200;Oculodentodigital dysplasia, autosomal recessive, OMIM:257850 False 3 0;0;0 7.24 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJB1 gene GJB1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 False 3 0;0;0 7.24 False ENSG00000169562 ENSG00000169562 HGNC:4283 GJC2 gene GJC2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 44, autosomal recessive, 613206;Leukodystrophy, hypomyelinating, 2, 608804;Lymphedema, hereditary, IC, 613480 25655951 False 3 0;0;0 7.24 False ENSG00000198835 ENSG00000198835 HGNC:17494 GLB1 gene GLB1 Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type I, OMIM:230500;GM1-gangliosidosis, type II, OMIM:230600 25691190 False 3 100;0;0 7.24 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLRX5 gene GLRX5 Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859 24334290;30770271 False 3 100;0;0 7.24 False ENSG00000182512 ENSG00000182512 HGNC:20134 HEPACAM gene HEPACAM Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926 25655951 False 3 0;0;0 7.24 False ENSG00000165478 ENSG00000165478 HGNC:26361 HIKESHI gene HIKESHI Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 13, OMIM:616881 26545878;28000699 False 3 100;0;0 7.24 False ENSG00000149196 ENSG00000149196 HGNC:26938 HMBS gene HMBS Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, HP:0002352 27558376;34089223;15534187;31153822 False 3 100;0;0 7.24 False ENSG00000256269 ENSG00000256269 HGNC:4982 HPDL gene HPDL Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026;Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 32707086;33188300 False 3 100;0;0 7.24 False ENSG00000186603 ENSG00000186603 HGNC:28242 HSD17B4 gene HSD17B4 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome;General Leukodystrophy & Mitochondrial Leukoencephalopathy;D-bifunctional protein deficiency 25655951 False 3 0;0;0 7.24 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSPD1 gene HSPD1 Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, OMIM:612233 18571143;27405012;32532876;28377887 False 3 100;0;0 7.24 False ENSG00000144381 ENSG00000144381 HGNC:5261 IBA57 gene IBA57 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 28913435;23462291;25971455;27785568;28671726 False 3 0;0;0 7.24 False ENSG00000181873 ENSG00000181873 HGNC:27302 IFIH1 gene IFIH1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aicardi-Goutieres syndrome 7, OMIM:615846 24995871;24686847;25604658 False 3 0;0;0 7.24 False ENSG00000115267 ENSG00000115267 HGNC:18873 ISCA1 gene ISCA1 Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 5, OMIM:617613 28356563;32092383;31016283;30113620;30105122 False 3 100;0;0 7.24 False ENSG00000135070 ENSG00000135070 HGNC:28660 ISCA2 gene ISCA2 Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 4, OMIM:616370 25558065;22323289;25539947;27564080 False 3 100;0;0 7.24 False ENSG00000165898 ENSG00000165898 HGNC:19857 JAM3 gene JAM3 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 False 3 0;0;0 7.24 False ENSG00000166086 ENSG00000166086 HGNC:15532 KIAA1161 gene KIAA1161 Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317 30656188;30649222;30460687;29910000;31951047;33958240;31440850 False 3 100;0;0 7.24 False ENSG00000164976 ENSG00000164976 HGNC:19918 KIF5A gene KIF5A Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonus, intractable, neonatal, OMIM:617235 27463701;27414745 False 3 100;0;0 7.24 False ENSG00000155980 ENSG00000155980 HGNC:6323 L2HGDH gene L2HGDH Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, 236792 25655951 False 3 0;0;0 7.24 False ENSG00000087299 ENSG00000087299 HGNC:20499 LAMB1 gene LAMB1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 5, OMIM:615191;Cystic leukoencephalopathy 23472759;25925986;29888467 False 3 50;50;0 7.24 False ENSG00000091136 ENSG00000091136 HGNC:6486 LIG3 gene LIG3 Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780 33855352 False 3 100;0;0 7.24 False ENSG00000005156 ENSG00000005156 HGNC:6600 LMNB1 gene LMNB1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500 21225301;25655951;21909802 False 3 0;0;0 7.24 False Other - please provide details in the comments ENSG00000113368 ENSG00000113368 HGNC:6637 LYRM7 gene LYRM7 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal 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 27151179;27564080 False 3 0;0;0 7.24 False ENSG00000186687 ENSG00000186687 HGNC:28072 MCOLN1 gene MCOLN1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV False 3 0;0;0 7.24 