Web15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and ... WebPlease note that Gene Curation is a comprehensive volunteer activity and on average, 8-10 hours of effort is required each month. For questions about existing materials or requests for new materials, contact us at [email protected]. Training Modules. Additional Supporting Materials.

VCV000006517.1 - ClinVar - NCBI

WebSHANK2 (HGNC:14295) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar HGNC Name SH3 and multiple ankyrin repeat domains 2 Gene type ... cool baseball fields

Geisinger DBD Genes Database

WebSHANK2. SH3 and multiple ankyrin repeat domains protein 2 is a protein that in humans is encoded by the SHANK2 gene. [5] [6] Two alternative splice variants, encoding distinct … WebHere, as part of the ClinGen Sequence Variant Interpretation (SVI) Workgroup's goal of refining ACMG/AMP criteria, we provide recommendations for applying the PVS1 criterion using detailed guidance addressing the above-mentioned gaps. Evaluation of the refined criterion by seven disease-specific groups using heterogeneous types of loss of ... WebThe ClinGen Sequence Variant Interpretation Working Group has published a recommendation that for BA1, the sequence guideline evidence category about population frequency that can result in a variant being automatically classified as benign, the frequency can be from any continental population with >2000 alleles tested, and that your patient ... family life hapeville