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| Structural eye disease v0.76 | TFAP2A | Nicola Ragge reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18423521, 19685247 ; Phenotypes: Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | TFAP2A | Ivone Leong edited their review of gene: TFAP2A: Changed phenotypes: Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | TFAP2A | Ivone Leong reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18423521, 19685247 ; Phenotypes: Mohr-Tranebjaerg syndrome, 304700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | TFAP2A |
Ivone Leong Source NHS GMS was added to TFAP2A. Source Expert Review Green was added to TFAP2A. Added phenotypes Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620 for gene: TFAP2A Publications for gene TFAP2A were changed from 10767004, 18423521 to 19685247; 18423521 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Structural eye disease v0.2 | TFAP2A |
Ellen McDonagh gene: TFAP2A was added gene: TFAP2A was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TFAP2A were set to 10767004, 18423521 Phenotypes for gene: TFAP2A were set to Branchiooculofacial syndrome , 113620 |
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