Genomics Precision Diagnostic > Prenatal > Kallmann Syndrome Precision Panel

Kallmann Syndrome Precision Panel – 27 genes

Kallmann Syndrome (KS) is a rare genetic disorder that belongs to the spectrum of isolated hypogonadotropic hypogonadism. This decrease in gonadal function is due to a failure in differentiation or migration of neurons that embryologically arise in the olfactory mucosa and travel to the hypothalamus.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Kallmann Syndrome (KS) is a rare genetic disorder that belongs to the spectrum of isolated hypogonadotropic hypogonadism. This decrease in gonadal function is due to a failure in differentiation or migration of neurons that embryologically arise in the olfactory mucosa and travel to the hypothalamus. Thus, a particular feature of Kallman Syndrome is the presence of either anosmia (lack of sense of smell) or severe hyposmia. Some non-reproductive, non-olfactory symptoms can also be present, depending on the genetic form of disease which include cranial anomalies, missing teeth, optic problems and/or congenital heart disease. Inability to attain puberty or failure to fully complete it is one of the main forms of presentation and an early interventional replacement therapy could prevent further complications derived from a delay in treatment. It is inherited typically in an autosomal dominant fashion.
The Igenomix Kallmann Syndrome Precision Panel can be used to make a directed and accurate diagnosis as well as a differential diagnosis of hypogonadotropic hypogonadism ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Kallmann Syndrome Precision Panel is indicated for those patients with a clinical diagnosis or suspicion with or without the following manifestations:
- Amenorrhea
- Dyspareunia
- Infertility
- Decreased muscle strength and diminished aggressiveness and drive in men
- Osteoporosis
- Anosmia or hyposmia (decreased or absent sense of smell)
- Fatigue
- Difficulty breathing
- Palpitations
- Syncope
- Color blindness
- Epilepsy
- Deafness
- Paraplegia
- Skeletal abnormalities

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team gonadal steroid replacement therapy, assisted reproduction technology (ARTs), psychological counselling and surveillance and prevention of complications such as osteoporosis, adrenocortical insufficiency and neurologic disorders.
Early planification of surgical care for congenital heart disease and cleft lip or palate.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ANOS1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	X,XR,G	96.86	–
*CCDC141*	Hypogonadotropic Hypogonadism Without Anosmia, Kallmann Syndrome	AR	99.7	1 of 1
*CHD7*	Charge Syndrome, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Omenn Syndrome	AD	96.25	823 of 896
*DCC*	Familial Horizontal Gaze Palsy, With Progressive Scoliosis, With Impaired Intellectual Development, Familial Congenital Mirror Movements, Kallmann Syndrome	AD,AR	94	39 of 39
*DUSP6*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD,AR	99.36	4 of 4
*FEZF1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AR	99.95	3 of 3
*FGF17*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD,AR	99.98	8 of 8
*FGF8*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Alobar Holoprosencephaly, Kallmann Syndrome, Lobar Holoprosencephaly, Microform Holoprosencephaly, Midline Interhemispheric Variant Of Holoprosencephaly, Normosmic Congenital Hypogonadotropic Hypogonadism	AD	98.36	38 of 38
*FGFR1*	Encephalocraniocutaneous Lipomatosis, Hartsfield Syndrome, Jackson-Weiss Syndrome, Kallmann Syndrome, Osteoglophonic Dysplasia, Pfeiffer Syndrome, Isolated Trigonocephaly, Lobar Holoprosencephaly, Microform Holoprosencephaly, Normosmic Congenital Hypogonadotropic Hypogonadism, Oligodontia, Osteoglosphonic Dysplasia, Septo-Optic Dysplasia Spectrum	AD	100	279 of 280
*FLRT3*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AD	99.98	7 of 7
*GNRH1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	100	12 of 12
*GNRHR*	Hypogonadotropic Hypogonadism Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	100	59 of 59
*HESX1*	Septooptic Dysplasia, Combined Pituitary Hormone Deficiencies, Kallmann Syndrome, Pituitary Stalk Interruption Syndrome, Septo-Optic Dysplasia Spectrum	AD,AR	100	26 of 26
*HS6ST1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD	99.97	8 of 8
*IL17RD*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AD,AR	99.95	17 of 17
*KISS1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	100	9 of 10
*KISS1R*	Hypogonadotropic Hypogonadism With Or Without Anosmia , Central Precocious Puberty, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD,AR	99.41	42 of 43
*NDNF*	Hypogonadotropic Hypogonadism With Anosmia, Kallmann Syndrome	AD	99.33	–
*NSMF*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD	99.69	11 of 11
*PROK2*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD	100	20 of 20
*PROKR2*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Pituitary Stalk Interruption Syndrome, Septo-Optic Dysplasia Spectrum	AD	100	64 of 64
*SEMA3A*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AD	100	29 of 29
*SOX10*	Peripheral Demyelinating Neuropathy, Waardenburg Syndrome, Kallmann Syndrome, Waardenburg- Shah Syndrome	AD	99.74	139 of 147
*SPRY4*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD,AR	99.72	13 of 13
*TAC3*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	100	10 of 10
*TACR3*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AR	99.97	40 of 40
*WDR11*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Pituitary Stalk Interruption Syndrome	AD,AR	100	19 of 19

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

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