46,xy Sex Reversal 2; Srxy2

Clinical Features

Phenotypes and symptoms related to 46,xy Sex Reversal 2; Srxy2

  • Intellectual disability
  • Amenorrhea
  • Primary amenorrhea
  • Adrenal insufficiency
  • Gonadal dysgenesis
  • Sex reversal

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

46,xy Sex Reversal 2; Srxy2 Is also known as dss, 46,xy sex reversal, dax1-related, dosage-sensitive sex reversal.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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46,xy Sex Reversal 2; Srxy2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Primary Adrenal Insufficiency Evaluation.

By Athena Diagnostics Inc (United States).

AIRE, ABCD1, NR0B1
Specificity
34 %
Genes
100 %
NR0B1 (Adrenal Hypoplasia Congenita) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

NR0B1
Specificity
100 %
Genes
100 %
Isolated X-Linked Adrenal Hypoplasia Congenita.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

NR0B1
Specificity
100 %
Genes
100 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Hypogonadotropic Hypogonadism Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

TAC3, TACR3, WDR11, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, FGF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, KISS1R, ANOS1, LHB, NR0B1
Specificity
6 %
Genes
100 %
Hypogonadotropic Hypogonadism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

TAC3, TACR3, WDR11, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, FGF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, KISS1R, ANOS1, LHB, NR0B1
Specificity
6 %
Genes
100 %
NR0B1. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

NR0B1
Specificity
100 %
Genes
100 %
NR0B1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

NR0B1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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