Heimler Syndrome 1; Hmlr1

Description

Heimler syndrome-1 (HMLR1), which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, {214100}), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015). Genetic Heterogeneity of Heimler SyndromeAnother form of Heimler syndrome (HMLR2 ) is caused by mutation in the PEX6 gene (OMIM ) on chromosome 6p21.

Clinical Features

Top most frequent phenotypes and symptoms related to Heimler Syndrome 1; Hmlr1

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Abnormality of the dentition
  • Arrhythmia
  • Delayed skeletal maturation
  • Hyporeflexia
  • Diabetes mellitus
And another 29 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.


Mendelian

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Heimler Syndrome 1; Hmlr1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 151 more genes
Specificity
2 %
Genes
100 %
Non-immune Hydrops Panel.

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

COL2A1, GNPTAB, GLB1, HADHA, RAF1, SMPD1, RPL35A, HADHB, ALG9, ALG1, CTSA, GUSB, GALNS, GBE1, PMM2, FGFR3, GBA, BRAF, DHCR7, GLA , (...)

View the complete list with 67 more genes
Specificity
3 %
Genes
100 %
NGS Peroxisome Biogenesis Disorders Panel.

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

PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5
Specificity
17 %
Genes
100 %
Lysosomal Storage Disease Panel.

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

GAA, COL2A1, PSAP, GNPTAB, GLB1, GNE, SMPD1, CTSD, HEXA, GM2A, HEXB, PHYH, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH , (...)

View the complete list with 55 more genes
Specificity
3 %
Genes
100 %
Zellweger Spectrum Disorder NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

DNM1L, PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5
Specificity
16 %
Genes
100 %
Zelweger Spectrum Disorder and Beta-Oxidation Defect NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

HSD17B4, DNM1L, SCP2, ACOX1, PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5
Specificity
13 %
Genes
100 %
Peroxisomal Disorders Comprehensive NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

AMACR, HSD17B4, DNM1L, CAT, SCP2, AGPS, PHYH, ACOX1, AGXT, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10 , (...)

View the complete list with 4 more genes
Specificity
9 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)

View the complete list with 132 more genes
Specificity
2 %
Genes
100 %
Peroxisomal disorders.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

AMACR, HSD17B4, DNM1L, AGPS, ABCD1, ACOX1, AGXT, PEX2, PEX7, PEX1, PEX6, PEX3, PEX10, PEX5, GNPAT, PEX11B
Specificity
13 %
Genes
100 %
Peroxisomal disorders targetted panel.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

PEX1, PEX6, PEX26, PEX10, PEX12
Specificity
40 %
Genes
100 %
PEX6. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PEX6
Specificity
100 %
Genes
50 %
PEX6. Sequencing of the exon 1.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PEX6
Specificity
100 %
Genes
50 %
Zellweger syndrome (sequence analysis of PEX6 gene).

By CGC Genetics in Portugal.

PEX6
Specificity
100 %
Genes
50 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
2 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
2 %
Genes
100 %
Zellweger Syndrome Spectrum.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center in Netherlands.

PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PEX11B
Specificity
16 %
Genes
100 %
Peroxisomal Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HSD17B4, DNM1L, AGPS, ABCD1, PHYH, ACOX1, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, GNPAT , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX6 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PEX6
Specificity
100 %
Genes
50 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GNPTAB, GLB1, RAF1, CTSA, GUSB, GALNS, GBA, BRAF, DHCR7, HRAS, IDUA, KRAS, LIPA, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2 , (...)

View the complete list with 20 more genes
Specificity
5 %
Genes
100 %
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
2 %
Genes
100 %
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
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17 , (...)

View the complete list with 49 more genes
Specificity
3 %
Genes
100 %
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
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Zellweger syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5
Specificity
17 %
Genes
100 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX6
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
100 %
Usher Syndrome Panel.

By CeGaT GmbH in Germany.

ABHD12, USH1G, USH1C, PDZD7, ADGRV1, CLRN1, USH2A, PCDH15, WHRN, CDH23, HARS, MYO7A, PEX1, CIB2, PEX6
Specificity
14 %
Genes
100 %
Peroxisomal Disorder Panel.

By CeGaT GmbH in Germany.

AMACR, ABCD1, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PEX11B
Specificity
13 %
Genes
100 %
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
2 %
Genes
100 %
Peroxisomal Disorders Panel.

By CeGaT GmbH in Germany.

AMACR, ABCD1, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PEX11B
Specificity
13 %
Genes
100 %
Single gene testing PEX6.

