ACMG (American College of Medical Genetics and Genomics) Pathogenicity Criteria The criteria established by the ACMG and the AMP (Association for Molecular Pathology) guide the classification and clinical interpretation of genetic variants identified in molecular studies: Pathogenic: Overwhelming scientific evidence demonstrating that the variant causes the disease. Probably Pathogenic: High probability…
Category archives: Complementary investigations
Indication of cosegregation.
Carrying out cosegregation studies has 2 main uses: Example: Variant classified as probably pathogenic, which after applying the PS2 criterion is reclassified as pathogenic. Example 2: Probably pathogenic variant that is reclassified as pathogenic.
How to understand a report of sequencing.
Sequencing results reports are complex documents full of alphanumeric data that are difficult to understand without general bases to help us interpret them. We usually focus on the final conclusion, that is, the finding of a specific genetic variant and its interpretation of pathogenicity, is the most clinically relevant piece of information, but...
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Disease linked to the X of special relevance neurogenetics.
Recessive X-linked inheritance pattern: Dominant X-linked inheritance pattern: Hollandric or Y-linked inheritance. Pseudoautosomal inheritance or “partial sex linkage.” Since X-linked diseases are more limited in number than autosomal diseases, it is a better strategy to know and learn about them. You can consult an extensive list…
Continue reading «Enfermedades ligadas al X de especial relevancia neurogenética.»
Pseudogenes.
Mitochondrial diseases.
Mitochondrial diseases are a group of genetic disorders that affect the mitochondria, the cellular structures responsible for producing energy in the form of ATP (adenosine triphosphate). These diseases are caused by mutations in mitochondrial DNA or in nuclear genes that encode proteins related to mitochondrial function. Because mitochondria are…
Family history.
The collection of family history is a part of the anamnesis in which the individual is questioned about the presence of certain diseases in their ascendants or descendants. It is advisable to create a complete family tree, and it should include the kinship relationships of the different individuals, their sex, age and those phenotypic characteristics...
Phenotype-first approach, and genotype-first approach.
The "phenotype first approach" and the "genotype first approach" are two different approaches used in genetics and biology to study the relationship between genes (genotype) and the observable characteristics (phenotype) of an organism. The “phenotype first approach” focuses on the observation and study of the phenotypic characteristics of organisms…
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Cognitive biases, assumptions and prejudices in neurogenetics.
Since the completion of the human genome project, we have experienced a scientific revolution in the field of applied genetics, which is changing the scientific knowledge of those disciplines that are closely related at an unprecedented speed. Pediatric neurology is one of the most affected by this genomic revolution, due to the overrepresentation...
Continue reading «Sesgos cognitivos, asunciones y prejuicios en neurogenética.»
Newborn screening for SMA.
https://www.iislafe.es/es/sociedad/noticias/3163/la-fe-pondra-en-marcha-un-programa-piloto-de-cribado-neonatal-para-detectar-la-atrofia-muscular-espinal