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| Deafness_IsolatedAndComplex v1.193 | PTPN11 | Chirag Patel Classified gene: PTPN11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.193 | PTPN11 | Chirag Patel Gene: ptpn11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.191 | PTPN11 |
Chirag Patel gene: PTPN11 was added gene: PTPN11 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN11 were set to PMID: 20301557, 32737134 Phenotypes for gene: PTPN11 were set to Noonan Syndrome with Multiple Lentigines, OMIM # 151100 Review for gene: PTPN11 was set to GREEN gene: PTPN11 was marked as current diagnostic Added comment: Established gene-disease association. Sensorineural hearing loss is present in ~20% of 'Noonan Syndrome with Multiple Lentigines' Sources: Literature |
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