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| Deafness_IsolatedAndComplex v1.154 | KMT2D | Zornitza Stark Marked gene: KMT2D as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.154 | KMT2D | Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.154 | KMT2D | Zornitza Stark Classified gene: KMT2D as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.154 | KMT2D | Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.153 | KMT2D |
Zornitza Stark gene: KMT2D was added gene: KMT2D was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to 31949313; 32083401 Phenotypes for gene: KMT2D were set to Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH), MIM#620186 Review for gene: KMT2D was set to GREEN Added comment: Note new association between missense variants located in a specific region of KMT2D spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism. - >10 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability. Sources: Expert Review |
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