False ENSG00000090674 ENSG00000090674 HGNC:13356 MEF2C gene MEF2C Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations False 3 0;0;0 7.24 False ENSG00000081189 ENSG00000081189 HGNC:6996 MLC1 gene MLC1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts (MLC);General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 0;0;0 7.24 False ENSG00000100427 ENSG00000100427 HGNC:17082 MTFMT gene MTFMT Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15, OMIM:614947 21907147;24461907;27564080 False 3 0;0;0 7.24 False ENSG00000103707 ENSG00000103707 HGNC:29666 NAA60 gene NAA60 Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786;basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977 38480682 False 3 100;0;0 7.24 False ENSG00000122390 ENSG00000122390 HGNC:25875 NAXD gene NAXD Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321 30576410;33224489;31755961 False 3 100;0;0 7.24 False ENSG00000213995 ENSG00000213995 HGNC:25576 NAXE gene NAXE Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 27616477;27122014;27290639;30022751;31758406;31745726 False 3 100;0;0 7.24 False ENSG00000163382 ENSG00000163382 HGNC:18453 NDUFAF1 gene NDUFAF1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy 21931170;16218961;17557076;25655951;24963768 False 3 0;0;0 7.24 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF3 gene NDUFAF3 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency False 3 0;0;0 7.24 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFS1 gene NDUFS1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 25655951 False 3 0;0;0 7.24 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I disorders;Leigh syndrome associated with mitochondrial complex I deficiency;Mitochondrial Leukoencephalopathy;Leigh syndrome 20819849;11220739;25655951;22036843;23266820 False 3 0;0;0 7.24 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS4 gene NDUFS4 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency;Mitochondrial complex I disorders;Mitochondrial Leukoencephalopathy;MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 25655951 False 3 0;0;0 7.24 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS7 gene NDUFS7 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Genetic leukoencephalopathies: mitochondrial disorders;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Leigh syndrome;Mitochondrial Leukoencephalopathy;Mitochondrial respiratory chain complex I deficiency 25655951 False 3 0;0;0 7.24 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I disorders;Leigh syndrome due to mitochondrial complex I deficiency;Mitochondrial Leukoencephalopathy 25655951 False 3 0;0;0 7.24 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy 26345448;26758110;27344648;25655951 False 3 0;0;0 7.24 False ENSG00000167792 ENSG00000167792 HGNC:7716 NFU1 gene NFU1 Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 22077971;25918518;28470589;29441221;31516295;32747156;32669393 False 3 100;0;0 7.24 False ENSG00000169599 ENSG00000169599 HGNC:16287 NKX6-2 gene NKX6-2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560 False 3 0;0;0 7.24 False ENSG00000148826 ENSG00000148826 HGNC:19321 NOTCH3 gene NOTCH3 Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;leukodystrophy, MONDO:0019046 39191170 False 3 100;0;0 7.24 False ENSG00000074181 ENSG00000074181 HGNC:7883 NUBPL gene NUBPL Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency;Mitochondrial Leukoencephalopathy False 3 0;0;0 7.24 False ENSG00000151413 ENSG00000151413 HGNC:20278 NUP188 gene NUP188 Expert Review Green;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Sandestig-Stefanova syndrome, 618804 32021605;32275884 False 3 100;0;0 7.24 False ENSG00000095319 ENSG00000095319 HGNC:17859 OCLN gene OCLN Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Severe developmental delay with microcephaly;Band-like calcification with simplified gyration and polymicrogyria;Band-like calcification with simplified gyration and polymicrogyria, 251290 24668585;26689621;23793442;20727516 False 3 0;0;0 7.24 False ENSG00000197822 ENSG00000197822 HGNC:8104 PAFAH1B1 gene PAFAH1B1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 1, OMIM:607432;Subcortical laminar heterotopia, OMIM:607432 False 3 0;0;0 7.24 False ENSG00000007168 ENSG00000007168 HGNC:8574 PDGFB gene PDGFB Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fahr syndrome;Basal ganglia calcification, idiopathic, 5, 615483 26129893;25211641;27227165 - c.3G>C variant identified in 5 affected members of a family False 3 0;0;0 7.24 False ENSG00000100311 ENSG00000100311 HGNC:8800 PDGFRB gene PDGFRB Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fahr syndrome;Calcifications in basal ganglia;Basal ganglia calcification idiopathic 4, 615007 23255827 - original family report and sproadic case report;24796542 - an additional case report of a idiopathic basal ganglia calcification patient with the p.R695C mutation, which resulted in partial loss of autophosphorylation;25292412 - functional studies;26599395 - mouse models and functional studies;26129893;34494111 False 3 100;0;0 7.24 False ENSG00000113721 ENSG00000113721 HGNC:8804 PEX1 gene PEX1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome;Peroxisome biogenesis disorder 1A,B;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Peroxisome biogenesis disorder 1A (Zellweger) 25655951 False 3 0;0;0 7.24 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome;ZELLWEGER SYNDROME;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 25655951 False 3 0;0;0 7.24 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome;Peroxisome biogenesis disorder 3A (Zellweger);General Leukodystrophy & Mitochondrial Leukoencephalopathy;Peroxisome biogenesis disorder 3B;Peroxisome biogenesis disorder 3A,B 25655951 False 3 0;0;0 7.24 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome;Peroxisome biogenesis disorder 11A (Zellweger);Peroxisome biogenesis disorder 11B 25655951 False 3 0;0;0 7.24 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX16 gene PEX16 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome;Peroxisome biogenesis disorder 8A, (Zellweger);Peroxisome biogenesis disorder 8B;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 False 3 0;0;0 7.24 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX2 gene PEX2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) 25655951 False 3 0;0;0 7.24 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome 25655951 False 3 0;0;0 7.24 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger) 614882 23245813;10968777;25655951 False 3 0;0;0 7.24 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger) 27290639;26220973 False 3 0;0;0 7.24 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862;Peroxisome biogenesis disorder 4B, OMIM:614863 25655951;29220678 False 3 0;0;0 7.24 False ENSG00000124587 ENSG00000124587 HGNC:8859 PI4KA gene PI4KA Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 25855803;34415322;34415310 False 3 100;0;0 7.24 False ENSG00000241973 ENSG00000241973 HGNC:8983 PLP1 gene PLP1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Spastic paraplegia 2, X-linked 312920 Edit;Pelizaeus-Merzbacher disease 312080 25655951 False 3 0;0;0 7.24 False ENSG00000123560 ENSG00000123560 HGNC:9086 PNPT1 gene PNPT1 Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13, OMIM:614932 28594066;30046113;33199448 False 3 100;0;0 7.24 False ENSG00000138035 ENSG00000138035 HGNC:23166 POLG gene POLG Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE);Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700;Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 False 3 0;0;0 7.24 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 27592148;30157269;21555342;31286721 False 3 0;0;0 7.24 False ENSG00000256525 ENSG00000256525 HGNC:9180 POLR1C gene POLR1C Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 11 False 3 0;0;0 7.24 False ENSG00000171453 ENSG00000171453 HGNC:20194 POLR3A gene POLR3A Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism False 3 0;0;0 7.24 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381 25655951 False 3 0;0;0 7.24 False ENSG00000013503 ENSG00000013503 HGNC:30348 PPFIBP1 gene PPFIBP1 Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 35830857;30214071 False 3 100;0;0 7.24 False ENSG00000110841 ENSG00000110841 HGNC:9249 PSAP gene PSAP Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Combined SAP deficiency 249900 False 3 0;0;0 7.24 False ENSG00000197746 ENSG00000197746 HGNC:9498 PTEN gene PTEN Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1, OMIM:158350 29720545;29152901;30664625;30528446;32664367 False 3 100;0;0 7.24 False ENSG00000171862 ENSG00000171862 HGNC:9588 PYCR2 gene PYCR2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 10 616420 False 3 0;0;0 7.24 False ENSG00000143811 ENSG00000143811 HGNC:30262 RAB11B gene RAB11B Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 