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GENE - TERM ANNOTATION REPORT

RGD ID: 1617572
Species: Mus musculus
RGD Object: Gene
Symbol: Kat6b
Name: K(lysine) acetyltransferase 6B
Acc ID: DOID:0060290
Term: Ohdo syndrome, SBBYS variant
Definition: A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/22077973/ "DO" "DO", https://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes "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)
Kat6b ISOKAT6B (Homo sapiens)9588484RGDDNA:mutations:cds:multiple (human) 
Kat6b ISOKAT6B (Homo sapiens)7240710OMIM  
Kat6b ISOKAT6B (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Kat6b ISOKAT6B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Mental retardation unusual facies hypothyroidism | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo SyndromePMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 PMID:22715153 PMID:23236640 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:25741872 PMID:26334766 PMID:26938784 PMID:27696664 PMID:27848944 PMID:28191890 PMID:28492532 PMID:28758091 PMID:28857140 PMID:30353918 PMID:30569622 PMID:32424177 PMID:8055130
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