Glycogen Storage Disease Ib; Gsd1b

Description

Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

Clinical Features

Top most frequent phenotypes and symptoms related to Glycogen Storage Disease Ib; Gsd1b

  • Short stature
  • Growth delay
  • Hepatomegaly
  • Hypertension
  • Osteoporosis
  • Elevated hepatic transaminase
  • Proteinuria
  • Hypoglycemia
  • Delayed puberty
  • Lactic acidosis
And another 17 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Glycogen Storage Disease Ib; Gsd1b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
100 %
SLC37A4 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

SLC37A4
Specificity
100 %
Genes
100 %
SLC37A4 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SLC37A4
Specificity
100 %
Genes
100 %
SLC37A4 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SLC37A4
Specificity
100 %
Genes
100 %
SLC37A4 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SLC37A4
Specificity
100 %
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
100 %
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
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
SLC37A4 Mutation Analysis for GSD 1b.

By Molecular Diagnostics Laboratory Duke University Health System in United States.

SLC37A4
Specificity
100 %
Genes
100 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

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

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Inherited Neutropenia panel by next-generation sequencing (NGS).

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

SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

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

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Inherited Neutropenia Deletion/Duplication Panel.

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

SLC37A4, HAX1, AP3B1, TAZ, GATA2, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1
Specificity
5 %
Genes
100 %
SLC37A4 Deletion/duplication analysis.

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

SLC37A4
Specificity
100 %
Genes
100 %
SLC37A4 Sequencing.

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

SLC37A4
Specificity
100 %
Genes
100 %
Glycogenosis type Ib.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

SLC37A4
Specificity
100 %
Genes
100 %
Glycogen Storage Disease Type Ib.

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

SLC37A4
Specificity
100 %
Genes
100 %
Glycogen Storage Disease- Liver.

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

AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2, PFKL, GYG2
Specificity
8 %
Genes
100 %
SLC37A4. Complete sequencing.

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

SLC37A4
Specificity
100 %
Genes
100 %
SLC37A4. Detection of the mutations .1042_1043delCT and p.Gly339Cys by sequencing.

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

SLC37A4
Specificity
100 %
Genes
100 %
Ketotic Hypoglycemia Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, GYS2, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKB
Specificity
10 %
Genes
100 %
Ketotic Hypoglycemia Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, GYS2, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKB
Specificity
10 %
Genes
100 %
Glycogen Storage Disease Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1
Specificity
6 %
Genes
100 %
Ketotic Hypoglycemia Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, GYS2, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKB
Specificity
10 %
Genes
100 %
Glycogen Storage Disease Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1
Specificity
6 %
Genes
100 %
Glycogen Storage Disease Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1
Specificity
6 %
Genes
100 %
Glycogen Storage Disease Type Ib.

By CGC Genetics in Portugal.

SLC37A4
Specificity
100 %
Genes
100 %
Glycogen storage disease due to glucose-6-phosphatase deficiency type 1B (sequence analysis of SLC37A4 gene).

By CGC Genetics in Portugal.

SLC37A4
Specificity
100 %
Genes
100 %
Glycogen storage disease (NGS panel for 13 genes).

By CGC Genetics in Portugal.

AGL, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2, PCK1
Specificity
8 %
Genes
100 %
Hereditary neutropenia (NGS panel for 22 genes).

By CGC Genetics in Portugal.

SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Glycogen storage disease (NGS panel for 22 genes).

By CGC Genetics in Portugal.

AGL, ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, PRKAG2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGL, ALDOA, ALDOB, PC, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PCK2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Metabolic Hypoglycemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGL, ACAT1, ALDOB, FBP1, PC, GYS2, SLC37A4, SLC16A1, ACSF3, PHKA2, PCK2, HMGCL, PYGL, G6PC, PHKG2, PGM1, PHKB, MLYCD, OXCT1, GALT , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Glycogen Storage Disease Type Ib via the SLC37A4 (G6PT1) Gene.

By PreventionGenetics PreventionGenetics in United States.

SLC37A4
Specificity
100 %
Genes
100 %
Severe Congenital Neutropenia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4 , (...)

View the complete list with 5 more genes
Specificity
4 %
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 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Glycogen storage disease type IB.

By Centogene AG - the Rare Disease Company in Germany.

SLC37A4
Specificity
100 %
Genes
100 %
Glycogen storage disease type IC.

By Centogene AG - the Rare Disease Company in Germany.

SLC37A4
Specificity
100 %
Genes
100 %
Bone marrow failure syndromes (Metabolism) Panel.

By CeGaT GmbH in Germany.

SLC37A4, TCN2, SLC35C1, SLC46A1
Specificity
25 %
Genes
100 %
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
100 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

AARS2, ACAD9, ACADL, ACADM, ACADS, ACADVL, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SLC37A4 , (...)

View the complete list with 112 more genes
Specificity
1 %
Genes
100 %
Glycogen Storage Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
SLC37A4.