29106825 False 3 100;0;0 7.24 False ENSG00000185236 ENSG00000185236 HGNC:9761 RARS gene RARS Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 9, OMIM:616140 31814314;28905880;24777941;30500859 False 3 0;0;0 7.24 False ENSG00000113643 ENSG00000113643 HGNC:9870 RNASEH2A gene RNASEH2A Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4;Aicardi-Goutieres Syndrome;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25604658 False 3 0;0;0 7.24 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:610181 25604658 False 3 0;0;0 7.24 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres Syndrome 3;Aicardi-Goutieres Syndrome;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Aicardi-Goutieres syndrome 3 25604658 False 3 0;0;0 7.24 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, cystic, without megalencephaly False 3 0;0;0 7.24 False ENSG00000026297 ENSG00000026297 HGNC:21686 RNF220 gene RNF220 Expert Review Green;Literature;NHS GMS;Other White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, MONDO:0019046;Abnormal corpus callosum morphology, HP:0001273 33964137;10881263 False 3 100;0;0 7.24 False ENSG00000187147 ENSG00000187147 HGNC:25552 RNU7-1 gene RNU7-1 Expert Review Green;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 9, OMIM:619487;Type I interferonopathy 33230297 False 3 100;0;0 7.24 False ENSG00000238923 ENSG00000238923 HGNC:34033 RPIA gene RPIA Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Ribose 5-phosphate isomerase deficiency, OMIM:608611 14988808;28801340;30088433;31056085;31247379 False 3 100;0;0 7.24 False ENSG00000153574 ENSG00000153574 HGNC:10297 RRM2B gene RRM2B Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 25655951 False 3 0;0;0 7.24 False ENSG00000048392 ENSG00000048392 HGNC:17296 SAMHD1 gene SAMHD1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres Syndrome;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Aicardi-Goutieres syndrome 25604658 False 3 0;0;0 7.24 False ENSG00000101347 ENSG00000101347 HGNC:15925 SCAF4 gene SCAF4 Expert Review Green;Literature White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fliedner-Zweier syndrome, OMIM:620511 32730804 False 3 100;0;0 7.24 False ENSG00000156304 ENSG00000156304 HGNC:19304 SCO1 gene SCO1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 False 3 0;0;0 7.24 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 False 3 0;0;0 7.24 False ENSG00000130489 ENSG00000130489 HGNC:10604 SCP2 gene SCP2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with dystonia and motor neuropathy False 3 0;0;0 7.24 False ENSG00000116171 ENSG00000116171 HGNC:10606 SDHA gene SDHA Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain complex II deficiency, OMIM:252011 22972948;24781757 False 3 100;0;0 7.24 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency 252011 25655951;22995659;19465911 False 3 0;0;0 7.24 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHB gene SDHB Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 26642834 - multiple cases reported;25655951;26925370 - suggests incomplete penetrance;22972948 False 3 0;0;0 7.24 False ENSG00000117118 ENSG00000117118 HGNC:10681 SLC13A3 gene SLC13A3 Expert Review Green;Literature;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384 30635937;34966709;35527102;37290914;38235040;33340416 False 3 100;0;0 7.24 False ENSG00000158296 ENSG00000158296 HGNC:14430 SLC16A2 gene SLC16A2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Allan-Herndon-Dudley syndrome, OMIM:300523;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease;Monocarboxylate transporter 8 deficiency (MCT8) Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_524 False 3 0;0;0 7.24 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC17A5 gene SLC17A5 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_634 False 3 0;0;0 7.24 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC20A2 gene SLC20A2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fahr syndrome;Basal ganglia calcification, idiopathic, 1, 213600;Familial Idiopathic Basal Ganglia Calcification 27245298 - SLC20A2 exon deletions reported in 4 patients with primary brain calcification;26129893;27726124 - Copy number analysis of the WGS data revealed a heterozygous deletion of ~578 kb on chromosome 8. The deletion removes the 5' UTR region, the noncoding exon 1 and the putative promoter region of SLC20A2 as well as the coding regions