Bernard-soulier Syndrome, Type A2, Autosomal Dominant

Incidence and onset information

Not enough data available about incidence and published cases.

Bernard-soulier Syndrome, Type A2, Autosomal Dominant Common symptoms

Phenotypes related to Bernard-soulier Syndrome, Type A2, Autosomal Dominant

  • Prolonged bleeding after dental extraction
  • Increased mean platelet volume
  • Stomatocytosis
  • Menorrhagia
  • Petechiae
  • Gingival bleeding
  • Hemolytic anemia
  • Epistaxis
  • Bruising susceptibility
  • Splenomegaly
  • Autosomal dominant inheritance

Genes related to Bernard-soulier Syndrome, Type A2, Autosomal Dominant

  • GP1BA
  • GP9
  • GP1BB

Bernard-soulier Syndrome, Type A2, Autosomal Dominant Recommended genes panels

Panel Name & Genes Tested specificity Genes covered
Platelet Disorders

GP1BA, DHCR24, ANKRD26, A2M, ADRA2A, ABCA1, FERMT3, GP6, FGA, GGCX, MYO5A, GNAS, GNAQ, TBXA2R, VPS33B, FGG, PLA2G7, P2RX1, USF1, F8 , (...)

View the complete list with 35 more genes

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2 % 34 %
Thrombocytopenia Sequencing Panel

CFH, CFB, CD46, VWF, TERT, SLFN14, RUNX1T1, PRKACG, MPL, ITGB3, GFI1B, FYB1, FLNA, ANKRD26, ITGA2B, MYH9, NBEAL2, TUBB1, GATA1, ADAMTS13 , (...)

View the complete list with 23 more genes

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7 % 100 %
Bernard Soulier Syndrome

GP1BA, GP9, GP1BB

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100 % 100 %
VWD Platelet Type (GP1BA) 4 Mutations

GP1BA

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100 % 34 %
Bernard-Soulier syndrome

GP1BA, GP1BB, GP9

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100 % 100 %
GP1BA. Complete sequencing

GP1BA

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100 % 34 %
Bernard-Soulier syndrome (sequence analysis of GP1BA gene)

GP1BA

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100 % 34 %
Bernard-Soulier syndrome, type A

GP1BA

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100 % 34 %
Pseudo von Willebrand disease

GP1BA

More info about this panel
100 % 34 %
BERNARD-SOULIER SYNDROME

GP1BA, GP1BB, GP9

More info about this panel
100 % 100 %
Thrombocytopenia Sequencing Panel

ANKRD26, GP1BA, MPL, GATA1, ADAMTS13, MYH9, RUNX1, GP9, MASTL, WAS, GP1BB, CYCS

More info about this panel
25 % 100 %
Bleeding Disorders Sequencing Panel

P2RX1, GFI1B, GP6, DTNBP1, CD36, RUNX1, MYH9, TBXAS1, BLOC1S3, F8, PLAU, GGCX, SERPINF2, ANKRD26, PRKACG, FGG, ITGA2, HPS3, SERPINE1, F13A1 , (...)

View the complete list with 41 more genes

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5 % 100 %
Platelet Function Disorder Sequencing Panel

TBXAS1, BLOC1S3, PLAU, P2RX1, GP6, DTNBP1, CD36, HPS5, TBXA2R, ITGB3, ITGA2B, GP1BA, ITGA2, HPS3, GP1BB, HPS4, AP3B1, GP9, ANO6, HPS1 , (...)

View the complete list with 2 more genes

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14 % 100 %
Bernard-Soulier Syndrome via the GP1BA Gene

GP1BA

More info about this panel
100 % 34 %
Thrombocytopenia Sequencing Panel - Expanded

GATA1, MYH9, PRKACG, GFI1B, FLNA, NBEAL2, ITGB3, TUBB1, ADAMTS13, ABCG8, ITGA2B, ANKRD26, GP1BA, MPL, RUNX1, FLI1, ACTN1, GP9, WAS, GP1BB , (...)

