Osteopetrosis, Autosomal Recessive 6; Optb6

Clinical Features

Phenotypes and symptoms related to Osteopetrosis, Autosomal Recessive 6; Optb6

  • Osteopetrosis
  • Erlenmeyer flask deformity of the femurs
  • Dense metaphyseal bands

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Osteopetrosis, Autosomal Recessive 6; Optb6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Osteopetrosis, autosomal recessive 6 (sequence analysis of PLEKHM1 gene).

By CGC Genetics in Portugal.

PLEKHM1
Specificity
100 %
Genes
34 %
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
11 %
Genes
100 %
Osteopetrosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

LRP5, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, FERMT3, PLEKHM1, SNX10
Specificity
22 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
11 %
Genes
100 %
Osteopetrosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

LRP5, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, FERMT3, PLEKHM1, SNX10
Specificity
22 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
11 %
Genes
100 %
Osteopetrosis NGS panel.

By Connective Tissue Gene Tests in United States.

LRP5, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, FERMT3, PLEKHM1, SNX10
Specificity
22 %
Genes
100 %
Osteopetrosis, autosomal recessive 6 NGS Test.

By Connective Tissue Gene Tests in United States.

PLEKHM1
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal recessive 6 Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

PLEKHM1
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal recessive 6 Comprehensive Test.

By Connective Tissue Gene Tests in United States.

PLEKHM1
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal recessive 6 Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

PLEKHM1
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal recessive 6 NGS test.

By Connective Tissue Gene Tests in United States.

PLEKHM1
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal recessive 6 Comprehensive test.

By Connective Tissue Gene Tests in United States.

PLEKHM1
Specificity
100 %
Genes
34 %
Osteopetrosis autosomal recessive type 6.

By Centogene AG - the Rare Disease Company in Germany.

PLEKHM1
Specificity
100 %
Genes
34 %
Skeletal dysplasia with increased bone density Panel.

By CeGaT GmbH in Germany.

ANKH, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, DHCR24, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
11 %
Genes
100 %
OSTEOPETROSIS.

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

LRP5, TNFRSF11A, CLCN7, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
38 %
Genes
100 %
PLEKHM1.

By Fulgent Genetics Fulgent Genetics in United States.

PLEKHM1
Specificity
100 %
Genes
34 %
Osteopetrosis NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

LRP5, TNFRSF11A, CLCN7, CA2, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
34 %
Genes
100 %
PLEKHM1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PLEKHM1
Specificity
100 %
Genes
34 %
OSTEOPETROSIS, AUTOSOMAL RECESSIVE.

By Laboratorio de Genetica Clinica SL in Spain.

TNFRSF11A, CLCN7, CA2, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
38 %
Genes
100 %
Autosomal Recessive Malignant Osteopetrosis Type 6 , Sequencing PLEKHM1 Gene.

By Reference Laboratory Genetics in Spain.

PLEKHM1
Specificity
100 %
Genes
34 %
Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

LRP5, TNFRSF11A, CLCN7, CA2, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
34 %
Genes
100 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
67 %
CLCN7 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CLCN7
Specificity
100 %
Genes
34 %
CLCN7 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CLCN7
Specificity
100 %
Genes
34 %
CLCN7 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

CLCN7
Specificity
100 %
Genes
34 %
CLCN7 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CLCN7
Specificity
100 %
Genes
34 %
CLCN7. Complete sequencing.

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

CLCN7
Specificity
100 %
Genes
34 %
CLCN7. Complete sequencing.

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

CLCN7
Specificity
100 %
Genes
34 %
Osteopetrosis (sequence analysis of CLCN7 gene).

By CGC Genetics in Portugal.

CLCN7
Specificity
100 %
Genes
34 %
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
67 %
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
67 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
67 %
Osteopetrosis via CLCN7 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CLCN7
Specificity
100 %
Genes
34 %
Osteopetrosis core NGS panel.

By Connective Tissue Gene Tests in United States.

CLCN7, OSTM1, TCIRG1
Specificity
67 %
Genes
67 %
Osteopetrosis core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CLCN7, OSTM1, TCIRG1
Specificity
67 %
Genes
67 %
Osteopetrosis core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CLCN7, OSTM1, TCIRG1
Specificity
67 %
Genes
67 %
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 Comprehensive Test.

By Connective Tissue Gene Tests in United States.

CLCN7
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

CLCN7
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 NGS Test.

By Connective Tissue Gene Tests in United States.

CLCN7
Specificity
100 %
Genes
34 %
Osteopetrosis type autosomal dominant type 1.

By Centogene AG - the Rare Disease Company in Germany.

CLCN7
Specificity
100 %
Genes
34 %
Osteopetrosis autosomal recessive type 4.

By Centogene AG - the Rare Disease Company in Germany.

CLCN7
Specificity
100 %
Genes
34 %
CLCN7-Related osteopetrosis: CLCN7 gene sequence analysis.