of six other genes False 3 0;0;0 7.24 False ENSG00000168575 ENSG00000168575 HGNC:10947 SLC25A12 gene SLC25A12 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Hypomyelination, global cerebral False 3 0;0;0 7.24 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A4 gene SLC25A4 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_578;PMID: 27693233 False 3 0;0;0 7.24 False ENSG00000151729 ENSG00000151729 HGNC:10990 SNORD118 gene SNORD118 Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, brain calcifications, and cysts, OMIM:614561 28177126;27571260;33029936 False 3 100;0;0 7.24 False Other - please provide details in the comments ENSG00000200463 ENSG00000200463 HGNC:32952 SOX10 gene SOX10 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown General Leukodystrophy & Mitochondrial Leukoencephalopathy;PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE;peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy 25655951 False 3 0;0;0 7.24 False ENSG00000100146 ENSG00000100146 HGNC:11190 SPART gene SPART Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Troyer syndrome, OMIM:275900 27112432;18413476;26003402;12134148;28875386;15372254;31535723 False 3 100;0;0 7.24 False ENSG00000133104 ENSG00000133104 HGNC:18514 SPG11 gene SPG11 Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paralplegia 11, autosomal recessive, OMIM:604360 14745065;18067136;33581793 False 3 100;0;0 7.24 False ENSG00000104133 ENSG00000104133 HGNC:11226 STN1 gene STN1 Expert Review Green;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341 27432940;32627942 False 3 100;0;0 7.24 False ENSG00000107960 ENSG00000107960 HGNC:26200 SUCLA2 gene SUCLA2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_575 False 3 0;0;0 7.24 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUMF1 gene SUMF1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Multiple sulfatase deficiency Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_628 False 3 0;0;0 7.24 False ENSG00000144455 ENSG00000144455 HGNC:20376 SURF1 gene SURF1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, due to COX IV deficiency;Mitochondrial Leukoencephalopathy;Mitochondrial complex IV disorder Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_560 False 3 0;0;0 7.24 False ENSG00000148290 ENSG00000148290 HGNC:11474 TACO1 gene TACO1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy 27319982 - mouse model with a missense variant causing loss of the translational activator of TACO1 have isolated complex IV deficiency;25655951;20727754 and 19503089 (same patients) False 3 0;0;0 7.24 False ENSG00000136463 ENSG00000136463 HGNC:24316 TMEM106B gene TMEM106B Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 16, OMIM:617964;Leukodystrophy, hypomyelinating, 16, MONDO:0054791 29186371;29444210;30643851;32595021 False 3 100;0;0 7.24 False ENSG00000106460 ENSG00000106460 HGNC:22407 TMEM63A gene TMEM63A Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 19, transient infantile, OMIM:618688 31587869;33597727;33785861 False 3 100;0;0 7.24 False ENSG00000196187 ENSG00000196187 HGNC:29118 TREM2 gene TREM2 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY;Calcifications in basal ganglia;Nasu-Hakola disease;Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) 12080485;15883308 False 3 0;0;0 7.24 False ENSG00000095970 ENSG00000095970 HGNC:17761 TREX1 gene TREX1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 25604658 False 3 0;0;0 7.24 False ENSG00000213689 ENSG00000213689 HGNC:12269 TUBB4A gene TUBB4A Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 6, 612438;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Leukodystrophy, hypomyelinating 6;Dystonia 4, torsion, autosomal dominant, 128101 25655951 False 3 0;0;0 7.24 False ENSG00000104833 ENSG00000104833 HGNC:20774 TUFM gene TUFM Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;Combined oxidative phosphorylation deficiency 4, OMIM:610678 25735936;25655951;17160893;28132884;26741492 False 3 100;0;0 7.24 False ENSG00000178952 ENSG00000178952 HGNC:12420 TWNK gene TWNK Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Mitochondrial Leukoencephalopathy 25655951 False 3 0;0;0 7.24 False ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;Mitochondrial DNA depletion syndrome 1 (MNGIE type) 25655951 False 3 0;0;0 7.24 False ENSG00000025708 ENSG00000025708 HGNC:3148 UFM1 gene UFM1 Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 14, OMIM:617899 