Microcephalic dwarfism. RNU4ATAC gene sequencing [1 gene]

Microcephalic osteodysplastic primordial dwarfism type I is caused by biallelic mutations in the RNU4ATAC gene. It consists of severe skeletal dysplasia characterized by dwarfism, microcephaly, and neurological abnormalities, such as mental retardation, brain malformations, and ocular/auditory sensory deficits.

Microcephalic osteodysplastic primordial dwarfism type I: <1 / 1,000,000 (ORPHA:2636).

The RNU4ATAC gene is not covered by the exome solution currently used in our company. Therefore, if there is clinical suspicion of the disease, it is recommended to request this specific service.

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Steps to follow
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Microcephalic dwarfism. RNU4ATAC gene sequencing

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Technique: Sanger

Turnaround time (TAT): 25 days

Ref. S-202211194

Microcephalic dwarfism. RNU4ATAC gene sequencing: View panel
  • RNU4ATAC

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.

Phenotypes

Microcephalic osteodysplastic primordial dwarfism type I

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