By CeGaT GmbH in Germany.

PEX6
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
3 %
Genes
100 %
Zellweger Spectrum Disorders.

By Asper Biogene Asper Biogene LLC in Estonia.

PHYH, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5
Specificity
15 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Invitae Zellweger Spectrum Disorder Panel.

By Invitae in United States.

AMACR, HSD17B4, ACOX1, PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5
Specificity
14 %
Genes
100 %
Leukodistrophy.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2 , (...)

View the complete list with 38 more genes
Specificity
4 %
Genes
100 %
Peroxisomal disorders.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ABHD12, HSD17B4, DNM1L, SCP2, AGPS, ABCD1, PHYH, ACOX1, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12 , (...)

View the complete list with 4 more genes
Specificity
9 %
Genes
100 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX6-Related: PEX6 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX6
Specificity
100 %
Genes
50 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX6-Related: PEX6 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX6
Specificity
100 %
Genes
50 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PEX11B
Specificity
15 %
Genes
100 %
Neonatal and Adult Cholestasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCB11, ABCB4, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, SLC25A13, SMPD1, DGUOK, FAH, MPV17, CYP27A1, MKS1, CFTR , (...)

View the complete list with 37 more genes
Specificity
4 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
2 %
Genes
100 %
Zellweger syndrome spectrum, PEX6-related.

By Integrated Genetics Westborough Integrated Genetics in United States.

PEX6
Specificity
100 %
Genes
50 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GCSH, GLDC, AMT, LMBRD1, HEXA, GM2A , (...)

View the complete list with 86 more genes
Specificity
2 %
Genes
100 %
Neuromuscular NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TRIM32, PMM2, DMD, FKTN, NEB, PEX2, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5 , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
100 %
Peroxisomal NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HSD17B4, DNM1L, AGPS, ABCD1, PHYH, ACOX1, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PEX11B , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
100 %
Zellweger Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PEX11B
Specificity
16 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
PEX6.

By Fulgent Genetics Fulgent Genetics in United States.

PEX6
Specificity
100 %
Genes
50 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
2 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
100 %
Lysosomal Disorders and Mucopolysaccharidosis Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GLDC, AMT, HEXA, GM2A, SUOX, ALDH5A1 , (...)

View the complete list with 82 more genes
Specificity
2 %
Genes
100 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 66 more genes
Specificity
3 %
Genes
100 %
Cholestasis Panel.

By Blueprint Genetics in Finland.

EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1 , (...)

View the complete list with 26 more genes
Specificity
5 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Peroxisomal Disorders Panel.

By Blueprint Genetics in Finland.

AMACR, HSD17B4, AGPS, ABCD1, PHYH, ACOX1, AGXT, SUGCT, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
100 %
Peroxisome biogenesis disorder 4A.

By Bioarray in Spain.

PEX6
Specificity
100 %
Genes
50 %
Peroxisome biogenesis disorder 4B.

By Bioarray in Spain.

PEX6
Specificity
100 %
Genes
50 %
Zellweger syndrome.

By Bioarray in Spain.

PEX6
Specificity
100 %
Genes
50 %
Zellweger syndrome.

By Bioarray in Spain.

PEX6
Specificity
100 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
ZELLWEGER SYNDROME – NGS –PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX5
Specificity
19 %
Genes
100 %
ZELLWEGER SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

PEX2, PEX1, PEX6, PEX26, PEX12
Specificity
40 %
Genes
100 %
Zellweger Syndrome Type 4A , Sequencing PEX6 Gene.

By Reference Laboratory Genetics in Spain.

PEX6
Specificity
100 %
Genes
50 %
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes.

By Reference Laboratory Genetics in Spain.

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2, PEX7 , (...)

View the complete list with 36 more genes
Specificity
4 %
Genes
100 %
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes.

By Reference Laboratory Genetics in Spain.

GAA, AMACR, HSD17B4, PSAP, GNPTAB, GLB1, SMPD1, DNM1L, CAT, SCP2, CTSD, AGPS, LMBRD1, HEXA, GM2A, HEXB, PHYH, CTSK, ACOX1, AGXT , (...)

View the complete list with 58 more genes
Specificity
3 %
Genes
100 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...)

View the complete list with 91 more genes
Specificity
2 %
Genes
100 %
Zellweger Syndrome , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PEX11B
Specificity
15 %
Genes
100 %
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes.

By Reference Laboratory Genetics in Spain.

ALDOB, FBP1, PC, HSD17B4, PSAP, GNPTAB, GLB1, GNE, DLD, SMPD1, PDHB, PCK2, SCP2, CTSD, PDP1, GRN, AGPS, PDHA1, ABCD1, HEXA , (...)