28931644;29868776 False 3 100;0;0 7.24 False ENSG00000120686 ENSG00000120686 HGNC:20597 USP18 gene USP18 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2, 617397 12833411;27325888;31940699 False 3 100;0;0 7.24 False ENSG00000184979 ENSG00000184979 HGNC:12616 VPS11 gene VPS11 Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 12, OMIM:616683 26307567;27120463;27473128 False 3 100;0;0 7.24 False ENSG00000160695 ENSG00000160695 HGNC:14583 WARS2 gene WARS2 Expert list;Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, OMIM:617710 31282308;28650581;30920170 False 3 100;0;0 7.24 False ENSG00000116874 ENSG00000116874 HGNC:12730 XPA gene XPA Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A, 278700 27603812;27413738;26302748;26743599 False 3 0;0;0 7.24 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group C, 278720 27413738 False 3 0;0;0 7.24 False ENSG00000154767 ENSG00000154767 HGNC:12816 XPR1 gene XPR1 Expert Review Green White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 6, 616413;Basal ganglia calcification (Fahr syndrome) 27230854 - report of a novel variant in a 41-year old man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction;25938945 False 3 0;0;0 7.24 False ENSG00000143324 ENSG00000143324 HGNC:12827 ZFYVE26 gene ZFYVE26 Expert Review Green;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive, OMIM:270700 19084844 False 3 100;0;0 7.24 False ENSG00000072121 ENSG00000072121 HGNC:20761 ABI2 gene ABI2 Expert list;Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 40475134 False 2 100;0;0 7.24 False ENSG00000138443 ENSG00000138443 HGNC:24011 ATPAF2 gene ATPAF2 Expert Review Amber White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V disorders;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Mitochondrial Leukoencephalopathy 25655951;14757859;21815885 (no variants identified) False 2 0;0;0 7.24 False ENSG00000171953 ENSG00000171953 HGNC:18802 CCT3 gene CCT3 Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034;neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125 39480921 False 2 100;0;0 7.24 False ENSG00000163468 ENSG00000163468 HGNC:1616 CNP gene CNP Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal ?Leukodystrophy, hypomyelinating, 20, OMIM:619071 32128616;12590258 False 2 0;100;0 7.24 False ENSG00000173786 ENSG00000173786 HGNC:2158 COQ9 gene COQ9 Expert Review Amber White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Mitochondrial Leukoencephalopathy 25655951;19375058 False 2 0;0;0 7.24 False ENSG00000088682 ENSG00000088682 HGNC:25302 ERCC1 gene ERCC1 Expert Review Amber;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 4, OMIM:610758 17273966 - ERCC1 deficiency in a patient with cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure;23623389 - homozygous missense variant reported in a patient with Cockayne syndrome;21612988;33315086 False 2 0;67;33 7.24 False ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert Review Amber;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 1, photosensitive, OMIM:601675 29451896;9758621;11443545;33733458 False 2 0;100;0 7.24 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC4 gene ERCC4 Expert Review Amber;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, type F/Cockayne syndrome, OMIM:278760;XFE progeroid syndrome, OMIM:610965 23623389;29105242 False 2 0;67;33 7.24 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Review Amber;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 3 OMIM:616570;Xeroderma pigmentosum, group G/Cockayne syndrome OMIM:278780 8818951;9096355;24700531;11228268;8317483 False 2 0;67;33 7.24 False ENSG00000134899 ENSG00000134899 HGNC:3437 GTF2H5 gene GTF2H5 Expert Review Amber;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal delayed myelination 24986372;15220921;30359777 False 2 0;67;33 7.24 False ENSG00000272047 ENSG00000272047 HGNC:21157 JAM2 gene JAM2 Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 8, autosomal recessive, OMIM:618824;basal ganglia calcification, idiopathic, 8, autosomal recessive, MONDO:0032938 31851307;32142645 False 2 100;0;0 7.24 False ENSG00000154721 ENSG00000154721 HGNC:14686 LSM7 gene LSM7 Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, MONDO:0019046 35047835;39420558 False 2 0;0;100 7.24 False ENSG00000130332 ENSG00000130332 HGNC:20470 MAL gene MAL Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal developmental delay;nystagmus;progressive motor