Rett-like syndrome [41 genes]

Rett syndrome is a rare genetic disease that causes problems in development and the nervous system, mostly in girls. It is related to autism spectrum disorder. At first, babies with Rett syndrome appear to grow and develop normally. However, between three months and three years old, they stop their development and may even lose some skills. Symptoms include:

  • Loss of speech
  • Loss of hand movements, such as grasping things
  • Compulsive movements such as hand-wringing
  • Balance problems
  • Respiratory problems
  • Behavioral problems
  • Learning problems or intellectual disabilities

Clinical suspicion of Rett syndrome.

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Rett-like syndrome

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202211727

Rett-like syndrome: View panel
  • ARX
  • BTBD9
  • CACNA1I
  • CDKL5
  • CHD4
  • CHRNA5
  • CNTNAP2
  • EEF1A2
  • EIF2B2
  • FOXG1
  • FOXP2
  • GABBR2
  • GRIN2A
  • GRIN2B
  • HCN1
  • HERC2
  • IQSEC2
  • KCNA2
  • KCNQ2
  • MECP2
  • MEF2C
  • NRXN1
  • NTNG1
  • PLP1
  • SCN1A
  • SCN2A
  • SCN8A
  • SHANK3
  • SHROOM4
  • SLC2A1
  • SLC39A13
  • SLC6A1
  • SMC1A
  • STXBP1
  • SYNGAP1
  • TBL1XR1
  • TCF4
  • UBE3A
  • WDR45
  • ZBTB18
  • ZEB2

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Fiest KM, Sauro KM, Wiebe S, et al. Prevalence and incidence of epilepsy: a systematic review and meta-analysis of international studies. Neurology. 2017;88(3):296-303.
  2. Mercimek-Mahmutoglu S, Patel J, Cordeiro D, et al. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia. 2015;56(5):707-716.
  3. Wang J, Gotway G, Pascual JM, Park JY. Diagnostic yield of clinical next-generation sequencing panels for epilepsy. JAMA Neurol. 2014; 71(5):650-651.
  4. Myers KA, Johnstone DL, Dyment DA. Epilepsy genetics: Current knowledge, applications, and future directions. Clin Genet. 2019;95:95–111.