Leukodystrophy, Hypomyelinating, 6; Hld6

Description

Hypomyelinating leukodystrophy-6, also known as hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum, is a neurologic disorder characterized by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic tetraplegia, ataxia, and, more rarely, seizures. Most patients have cognitive decline and speech delay, but some can function normally. Brain MRI shows a combination of hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen. The disorder usually shows sporadic occurrence, but sibs may be affected if a parent is somatic mosaic for the mutation (summary by Simons et al., 2013).Hypomyelinating leukodystrophies (HLD) comprise a genetically heterogeneous entity in which there is a substantial permanent deficit in myelin deposition within the brain, resulting in neurologic deficits (van der Knaap et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Clinical Features

Top most frequent phenotypes and symptoms related to Leukodystrophy, Hypomyelinating, 6; Hld6

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Motor delay
And another 43 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Leukodystrophy, Hypomyelinating, 6; Hld6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
UFM1.

By Fulgent Genetics Fulgent Genetics in United States.

UFM1
Specificity
100 %
Genes
50 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

C12orf65, TUBB3, HSPD1, OPA3, MECP2, ALDH18A1, REEP1, SPG7, ABCD1, ACOX1, FARS2, GJC2, PLP1, SLC2A1, SACS, PLA2G6, ATL1, ZFYVE26, SPG11, SPAST , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
50 %
Cerebral Cortical Malformation Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Cerebral Cortical Malformations Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
50 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
50 %
TUBB4A.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TUBB4A
Specificity
100 %
Genes
50 %
HYPOMYELINATING LEUKODYSTROPHY 6 (HLD6).

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

TUBB4A
Specificity
100 %
Genes
50 %
Torsion dystonia 4 (DYT4, sequence analysis of TUBB4A gene).

By CGC Genetics in Portugal.

TUBB4A
Specificity
100 %
Genes
50 %
Leukodystrophy hypomyelinating (NGS panel for 3 genes).

By CGC Genetics in Portugal.

TUBB4A, POLR3A, POLR3B
Specificity
34 %
Genes
50 %
Dystonia (NGS panel for 43 genes).

By CGC Genetics in Portugal.

ATP7B, AUH, PANK2, SMPD1, MECP2, SPR, TIMM8A, HEXA, GCDH, PRKN, PNKD, ARSA, NPC1, NPC2, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Dystonia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SPR, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, ATP1A3, PRRT2, TAF1, TUBB4A, PRKRA, ANO3, GNAL
Specificity
7 %
Genes
50 %
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, PNPLA6 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
50 %
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, HSPD1, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, FARS2, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
50 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
50 %
Epilepsy and Hypomyelination.

By MGZ Medical Genetics Center in Germany.

PLP1, EIF2B3, FOLR1, SPTAN1, TUBB4A, POLR3A, POLR3B, FAM126A
Specificity
13 %
Genes
50 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
50 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
50 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
50 %
Basal ganglia and cerebellar atrophy with hypomethylation (DYT4).

By Centogene AG - the Rare Disease Company in Germany.

TUBB4A
Specificity
100 %
Genes
50 %
DYT4.

By Centogene AG - the Rare Disease Company in Germany.

TUBB4A
Specificity
100 %
Genes
50 %
Basal ganglia and cerebellar atrophy with hypomethylation (DYT4).

By Centogene AG - the Rare Disease Company in Germany.

TUBB4A
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
Leukodystrophy / Leukencephalopathy Panel.

By CeGaT GmbH in Germany.

PSAP, HSPD1, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1, SAMHD1, RNASEH2A , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Leukodystrophy and Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

PSAP, HSPD1, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1, SAMHD1, RNASEH2A , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
50 %
Primary Torsion Dystonia Panel.

By CeGaT GmbH in Germany.

ATM, TOR1A, THAP1, COL6A3, TUBB4A, ANO3, HPCA, GNAL, CIZ1
Specificity
12 %
Genes
50 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
50 %
Dystonia Plus Syndrome Panel.

By CeGaT GmbH in Germany.

SPR, TH, GCH1, SGCE, ATP1A3, RELN, TAF1, KIF1C, TUBB4A, FTL, PRKRA, COX20, BCAP31, SLC30A10
Specificity
8 %
Genes
50 %
Dystonia All Panel.

By CeGaT GmbH in Germany.

ATP7A, ATP7B, AUH, PANK2, MECP2, SPR, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, PNKD, ARSA, ARX, NPC1, NPC2, SLC2A1, ATM , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Single gene testing TUBB4A.

By CeGaT GmbH in Germany.

TUBB4A
Specificity
100 %
Genes
50 %
Leukodystrophy / Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

AARS2, TYROBP, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, ALDH3A2, ACOX1, GALC, L2HGDH, GBE1, GCDH, CYP27A1, ARSA, ASPA, EIF2B1, GJC2, PLP1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
50 %
Spinocerebellar Ataxia.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, TWNK, PRKCG, WFS1, ELOVL4, AFG3L2, ACO2, COQ8A, DARS2, POLG2, FLVCR1, ABCB7, SLC9A6, PHYH, FXN, CYP27A1, APTX, TPP1, WWOX, NPC1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %
Dystonia.

By Asper Biogene Asper Biogene LLC in Estonia.

ATP7B, PANK2, SPR, TIMM8A, GCDH, PRKN, PNKD, ARSA, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
50 %
Leukodystrophy and Leukoencephalopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

PSAP, HSPD1, SCP2, DARS2, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Invitae Dystonia Comprehensive Panel.

By Invitae in United States.

SPR, PRKN, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, ATP1A3, PRRT2, TUBB4A, SLC6A3, PRKRA, ANO3, GNAL
Specificity
7 %
Genes
50 %
TUBB4A - Gene sequencing.

By Genome Diagnostics VU University Medical Center in Netherlands.

TUBB4A
Specificity
100 %
Genes
50 %
TUBB4A.

By Fulgent Genetics Fulgent Genetics in United States.

TUBB4A
Specificity
100 %
Genes
50 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
50 %
Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics in Finland.

PSAP, HSPD1, FOXRED1, NFU1, TTC19, NUBPL, DARS2, GFM1, D2HGDH, AIFM1, ABCD1, ALDH3A2, COX15, SDHAF1, NDUFAF5, HIBCH, GALC, L2HGDH, COX6B1, CYP27A1 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
50 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
50 %
PRIMARY DYSTONIA TYPE DYT4.

By Laboratorio de Genetica Clinica SL in Spain.

TUBB4A
Specificity
100 %
Genes
50 %
Torsion Dystonia DYT4 , Sequencing TUBB4A Gene.

By Reference Laboratory Genetics in Spain.

TUBB4A
Specificity
100 %
Genes
50 %
TUBB4A-Related Leukodystrophy: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TUBB4A
Specificity
100 %
Genes
50 %

Alternate names

Leukodystrophy, Hypomyelinating, 6; Hld6 Is also known as leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum;habc;h-abc.



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