deterioration;dysmyelination 35217805 False 2 0;100;0 7.24 False ENSG00000172005 ENSG00000172005 HGNC:6817 MRE11 gene MRE11 Expert Review Amber White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome-like severe microcephaly 21227757 False 2 0;0;0 7.24 False ENSG00000020922 ENSG00000020922 HGNC:7230 MRPS16 gene MRPS16 Expert Review Amber White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Combined oxidative phosphorylation deficiency 2;Mitochondrial Leukoencephalopathy 18539099;15505824;25655951 False 2 0;0;0 7.24 False ENSG00000182180 ENSG00000182180 HGNC:14048 NDUFV2 gene NDUFV2 Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229;Progressive cavitating leukoencephalopathy, MONDO:0015349 33811136 False 2 0;100;0 7.24 False ENSG00000178127 ENSG00000178127 HGNC:7717 PEX14 gene PEX14 Expert Review Amber White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome;PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 15146459 False 2 0;0;0 7.24 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX19 gene PEX19 Expert Review Amber White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger) False 2 0;0;0 7.24 False ENSG00000162735 ENSG00000162735 HGNC:9713 POLR3K gene POLR3K Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 21, OMIM:619310 30584594;33659930 False 2 0;100;0 7.24 False ENSG00000161980 ENSG00000161980 HGNC:14121 PTPN1 gene PTPN1 Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalopathy, HP:0001298;dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215 10066179;39986310 False 2 100;0;0 7.24 False ENSG00000196396 ENSG00000196396 HGNC:9642 SLC35B2 gene SLC35B2 Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Abnormality of the skeletal system;Short long bone;Short stature;Abnormality of epiphysis morphology;Scoliosis;Multiple joint dislocation;Global develpmental delay;Intellectual disability;CNS hypomyelination;Abnormality of the corpus callosum;Cerebral atrophy;Abnormality of the amniotic fluid 35325049 False 2 0;100;0 7.24 False ENSG00000157593 ENSG00000157593 HGNC:16872 ADGRG1 gene ADGRG1 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown Cerebral Malformation Disorders False 1 0;0;0 7.24 False ENSG00000205336 ENSG00000205336 HGNC:4512 ARX gene ARX Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 300215;Cerebral Malformation Disorders;Lissencephaly, X-linked 2 False 1 0;0;0 7.24 False ENSG00000004848 ENSG00000004848 HGNC:18060 ATP7A gene ATP7A Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease, MIM#309400 28495946;28495940 False 1 0;0;0 7.24 False ENSG00000165240 ENSG00000165240 HGNC:869 DCX gene DCX Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Lissencephaly, X-linked, OMIM:300067;Subcortical laminal heterotopia, X-linked, OMIM:300067 False 1 0;0;0 7.24 False ENSG00000077279 ENSG00000077279 HGNC:2714 DDB1 gene DDB1 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown False 1 0;0;0 7.24 False ENSG00000167986 ENSG00000167986 HGNC:2717 EGR2 gene EGR2 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown Neuropathy, congenital hypomyelinating, 1, 605253;Charcot-Marie-Tooth disease,type 1D,607678;Dejerine-Sottas disease,145900 False 1 0;0;0 7.24 False ENSG00000122877 ENSG00000122877 HGNC:3239 ERCC3 gene ERCC3 Expert Review Red;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 2, photosensitive, OMIM:616390;Xeroderma pigmentosum, group B, OMIM:610651 9012405;2167179;16947863;8408834;8304337 False 1 0;0;100 7.24 False ENSG00000163161 ENSG00000163161 HGNC:3435 GTF2E2 gene GTF2E2 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 26996949 False 1 0;0;0 7.24 False ENSG00000197265 ENSG00000197265 HGNC:4651 HEXA gene HEXA Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal MIM#272800 False 1 0;0;0 7.24 False ENSG00000213614 ENSG00000213614 HGNC:4878 HTRA1 gene HTRA1 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY False 1 0;0;0 7.24 False ENSG00000166033 ENSG00000166033 HGNC:9476 MAT1A gene MAT1A Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown Calcifications in basal ganglia;Methionine adenosyltransferase deficiency, autosomal recessive 8770875 False 1 0;0;0 7.24 False ENSG00000151224 ENSG00000151224 HGNC:6903 MFF gene MFF Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 False 1 0;0;0 7.24 False ENSG00000168958 ENSG00000168958 HGNC:24858 MPLKIP gene MPLKIP Expert Review Red;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 4, nonphotosensitive, OMIM:234050 