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

CLCN7
Specificity
100 %
Genes
34 %
Skeletal Dysplasia With Increased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, CTSK, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, FERMT3, TBXAS1, LRP4, GALNT3, HPGD , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
67 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
2 %
Genes
67 %
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
67 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
2 %
Genes
67 %
CLCN7.

By Fulgent Genetics Fulgent Genetics in United States.

CLCN7
Specificity
100 %
Genes
34 %
Osteopetrosis and Dense Bone Dysplasia Panel.

By Blueprint Genetics in Finland.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, SLC29A3 , (...)

View the complete list with 5 more genes
Specificity
8 %
Genes
67 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
34 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
34 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
2 %
Genes
67 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
67 %
Anemia Panel.

By Blueprint Genetics in Finland.

BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
34 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
67 %
Autosomal recessive osteopetrosis type 4.

By Bioarray in Spain.

CLCN7
Specificity
100 %
Genes
34 %
Osteopetrosis autosomal dominant type 2.

By Bioarray in Spain.

CLCN7
Specificity
100 %
Genes
34 %
Osteopetrosis, Autosomal Dominant Only NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

LRP5, CLCN7
Specificity
50 %
Genes
34 %
CLCN7 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

CLCN7
Specificity
100 %
Genes
34 %
OSTEOPETROSIS, AUTOSOMAL DOMINANT (ALBERS-SCHONBERG DISEASE).

By Laboratorio de Genetica Clinica SL in Spain.

CLCN7
Specificity
100 %
Genes
34 %
Autosomal Recessive Osteopetrosis Type 4 , Sequencing CLCN7 Gene.

By Reference Laboratory Genetics in Spain.

CLCN7
Specificity
100 %
Genes
34 %
Autosomal Dominant Osteopetrosis Type 2 , Sequencing CLCN7 Gene.

By Reference Laboratory Genetics in Spain.

CLCN7
Specificity
100 %
Genes
34 %
Autosomal Dominant Osteopetrosis Type 2 , Sequencing CLCN7 Gene.

By Reference Laboratory Genetics in Spain.

CLCN7
Specificity
100 %
Genes
34 %
TCIRG1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

TCIRG1
Specificity
100 %
Genes
34 %
TCIRG1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TCIRG1
Specificity
100 %
Genes
34 %
TCIRG1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TCIRG1
Specificity
100 %
Genes
34 %
TCIRG1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TCIRG1
Specificity
100 %
Genes
34 %
TCIRG1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TCIRG1
Specificity
100 %
Genes
34 %
TCIRG1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TCIRG1
Specificity
100 %
Genes
34 %
TCIRG1. Complete sequencing.

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

TCIRG1
Specificity
100 %
Genes
34 %
Osteopetrosis (sequence analysis of TCIRG1 gene).

By CGC Genetics in Portugal.

TCIRG1
Specificity
100 %
Genes
34 %
Osteopetrosis via the TCIRG1 Gene.

By PreventionGenetics PreventionGenetics in United States.

TCIRG1
Specificity
100 %
Genes
34 %
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
34 %
Osteopetrosis, autosomal recessive 1 NGS test.

By Connective Tissue Gene Tests in United States.

TCIRG1
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal recessive 1 Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TCIRG1
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal recessive 1 Comprehensive test.

By Connective Tissue Gene Tests in United States.

TCIRG1
Specificity
100 %
Genes
34 %
Osteopetrosis autosomal recessive type 1.

By Centogene AG - the Rare Disease Company in Germany.

TCIRG1
Specificity
100 %
Genes
34 %
Defects of phagocytosis Panel.

By CeGaT GmbH in Germany.

HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
34 %
Osteopetrosis: TCIRG1 gene sequence analysis.

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

TCIRG1
Specificity
100 %
Genes
34 %
TCIRG1.

By Fulgent Genetics Fulgent Genetics in United States.

TCIRG1
Specificity
100 %
Genes
34 %
Autosomal recessive malignant osteopetrosis.

By Bioarray in Spain.

TCIRG1
Specificity
100 %
Genes
34 %
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
34 %
Severe Congenital Neutropenia Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

RUNX1, SLC37A4, HAX1, AP3B1, TAZ, TCIRG1, KRAS, NRAS, GATA2, SBDS, WAS, VPS13B, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
34 %
TCIRG1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

TCIRG1
Specificity
100 %
Genes
34 %
Autosomal Recessive Osteopetrosis (TCIRG1) Targeted Testing.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

TCIRG1
Specificity
100 %
Genes
34 %
Infantile Malignant Osteopetrosis , Sequencing TCIRG1 Gene.

By Reference Laboratory Genetics in Spain.

TCIRG1
Specificity
100 %
Genes
34 %

Alternate names

Osteopetrosis, Autosomal Recessive 6; Optb6 Is also known as osteopetrosis, autosomal recessive, intermediate form;autosomal recessive intermediate osteopetrosis.



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