By Division Human Genetics Medical University Innsbruck in Austria.

SLC37A4
Specificity
100 %
Genes
100 %
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
100 %
Invitae Liver Glycogen Storage Disease Panel.

By Invitae in United States.

AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2
Specificity
10 %
Genes
100 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae in United States.

STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Phagocyte Defects Panel.

By Invitae in United States.

SLC37A4, HAX1, TAZ, SLC35C1, CYBA, PMM2, G6PD, CYBB, WAS, VPS13B, CTSC, CSF2RA, NCF2, NCF4, FERMT3, CSF3R, ELANE, G6PC3, VPS45, GFI1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Invitae Comprehensive Glycogen Storage Disease Panel.

By Invitae in United States.

AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Glycogen storage disease type 1b: SLC37A4 gene mutations analysis (c.1042-1043delCT, Gly339Cys).

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

SLC37A4
Specificity
100 %
Genes
100 %
Glycogen storage disease type 1b: SLC37A4 gene sequence analysis.

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

SLC37A4
Specificity
100 %
Genes
100 %
GLYCOGEN STORAGE DISEASE.

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

AGL, ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Early Onset Inflammatory Bowel Disease: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Glycogen Storage Disorders- Liver: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2
Specificity
10 %
Genes
100 %
Glycogen Storage Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, ENO3, GYS1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, PRKAG2, SLC2A2
Specificity
5 %
Genes
100 %
Inherited Metabolic Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, PC, GYS2, HLCS, ATPAF2, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, SLC37A4, MTRR , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
100 %
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
100 %
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Glycogen Storage Disorders- Liver: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2
Specificity
10 %
Genes
100 %
Glycogen Storage Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, ENO3, GYS1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, PRKAG2, SLC2A2
Specificity
5 %
Genes
100 %
Glycogen Storage Disease Type 1b (SLC37A4).

By Integrated Genetics Westborough Integrated Genetics in United States.

SLC37A4
Specificity
100 %
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
1 %
Genes
100 %
SLC37A4.

By Fulgent Genetics Fulgent Genetics in United States.

SLC37A4
Specificity
100 %
Genes
100 %
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
100 %
Glycogen Storage Disorder Panel.

By Blueprint Genetics in Finland.

AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
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
100 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)

View the complete list with 102 more genes
Specificity
1 %
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 %
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel.

By Blueprint Genetics in Finland.

AGL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, GAA, HNF1A, SLC37A4, SLC16A1, GCK, ACSF3, PHKA2, HMGCL, PYGL, G6PC, PHKG2, PGM1, LDHA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Congenital Neutropenia Panel.

By Blueprint Genetics in Finland.

SLC37A4, HAX1, GATA2, SBDS, WAS, VPS13B, ACTB, CTSC, LYST, CSF2RA, SRP72, CSF3R, IFNGR2, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, JAGN1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Glycogen storage disease type 1b.

By Bioarray in Spain.

SLC37A4
Specificity
100 %
Genes
100 %
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 %
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
100 %
GLYCOGEN STORAGE DISEASE, TYPE 1B.

By Laboratorio de Genetica Clinica SL in Spain.

SLC37A4
Specificity
100 %
Genes
100 %
GLYCOGEN STORAGE: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, GYG1
Specificity
6 %
Genes
100 %
Glycogen Storage Disease Type 1B, Sequencing SLC37A4 Gene.

By Reference Laboratory Genetics in Spain.

SLC37A4
Specificity
100 %
Genes
100 %
Glycogen Storage Disease Type 1B, Mutations (c.1042-1043delCT, Gly339Cys) SLC37A4 Gene.

By Reference Laboratory Genetics in Spain.

SLC37A4
Specificity
100 %
Genes
100 %
Glycogen Storage Disease, Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

AGL, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PFKM, PYGM, GBE1, SLC2A2
Specificity
10 %
Genes
100 %
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
100 %
Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1
Specificity
5 %
Genes
100 %
Glycogen Storage Disease Type Ib.

By Labor Dr. Wisplinghoff in Germany.

SLC37A4
Specificity
100 %
Genes
100 %
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
100 %

Alternate names

Glycogen Storage Disease Ib; Gsd1b Is also known as gsd ib, glucose-6-phosphate transport defect;g6p deficiency type ib; g6p translocase deficiency; g6pt deficiency; gsd due to g6p deficiency type ib; gsd due to g6pt deficiency; gsd type 1 non a; gsd type 1b; gsd type ib; gsdib; glycogen storage disease due to g6p deficiency type ib; glycogen storage disease type 1b; glycogen storage disease type ib; glycogenosis due to glucose-6-phosphatase deficiency type 1b; glycogenosis due to glucose-6-phosphatase transport defect type ib; glycogenosis type 1b; glycogenosis type ib.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SMITH-MAGENIS SYNDROME FOVEAL HYPOPLASIA 1; FVH1 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more