25655951;25290684;26518168;25606444;26880286;29421601;30580289;30598092;16977596;33043633;33729667 False 1 0;0;100 7.24 False ENSG00000168303 ENSG00000168303 HGNC:16002 MPZ gene MPZ Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neuropathy,congenital hypomyelinating,605253;Congenital Hypomyelination False 1 0;0;0 7.24 False ENSG00000158887 ENSG00000158887 HGNC:7225 NDE1 gene NDE1 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 4 (with microcephaly), 614019;Lissencephaly, Recessive;Cerebral Malformation Disorders False 1 0;0;0 7.24 False ENSG00000072864 ENSG00000072864 HGNC:17619 NDUFA2 gene NDUFA2 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial leukoencephalopathy 28857146 False 1 0;0;0 7.24 False ENSG00000131495 ENSG00000131495 HGNC:7685 OCRL gene OCRL Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome, MIM#309000 False 1 0;0;0 7.24 False ENSG00000122126 ENSG00000122126 HGNC:8108 PCDH12 gene PCDH12 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal microcephaly;intellectual disability;perithalamic hyperechogenicity;hypothalamic abnormalities;periventricular hyperechogenicity;epilepsy;midbrain abnormalities 27164683 False 1 0;0;0 7.24 False ENSG00000113555 ENSG00000113555 HGNC:8657 PHGDH gene PHGDH Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Phosphoglycerate dehydrogenase deficiency, MIM#601815 False 1 0;0;0 7.24 False ENSG00000092621 ENSG00000092621 HGNC:8923 PMP22 gene PMP22 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown Neuropathy,inflammatory demyelinating,139393 False 1 0;0;0 7.24 False ENSG00000109099 ENSG00000109099 HGNC:9118 POLH gene POLH Expert Review Red;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, variant type, OMIM:278750 23755135;23651273;24260050;27004399;25256075;27664908;24877075;24130121;25128761 False 1 0;0;100 7.24 False ENSG00000170734 ENSG00000170734 HGNC:9181 POLR1A gene POLR1A Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal 28051070 False 1 0;0;0 7.24 False ENSG00000068654 ENSG00000068654 HGNC:17264 PPT1 gene PPT1 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1, MIM#256730 False 1 0;0;0 7.24 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRF1 gene PRF1 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal 23443029 False 1 0;0;0 7.24 False ENSG00000180644 ENSG00000180644 HGNC:9360 RELN gene RELN Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly, Recessive;Lissencephaly 2;Lissencephaly 2 (Norman-Roberts type), 257320 False 1 0;0;0 7.24 False ENSG00000189056 ENSG00000189056 HGNC:9957 RNF113A gene RNF113A Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 25612912 False 1 0;0;0 7.24 False ENSG00000125352 ENSG00000125352 HGNC:12974 SCN2A gene SCN2A Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 11;Seizures, benign familial infantile, 3 PMID:24579881 False 1 0;0;0 7.24 False ENSG00000136531 ENSG00000136531 HGNC:10588 SDHD gene SDHD Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency False 1 0;0;0 7.24 False ENSG00000204370 ENSG00000204370 HGNC:10683 SLC13A5 gene SLC13A5 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905 27913086 False 1 0;0;0 7.24 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC25A1 gene SLC25A1 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Global Cerebral Hypomyelination False 1 0;0;0 7.24 False ENSG00000100075 ENSG00000100075 HGNC:10979 SPG7 gene SPG7 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 9635427;16534102;17646629;18200586, 20186691;22571692 False 1 0;0;0 7.24 False ENSG00000197912 ENSG00000197912 HGNC:11237 TUBA1A gene TUBA1A Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 3;Lissencephaly, Dominant;Cerebral Malformation Disorders;Lissencephaly 3, 611603 False 1 0;0;0 7.24 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBA8 gene TUBA8 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown Cerebral Malformation Disorders False 1 0;0;0 7.24 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB2B gene TUBB2B Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown Cerebral Malformation Disorders False 1 0;0;0 7.24 False ENSG00000137285 ENSG00000137285 HGNC:30829 TYROBP gene TYROBP Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Nasu-Hakola disease, MIM#221770 False 1 0;0;0 7.24 False ENSG00000011600 ENSG00000011600 HGNC:12449 UNC13D gene UNC13D Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal 29312353 False 1 0;0;0 7.24 False ENSG00000092929 ENSG00000092929 HGNC:23147