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| Anophthalmia or microphthalmia v1.23 | KMT2D |
Julia Baptista changed review comment from: One Irish male reported with a de novo KMT2A variant and bilateral extreme microphthalmia (PMID: 26049589). An additional proband was reported with bilateral microphthalmia (PMID: 27530281). Sources: Literature; to: One Irish male reported with a de novo KMT2D variant and bilateral extreme microphthalmia (PMID: 26049589). An additional proband was reported with bilateral microphthalmia (PMID: 27530281). Sources: Literature |
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| Anophthalmia or microphthalmia v1.20 | KMT2D | Ivone Leong Classified gene: KMT2D as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.20 | KMT2D | Ivone Leong Added comment: Comment on list classification: Added to the panel as a Green gene. KMT2D is associated to a phenotype in both OMIM and Gene2Phenotype. There is sufficient evidence to support gene-disease phenotype for this gene and the Clinical team at Genomics England agrees that this gene is relevant for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.20 | KMT2D | Ivone Leong Gene: kmt2d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.19 | KMT2D | Ivone Leong Phenotypes for gene: KMT2D were changed from microphthalmia to microphthalmia; Kabuki syndrome 1, 147920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.18 | KMT2D | Ivone Leong Publications for gene: KMT2D were set to PMID: 26049589; 27530281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.17 | KMT2D |
Julia Baptista gene: KMT2D was added gene: KMT2D was added to Anophthalmia or microphthalmia. Sources: Literature Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to PMID: 26049589; 27530281 Phenotypes for gene: KMT2D were set to microphthalmia Penetrance for gene: KMT2D were set to Complete Review for gene: KMT2D was set to GREEN gene: KMT2D was marked as current diagnostic Added comment: One Irish male reported with a de novo KMT2A variant and bilateral extreme microphthalmia (PMID: 26049589). An additional proband was reported with bilateral microphthalmia (PMID: 27530281). Sources: Literature |
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