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Choanal atresia v1.13 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Choanal atresia. Sources: Literature
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 31949313
Phenotypes for gene: KMT2D were set to KMT2D-associated neurodevelopmental syndrome
Review for gene: KMT2D was set to GREEN
gene: KMT2D was marked as current diagnostic
Added comment: The association between LoF variants in KMT2D and Kabuki syndrome is well established. Note new association between missense variants located in a specific region 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. 7 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: Literature
Choanal atresia USP9X Sarah Leigh classified USP9X as Green List (high evidence)
Choanal atresia USP9X Zornitza Stark reviewed gene: USP9X
Choanal atresia USP9X Katharina Steindl Added gene to panel
Choanal atresia SALL4 Sarah Leigh classified SALL4 as red
Choanal atresia SALL4 Sarah Leigh added SALL4 to panel
Choanal atresia SALL4 Sarah Leigh reviewed SALL4
Choanal atresia Sarah Leigh promoted panel to version 1
Choanal atresia SPINT2 Sarah Leigh marked SPINT2 as ready
Choanal atresia SPINT2 Sarah Leigh classified SPINT2 as green
Choanal atresia SPINT2 Sarah Leigh added SPINT2 to panel
Choanal atresia SPINT2 Sarah Leigh reviewed SPINT2
Choanal atresia SEMA3E Sarah Leigh marked SEMA3E as ready
Choanal atresia SEMA3E Sarah Leigh commented on SEMA3E
Choanal atresia FGFR3 Sarah Leigh marked FGFR3 as ready
Choanal atresia FGFR3 Sarah Leigh classified FGFR3 as green
Choanal atresia FGFR3 Sarah Leigh commented on FGFR3
Choanal atresia FGFR3 Sarah Leigh classified FGFR3 as red
Choanal atresia FGFR2 Sarah Leigh marked FGFR2 as ready
Choanal atresia FGFR2 Sarah Leigh commented on FGFR2
Choanal atresia PTPN14 Sarah Leigh marked PTPN14 as ready
Choanal atresia PTPN14 Sarah Leigh commented on PTPN14
Choanal atresia TXNL4A Sarah Leigh marked TXNL4A as ready
Choanal atresia TXNL4A Sarah Leigh commented on TXNL4A
Choanal atresia TXNL4A Sarah Leigh classified TXNL4A as green
Choanal atresia FOXE1 Sarah Leigh marked FOXE1 as ready
Choanal atresia FOXE1 Sarah Leigh commented on FOXE1
Choanal atresia FOXE1 Sarah Leigh classified FOXE1 as green
Choanal atresia FAM20C Sarah Leigh marked FAM20C as ready
Choanal atresia FAM20C Sarah Leigh commented on FAM20C
Choanal atresia FAM20C Sarah Leigh classified FAM20C as green
Choanal atresia EFTUD2 Sarah Leigh marked EFTUD2 as ready
Choanal atresia EFTUD2 Sarah Leigh commented on EFTUD2
Choanal atresia EFTUD2 Sarah Leigh classified EFTUD2 as green
Choanal atresia CHD7 Sarah Leigh marked CHD7 as ready
Choanal atresia CHD7 Sarah Leigh commented on CHD7