View the complete list with 62 more genes
Specificity
3 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
50 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
50 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, HNF1B, PITX2, MKKS, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, SOX2, FGFR3, AR, ARX, CREBBP, DHCR7, PTPN11, FGFR2, CDKN1C, GPC3, HBA1 , (...)

View the complete list with 41 more genes
Specificity
2 %
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 %
PEX1. Sequencing of the exons 13, 15, 18 and 19.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PEX1
Specificity
100 %
Genes
50 %
PEX1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PEX1
Specificity
100 %
Genes
50 %
Zellweger syndrome (sequence analysis of PEX1 gene).

By CGC Genetics in Portugal.

PEX1
Specificity
100 %
Genes
50 %
Zellweger syndrome (deletion/duplication analysis of PEX1 gene).

By CGC Genetics in Portugal.

PEX1
Specificity
100 %
Genes
50 %
Zellweger syndrome (deletion/duplication analysis of PEX1 gene).

By CGC Genetics in Portugal.

PEX1
Specificity
100 %
Genes
50 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PEX1
Specificity
100 %
Genes
50 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
50 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
50 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX1
Specificity
100 %
Genes
50 %
Refsum disease panel.

By Centogene AG - the Rare Disease Company in Germany.

PHYH, PEX2, PEX7, PEX1, PEX26
Specificity
20 %
Genes
50 %
Refsum Disease Panel.

By CeGaT GmbH in Germany.

PHYH, PEX2, PEX7, PEX1, PEX3, PEX26, PEX5
Specificity
15 %
Genes
50 %
Single gene testing PEX1.

By CeGaT GmbH in Germany.

PEX1
Specificity
100 %
Genes
50 %
PEX1 - Zellweger Syndorme spectrum.

By Centre for Inherited Metabolic Diseases Karolinska University Hospital in Sweden.

PEX1
Specificity
100 %
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 %
Zellweger syndrome, PEX1 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

PEX1
Specificity
100 %
Genes
50 %
Peroxisome biogenesis disorder 1A (Zellweger).

By Praxis fuer Humangenetik Wien in Austria.

PEX1
Specificity
100 %
Genes
50 %
Peroxisome biogenesis disorder 1B.

By Praxis fuer Humangenetik Wien in Austria.

PEX1
Specificity
100 %
Genes
50 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
50 %
Peroxisome biogenesis disorder 1B.

By MedGene in Slovakia.

PEX1
Specificity
100 %
Genes
50 %
Peroxisome biogenesis disorder 1A (Zellweger).

By MedGene in Slovakia.

PEX1
Specificity
100 %
Genes
50 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX1-Related: PEX1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX1
Specificity
100 %
Genes
50 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX1-Related: PEX1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX1
Specificity
100 %
Genes
50 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
50 %
Zellweger Syndrome Spectrum, PEX1-Related, includes Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, and Zellweger Syndrome (PEX1).

By Integrated Genetics Westborough Integrated Genetics in United States.

PEX1
Specificity
100 %
Genes
50 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...)

View the complete list with 118 more genes
Specificity
1 %
Genes
50 %
Retinitis Pigmentosa NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, RP1, WFS1, ABCA4, CACNA1F, ARL6, NPHP3, NPHP1, MKKS, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
50 %
PEX1.

By Fulgent Genetics Fulgent Genetics in United States.

PEX1
Specificity
100 %
Genes
50 %
Usher Syndrome Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, PDZD7, ADGRV1, CLRN1, USH2A, PCDH15, WHRN, CDH23, HARS, MYO7A, PEX1, CIB2, CEP78
Specificity
7 %
Genes
50 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
50 %
Zellweger syndrome.

By Bioarray in Spain.

PEX1
Specificity
100 %
Genes
50 %
Zellweger Syndrome Type 1A , Sequencing PEX1 Gene.

By Reference Laboratory Genetics in Spain.

PEX1
Specificity
100 %
Genes
50 %
Refsum Disease , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

PHYH, PEX2, PEX1, PEX26
Specificity
25 %
Genes
50 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
50 %

Alternate names

Heimler Syndrome 1; Hmlr1 Is also known as hearing loss, sensorineural, with enamel hypoplasia and nail defects, peroxisome biogenesis disorder 1c;pbd1c;heimler syndrome.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42 NAXOS DISEASE; NXD EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1 CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED; CILD36 BARDET-BIEDL SYNDROME 1; BBS1

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