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GENE - TERM ANNOTATION REPORT

RGD ID: 1602007
Species: Homo sapiens
RGD Object: Gene
Symbol: TBC1D22A
Name: TBC1 domain family member 22A
Acc ID: DOID:0080354
Term: Phelan-McDermid syndrome
Definition: A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/22q13_deletion_syndrome "DO" "DO", https://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1198/ "DO" "DO", ORDO:48652 "DO" "DO", PMID:29719671 "DO" "DO", PMID:29896732 "DO" "DO", PMID:30089781 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
TBC1D22A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Phelan-McDermid syndrome 
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