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| Structural eye disease v1.103 | POLR1D | Arina Puzriakova Phenotypes for gene: POLR1D were changed from Treacher-Collins Syndrome 2, 613717 to Treacher Collins syndrome 2, OMIM:613717 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.102 | POLR1D | Arina Puzriakova Mode of inheritance for gene: POLR1D was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | POLR1D | Nicola Ragge reviewed gene: POLR1D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Treacher-Collins Syndrome 2, 613717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | POLR1D | Ivone Leong edited their review of gene: POLR1D: Changed phenotypes: Treacher-Collins Syndrome 2, 613717 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | POLR1D | Ivone Leong reviewed gene: POLR1D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Renpenning syndrome (can include microphthalmia/coloboma), 309500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | POLR1D |
Ivone Leong gene: POLR1D was added gene: POLR1D was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POLR1D were set to Treacher-Collins Syndrome 2, 613717 |
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