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Eye Anterior Segment Abnormalities v1.21 PITX2 upstream regulatory region Sarah Milton Tag SV/CNV was removed from Region: PITX2 upstream regulatory region.
Tag regulatory region was added to Region: PITX2 upstream regulatory region.
Eye Anterior Segment Abnormalities v1.19 Sarah Milton Copied Region PITX2 upstream regulatory region from panel Mendeliome
Eye Anterior Segment Abnormalities v1.19 PITX2 upstream regulatory region Sarah Milton Region: PITX2 upstream regulatory region was added
Region: PITX2 upstream regulatory region was added to Eye Anterior Segment Abnormalities. Sources: Literature
SV/CNV tags were added to Region: PITX2 upstream regulatory region.
Mode of inheritance for Region: PITX2 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: PITX2 upstream regulatory region were set to PMID: 20881290, 28911203, 14991915, 9480756
Phenotypes for Region: PITX2 upstream regulatory region were set to Axenfeld-Rieger syndrome, MONDO:0019187