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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. |
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| 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 |
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| Eye Anterior Segment Abnormalities v0.42 | PITX2 | Zornitza Stark Marked gene: PITX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.42 | PITX2 | Zornitza Stark Gene: pitx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.42 | PITX2 | Zornitza Stark Phenotypes for gene: PITX2 were changed from to Anterior segment dysgenesis 4, MIM# 137600; Axenfeld-Rieger syndrome, type 1, MIM# 180500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.41 | PITX2 | Zornitza Stark Publications for gene: PITX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.40 | PITX2 | Zornitza Stark Mode of inheritance for gene: PITX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.39 | PITX2 | Zornitza Stark reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499604, 32400113, 31341655, 31185933, 30457409; Phenotypes: Anterior segment dysgenesis 4, MIM# 137600, Axenfeld-Rieger syndrome, type 1, MIM# 180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.0 | PITX2 |
Zornitza Stark gene: PITX2 was added gene: PITX2 was added to Eye Anterior Segment Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PITX2 was set to Unknown |
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