View the complete list with 5 more genes

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12 % 100 %
Bernard-Soulier Panel

GP1BA, GP9, GP1BB

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100 % 100 %
Bernard Soulier syndrome type A1

GP1BA

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100 % 34 %
Bernard Soulier syndrome type A2

GP1BA

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100 % 34 %
Thrombocytopenia panel

GATA1, RUNX1, MPL, MYH9, ITGB3, ITGA2B, GP1BA, ADAMTS13, WAS, GP9, GP1BB, MASTL

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25 % 100 %
von Willebrand disease platelet type

GP1BA

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100 % 34 %
Nonarteritic anterior ischemic optic neuropathy

GP1BA

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100 % 34 %
AllNeuro panel

MTOR, JRK, CAV3, NXF5, AMPD2, SCN3A, ZCCHC12, ARSI, USP8, TTN, TBL1XR1, TFG, DHTKD1, ERLIN1, LIMS2, MAG, DAG1, HMGCS2, MTR, PTS , (...)

View the complete list with 1185 more genes

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1 % 34 %
CentoICU platinum plus

ADA, SOX6, INS, KRAS, HNF1A, DNA2, SLC2A1, GNAS, WT1, F5, IL2, NPC1, FGFR2, HBB, LAMB3, ACADL, AIFM1, RET, F9, FBN1 , (...)

View the complete list with 494 more genes

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1 % 67 %
CentoICU platinum

ADA, SOX6, INS, KRAS, HNF1A, DNA2, SLC2A1, GNAS, WT1, F5, IL2, NPC1, FGFR2, HBB, LAMB3, ACADL, AIFM1, RET, F9, FBN1 , (...)

View the complete list with 494 more genes

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1 % 67 %
Bernard Soulier Syndrome

GP1BA, GP9, GP1BB

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100 % 100 %
Bernard-Soulier syndrome A

GP1BA

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100 % 34 %
Thrombocytopenia Panel

GP1BA, GATA1, ADAMTS13, ITGB3, ITGA2B, MPL, MYH9, THBD, AP3B1, GP9, GP1BB, MASTL, RBM8A

More info about this panel
24 % 100 %
Thrombocytopenia

ANKRD26, ITGA2B, MPL, RUNX1, MYH9, GATA1, ADAMTS13, GP1BA, CYCS, WAS, GP1BB, GP9, MASTL

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24 % 100 %
Platelet Antigen Genotyping Panel

ITGB3, ITGA2, ITGA2B, GP1BA, CD109

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20 % 34 %
VWD Platelet-Type Sequence Analysis

GP1BA

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100 % 34 %
Bernard-Soulier Syndrome Sequence Analysis

GP1BA, GP9, GP1BB

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100 % 100 %
aCGH Deletion/Duplication Analysis

PROC, LMNA, CFH, PLA2G4A, GGCX, ADAMTS13, MPL, GP1BA, C4BPB, FGA, FGG, HAX1, RUNX1, CFB, CD46, F2, VWF, MYH9, GP6, BLOC1S3 , (...)

View the complete list with 45 more genes

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5 % 100 %
Bernard-Soulier syndrome A1

GP1BA

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100 % 34 %
Bernard-Soulier syndrome A2

GP1BA

More info about this panel
100 % 34 %
von Willebrand disease, platelet-type

GP1BA

More info about this panel
100 % 34 %
Bernard-Soulier Syndrome Type A

GP1BA

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100 % 34 %
Pseudo-von Willebrand Disease

GP1BA

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100 % 34 %
Bernard-Soulier syndrome A1

GP1BA

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100 % 34 %
Bernard-Soulier syndrome A2

GP1BA

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100 % 34 %
von Willebrand disease, platelet-type

GP1BA

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100 % 34 %
Thrombocytopenia NGS Panel

ADAMTS13, MYH9, GP1BA, MPL, GATA1, RUNX1, WAS, GP9, GP1BB, MASTL

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30 % 100 %
Coagulation NGS Panel

F8, GP1BA, F9, VWF

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25 % 34 %
GP1BA

GP1BA

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100 % 34 %
Thrombocytopenia Panel

ADAMTS13, ANKRD26, GATA1, GP1BA, RUNX1, FLNA, ITGA2B, MPL, ABCG8, ITGA2, ITGB3, MYH9, TUBB1, NBEAL2, SLFN14, ABCG5, ACTN1, CYCS, GP9, GP1BB , (...)

View the complete list with 5 more genes

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12 % 100 %
Platelet Function Disorder Panel

DTNBP1, GP1BA, HPS5, RUNX1, TBXA2R, ITGA2B, HPS3, ITGB3, NBEAL2, BLOC1S3, AP3B1, GP9, GP1BB, HPS1, BLOC1S6, HPS6, HPS4, P2RY12

More info about this panel
17 % 100 %
Bleeding Disorder/Coagulopathy Panel

ABCG8, ADAMTS13, ANKRD26, BLOC1S3, F5, F9, DTNBP1, F13A1, GATA1, FGA, GGCX, GP1BA, HPS5, PROC, PROS1, RUNX1, TBXA2R, FGG, FLNA, ITGA2B , (...)

