Genomics Precision Diagnostic > Prenatal > Primary Microcephaly Precision Panel

Primary Microcephaly Precision Panel – 31 genes

Microcephaly is generally defined as a small head size, typically greater than two standard deviations below normal, as measured via occipital frontal circumference, using a measuring tape. Microcephaly is a clinical sign and not a disease.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Microcephaly is generally defined as a small head size, typically greater than two standard deviations below normal, as measured via occipital frontal circumference, using a measuring tape. Microcephaly is a clinical sign and not a disease. It is the result of a premature fusion of the skull sutures that leads to an abnormal shape and a growth limitation of the head circumference that can later result in long term neurological sequelae. The cause of microcephaly can be divided in two groups: premature fusion of cranial sutures, also known as craniosynostosis or poor brain growth. Genetic conditions are one of the etiologies of microcephaly and include: Trisomy 21, 13, 18, Cri Du Chat syndrome, Williams syndrome etc. Also, inborn errors of metabolism, disruptive injuries and maternal deprivation problems can lead to microcephaly. Primary microcephaly is usually inherited in an autosomal recessive pattern.
The Igenomix Primary Microcephaly Precision Panel  can be as a diagnostic tool to reveal underlying genetic conditions 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, and their high or intermediate penetrance.

Indication

The Igenomix Primary Microcephaly Precision Panel is indicated in those cases where there is:
- Head circumference more than 2 standard deviations below the mean
- Consistent low percentile of head circumference ultrasound measurements during pregnancy
- Associated syndromic features: congenital heart defects, umbilical hernia, hypotonia, low set ears, short neck, overlapping fingers, micrognathia, polydactyly etc

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular diagnosis for an accurate clinical diagnosis of microcephaly as well as underlying genetic conditions.
Early initiation of treatment with a multidisciplinary team for appropriate surveillance, surgical care and long-term monitoring to ensure proper cerebral and cranial growth.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improved pathways from diagnosis to treatment in susceptible populations.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ANKLE2*	Autosomal Recessive Primary Microcephaly	AR	96.08	4 of 4
*ASPM*	Autosomal Recessive Primary Microcephaly	AR	99.74	221 of 222
*CDK5RAP2*	Autosomal Recessive Primary Microcephaly	AR	100	32 of 32
*CDK6*	Autosomal Recessive Primary Microcephaly	AR	100	1 of 1
*CENPE*	Autosomal Recessive Primary Microcephaly, Seckel Syndrome	AR	95.69	5 of 5
*CENPJ*	Autosomal Recessive Primary Microcephaly, Seckel Syndrome	AR	99.97	13 of 13
*CEP135*	Autosomal Recessive Primary Microcephaly	AR	99.48	7 of 8
*CEP152*	Autosomal Recessive Primary Microcephaly, Seckel Syndrome	AR	97.73	21 of 24
*CEP63*	Autosomal Recessive Primary Microcephaly, Seckel Syndrome	AR	100	3 of 3
*CIT*	Autosomal Recessive Primary Microcephaly	AR	99.98	17 of 17
*COPB2*	Autosomal Recessive Primary Microcephaly	AR	99.64	4 of 4
*DPP6*	Autosomal Dominant Primary Microcephaly, Paroxysmal Familial Ventricular Fibrillation, Autosomal Dominant Mental Retardation	AD	97.03	23 of 28
*KIF14*	Autosomal Recessive Primary Microcephaly, Meckel Syndrome	AR	99.84	18 of 18
*KNL1*	Autosomal Recessive Primary Microcephaly	AR	98.91	NA of NA
*TRAPPC14*	Autosomal Recessive Primary Microcephaly	AR	na	na
*MCPH1*	Autosomal Recessive Primary Microcephaly	AR	99.51	18 of 19
*MFSD2A*	Autosomal Recessive Primary Microcephaly	AR	97.58	6 of 6
*NCAPD2*	Autosomal Recessive Primary Microcephaly	AR	99.98	4 of 4
*NCAPD3*	Autosomal Recessive Primary Microcephaly	AR	99.97	4 of 5
*NCAPH*	Autosomal Recessive Primary Microcephaly	AR	99.99	1 of 1
*NUP37*	Autosomal Recessive Primary Microcephaly	AR	100	3 of 3
*PHC1*	Autosomal Recessive Primary Microcephaly	AR	91.73	1 of 1
*PPP1R15B*	Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	AR	99.98	5 of 5
*PYCR2*	Autosomal Recessive Primary Microcephaly, Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	AR	98.29	14 of 14
*SASS6*	Autosomal Recessive Primary Microcephaly	AR	99.14	6 of 6
*STIL*	Autosomal Recessive Primary Microcephaly	AR	99.94	18 of 18
*TAF13*	Autosomal Recessive Primary Microcephaly	AR	99.97	5 of 5
*TRMT10A*	Primary Microcephaly-Mild Intellectual Disability-Young- Onset Diabetes Syndrome	AR	99.81	7 of 7
*WDFY3*	Autosomal Dominant Primary Microcephaly, Non-Specific Syndromic Intellectual Disability	AD	99.95	60 of 60
*WDR62*	Autosomal Recessive Primary Microcephaly With Or Without Cortical Malformations	AR	100	60 of 61
*ZNF335*	Microcephalic Primordial Dwarfism Due To Znf335 Deficiency, Autosomal Recessive Primary Microcephaly	AR	99.83	20 of 20

* 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

References

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