View the complete list with 34 more genes

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6 % 100 %
Comprehensive Hematology Panel

ABCA3, ADAMTS13, MTR, AK2, ANK1, ANKRD26, ATRX, ATM, BRCA2, BLOC1S3, BRIP1, CTSC, F5, F9, DKC1, DTNBP1, CDKN2A, F13A1, GATA1, HAX1 , (...)

View the complete list with 155 more genes

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2 % 100 %
Genetic Study of Hereditary Thrombophilia (10 genes)

F5, F13A1, SERPINE1, PROS1, GP1BA, F2, PROCR, MTHFR, SERPINC1

More info about this panel
12 % 34 %
BERNARD-SOULIER SYNDROME

GP1BA, GP9, GP1BB

More info about this panel
100 % 100 %
Bernard-Soulier Syndrome Type A2 , Sequencing GP1BA Gene

GP1BA

More info about this panel
100 % 34 %
Bernard-Soulier Syndrome Type A1 , Sequencing GP1BA Gene

GP1BA

More info about this panel
100 % 34 %
GP9. Complete sequencing

GP9

More info about this panel
100 % 34 %
Bernard-Soulier syndrome (sequence analysis of GP9 gene)

GP9

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100 % 34 %
Bernard-Soulier syndrome type C

GP9

More info about this panel
100 % 34 %
Bernard-Soulier Syndrome via the GP9 Gene

GP9

More info about this panel
100 % 34 %
Bernard Soulier syndrome type C

GP9

More info about this panel
100 % 34 %
Bernard-Soulier syndrome C

GP9

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100 % 34 %
Bernard-Soulier Syndrome Type C

GP9

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100 % 34 %
Bernard-Soulier syndrome C

GP9

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100 % 34 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel

MECP2, WISP3, LAMB3, HADHA, DPYD, CLN5, BCKDHA, SGCG, POMGNT1, NPHS2, NPHS1, LAMA3, MUT, MMAA, GNPTAB, NBN, CYP1B1, CFTR, PANK2, G6PD , (...)

View the complete list with 127 more genes

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2 % 67 %
GP9

GP9

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100 % 34 %
Bernard-Soulier Syndrome Type C , Sequencing GP9 Gene

GP9

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100 % 34 %
FamilyReady Carrier Screen (204 Genes/400+ Disorders)

RARS2, AGL, BTD, ATM, ATP6V1B1, BCS1L, BCKDHB, VSX2, CERKL, BBS10, BCKDHA, NDUFAF5, CTSC, CLN8, CLRN1, F9, DNAH5, CHM, EYS, GLA , (...)

View the complete list with 136 more genes

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2 % 67 %
Bernard Soulier syndrome Type B

GP1BB

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100 % 34 %
GP1BB Deletion/duplication analysis

GP1BB

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100 % 34 %
GP1BB Sequencing

GP1BB

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100 % 34 %
GPIbß sequencing

GP1BB

More info about this panel
100 % 34 %
GPIbß deletion/duplication analysis

GP1BB

More info about this panel
100 % 34 %
GP1BB. Complete sequencing

GP1BB

More info about this panel
100 % 34 %
Bernard-Soulier syndrome (sequence analysis of GP1BB gene)

GP1BB

More info about this panel
100 % 34 %
Bernard-Soulier Syndrome Type B

GP1BB

More info about this panel
100 % 34 %
Bernard-Soulier Syndrome via the GP1BB Gene

GP1BB

More info about this panel
100 % 34 %
Bernard Soulier syndrome type B

GP1BB

More info about this panel
100 % 34 %
Bernard-Soulier syndrome B

GP1BB

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100 % 34 %
Bernard-Soulier Syndrome Type B

GP1BB

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100 % 34 %
Bernard-Soulier syndrome B

GP1BB

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100 % 34 %
GP1BB

GP1BB

More info about this panel
100 % 34 %
Bernard-Soulier Syndrome Type B , Sequencing GP1BB Gene

GP1BB

More info about this panel
100 % 34 %

Sources

OMIM ORPHANET