Activity
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3000 actions
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| DDG2P v0.2 | PRKD1 | Rebecca Foulger reviewed gene: PRKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PRKAR1A | Rebecca Foulger reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PREPL | Rebecca Foulger reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PRDM6 | Rebecca Foulger reviewed gene: PRDM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PRDM12 | Rebecca Foulger reviewed gene: PRDM12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PQBP1 | Rebecca Foulger reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PPT1 | Rebecca Foulger reviewed gene: PPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PPP3CA | Rebecca Foulger reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PPP2R5D | Rebecca Foulger reviewed gene: PPP2R5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PPP2R1A | Rebecca Foulger reviewed gene: PPP2R1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PPP1R15B | Rebecca Foulger reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PPP1CB | Rebecca Foulger reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PPM1D | Rebecca Foulger reviewed gene: PPM1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PPA2 | Rebecca Foulger reviewed gene: PPA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POU1F1 | Rebecca Foulger reviewed gene: POU1F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POT1 | Rebecca Foulger reviewed gene: POT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PORCN | Rebecca Foulger reviewed gene: PORCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POMT2 | Rebecca Foulger reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POMT1 | Rebecca Foulger reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POMP | Rebecca Foulger reviewed gene: POMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POMGNT2 | Rebecca Foulger reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POMGNT1 | Rebecca Foulger reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POLR3B | Rebecca Foulger reviewed gene: POLR3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POLR3A | Rebecca Foulger reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POLR1D | Rebecca Foulger reviewed gene: POLR1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POLR1C | Rebecca Foulger reviewed gene: POLR1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POLR1A | Rebecca Foulger reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POLG | Rebecca Foulger reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POLD1 | Rebecca Foulger reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POGZ | Rebecca Foulger reviewed gene: POGZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POC1B | Rebecca Foulger reviewed gene: POC1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POC1A | Rebecca Foulger reviewed gene: POC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PNPT1 | Rebecca Foulger reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PNPLA2 | Rebecca Foulger reviewed gene: PNPLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PNPLA1 | Rebecca Foulger reviewed gene: PNPLA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PNKP | Rebecca Foulger reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PMS2 | Rebecca Foulger reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PMM2 | Rebecca Foulger reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PLXND1 | Rebecca Foulger reviewed gene: PLXND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PLPBP | Rebecca Foulger reviewed gene: PLPBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PLP1 | Rebecca Foulger reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PLOD3 | Rebecca Foulger reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PLOD2 | Rebecca Foulger reviewed gene: PLOD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PLOD1 | Rebecca Foulger reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PLK4 | Rebecca Foulger reviewed gene: PLK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PLEC | Rebecca Foulger reviewed gene: PLEC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PLCG2 | Rebecca Foulger reviewed gene: PLCG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PLCE1 | Rebecca Foulger reviewed gene: PLCE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PLCB4 | Rebecca Foulger reviewed gene: PLCB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PLCB1 | Rebecca Foulger reviewed gene: PLCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PLAA | Rebecca Foulger reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PLA2G6 | Rebecca Foulger reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PKHD1 | Rebecca Foulger reviewed gene: PKHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PKD1L1 | Rebecca Foulger reviewed gene: PKD1L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PITX3 | Rebecca Foulger reviewed gene: PITX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PITX2 | Rebecca Foulger reviewed gene: PITX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PITX1 | Rebecca Foulger reviewed gene: PITX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIP5K1C | Rebecca Foulger reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIK3R2 | Rebecca Foulger reviewed gene: PIK3R2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIK3R1 | Rebecca Foulger reviewed gene: PIK3R1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIK3CA | Rebecca Foulger reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIH1D3 | Rebecca Foulger reviewed gene: PIH1D3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIGY | Rebecca Foulger reviewed gene: PIGY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIGW | Rebecca Foulger reviewed gene: PIGW: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIGV | Rebecca Foulger reviewed gene: PIGV: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIGT | Rebecca Foulger reviewed gene: PIGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIGQ | Rebecca Foulger reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIGO | Rebecca Foulger reviewed gene: PIGO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIGN | Rebecca Foulger reviewed gene: PIGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIGM | Rebecca Foulger reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIGL | Rebecca Foulger reviewed gene: PIGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIGG | Rebecca Foulger reviewed gene: PIGG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIGA | Rebecca Foulger reviewed gene: PIGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIEZO2 | Rebecca Foulger reviewed gene: PIEZO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIEZO1 | Rebecca Foulger reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PHOX2B | Rebecca Foulger reviewed gene: PHOX2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PHIP | Rebecca Foulger reviewed gene: PHIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PHGDH | Rebecca Foulger reviewed gene: PHGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PHF8 | Rebecca Foulger reviewed gene: PHF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PHF6 | Rebecca Foulger reviewed gene: PHF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PHF21A | Rebecca Foulger reviewed gene: PHF21A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PHC1 | Rebecca Foulger reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PGM3 | Rebecca Foulger reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PGM1 | Rebecca Foulger reviewed gene: PGM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PGK1 | Rebecca Foulger reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PGAP3 | Rebecca Foulger reviewed gene: PGAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PGAP2 | Rebecca Foulger reviewed gene: PGAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PGAP1 | Rebecca Foulger reviewed gene: PGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX7 | Rebecca Foulger reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX6 | Rebecca Foulger reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX5 | Rebecca Foulger reviewed gene: PEX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX3 | Rebecca Foulger reviewed gene: PEX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX26 | Rebecca Foulger reviewed gene: PEX26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX2 | Rebecca Foulger reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX19 | Rebecca Foulger reviewed gene: PEX19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX16 | Rebecca Foulger reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX14 | Rebecca Foulger reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX13 | Rebecca Foulger reviewed gene: PEX13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX12 | Rebecca Foulger reviewed gene: PEX12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX11B | Rebecca Foulger reviewed gene: PEX11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX10 | Rebecca Foulger reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX1 | Rebecca Foulger reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PET100 | Rebecca Foulger reviewed gene: PET100: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEPD | Rebecca Foulger reviewed gene: PEPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PECR | Rebecca Foulger reviewed gene: PECR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PDSS2 | Rebecca Foulger reviewed gene: PDSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PDSS1 | Rebecca Foulger reviewed gene: PDSS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PDHX | Rebecca Foulger reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PDHA1 | Rebecca Foulger reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PDGFRB | Rebecca Foulger reviewed gene: PDGFRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PDE6H | Rebecca Foulger reviewed gene: PDE6H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PDE6G | Rebecca Foulger reviewed gene: PDE6G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PDE4D | Rebecca Foulger reviewed gene: PDE4D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PDE10A | Rebecca Foulger reviewed gene: PDE10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PDCD10 | Rebecca Foulger reviewed gene: PDCD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PCYT1A | Rebecca Foulger reviewed gene: PCYT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PCNT | Rebecca Foulger reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PCGF2 | Rebecca Foulger reviewed gene: PCGF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PCDH19 | Rebecca Foulger reviewed gene: PCDH19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PCCB | Rebecca Foulger reviewed gene: PCCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PCCA | Rebecca Foulger reviewed gene: PCCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PCBD1 | Rebecca Foulger reviewed gene: PCBD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PC | Rebecca Foulger reviewed gene: PC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PAX9 | Rebecca Foulger reviewed gene: PAX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PAX8 | Rebecca Foulger reviewed gene: PAX8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PAX6 | Rebecca Foulger reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PAX3 | Rebecca Foulger reviewed gene: PAX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PAX2 | Rebecca Foulger reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PARP1 | Rebecca Foulger reviewed gene: PARP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PARN | Rebecca Foulger reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PAPSS2 | Rebecca Foulger reviewed gene: PAPSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PALB2 | Rebecca Foulger reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PAK3 | Rebecca Foulger reviewed gene: PAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PAH | Rebecca Foulger reviewed gene: PAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PAFAH1B1 | Rebecca Foulger reviewed gene: PAFAH1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PACS2 | Rebecca Foulger reviewed gene: PACS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PACS1 | Rebecca Foulger reviewed gene: PACS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | P4HB | Rebecca Foulger reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | P3H1 | Rebecca Foulger reviewed gene: P3H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | OXCT1 | Rebecca Foulger reviewed gene: OXCT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | OTX2 | Rebecca Foulger reviewed gene: OTX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | OTULIN | Rebecca Foulger reviewed gene: OTULIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | OTUD7A | Rebecca Foulger reviewed gene: OTUD7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | OTUD6B | Rebecca Foulger reviewed gene: OTUD6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | OTOGL | Rebecca Foulger reviewed gene: OTOGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | OTC | Rebecca Foulger reviewed gene: OTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | OSGEP | Rebecca Foulger reviewed gene: OSGEP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ORC6 | Rebecca Foulger reviewed gene: ORC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ORC4 | Rebecca Foulger reviewed gene: ORC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ORC1 | Rebecca Foulger reviewed gene: ORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | OPHN1 | Rebecca Foulger reviewed gene: OPHN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | OFD1 | Rebecca Foulger reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | OCRL | Rebecca Foulger reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | OBSL1 | Rebecca Foulger reviewed gene: OBSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NYX | Rebecca Foulger reviewed gene: NYX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NUS1 | Rebecca Foulger reviewed gene: NUS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NUP62 | Rebecca Foulger reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NUP107 | Rebecca Foulger reviewed gene: NUP107: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NUBPL | Rebecca Foulger reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NTRK2 | Rebecca Foulger reviewed gene: NTRK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NTRK1 | Rebecca Foulger reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NT5C3A | Rebecca Foulger reviewed gene: NT5C3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NSUN2 | Rebecca Foulger reviewed gene: NSUN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NSMCE3 | Rebecca Foulger reviewed gene: NSMCE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NSDHL | Rebecca Foulger reviewed gene: NSDHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NSD1 | Rebecca Foulger reviewed gene: NSD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NRXN3 | Rebecca Foulger reviewed gene: NRXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NRXN2 | Rebecca Foulger reviewed gene: NRXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NRXN1 | Rebecca Foulger reviewed gene: NRXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NRAS | Rebecca Foulger reviewed gene: NRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NR5A1 | Rebecca Foulger reviewed gene: NR5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NR2F2 | Rebecca Foulger reviewed gene: NR2F2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NR2F1 | Rebecca Foulger reviewed gene: NR2F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NR1I3 | Rebecca Foulger reviewed gene: NR1I3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NPR2 | Rebecca Foulger reviewed gene: NPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NPHS2 | Rebecca Foulger reviewed gene: NPHS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NPHS1 | Rebecca Foulger reviewed gene: NPHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NPHP4 | Rebecca Foulger reviewed gene: NPHP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NPHP3 | Rebecca Foulger reviewed gene: NPHP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NPHP1 | Rebecca Foulger reviewed gene: NPHP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NPC2 | Rebecca Foulger reviewed gene: NPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NPC1 | Rebecca Foulger reviewed gene: NPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NOVA2 | Rebecca Foulger reviewed gene: NOVA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NOTCH3 | Rebecca Foulger reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NOTCH2 | Rebecca Foulger reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NOTCH1 | Rebecca Foulger reviewed gene: NOTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NOP10 | Rebecca Foulger reviewed gene: NOP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NONO | Rebecca Foulger reviewed gene: NONO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NOG | Rebecca Foulger reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NODAL | Rebecca Foulger reviewed gene: NODAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NMNAT1 | Rebecca Foulger reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NLRP5 | Rebecca Foulger reviewed gene: NLRP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NLGN4X | Rebecca Foulger reviewed gene: NLGN4X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NLGN3 | Rebecca Foulger reviewed gene: NLGN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NKX6-2 | Rebecca Foulger reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NKX3-2 | Rebecca Foulger reviewed gene: NKX3-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NKX2-5 | Rebecca Foulger reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NKX2-1 | Rebecca Foulger reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NIPBL | Rebecca Foulger reviewed gene: NIPBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NHS | Rebecca Foulger reviewed gene: NHS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NHP2 | Rebecca Foulger reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NGLY1 | Rebecca Foulger reviewed gene: NGLY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NFU1 | Rebecca Foulger reviewed gene: NFU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NFIX | Rebecca Foulger reviewed gene: NFIX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NFIA | Rebecca Foulger reviewed gene: NFIA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NF1 | Rebecca Foulger reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NEXMIF | Rebecca Foulger reviewed gene: NEXMIF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NEU1 | Rebecca Foulger reviewed gene: NEU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NEK8 | Rebecca Foulger reviewed gene: NEK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NEK1 | Rebecca Foulger reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NEDD4L | Rebecca Foulger reviewed gene: NEDD4L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NECTIN4 | Rebecca Foulger reviewed gene: NECTIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NECTIN1 | Rebecca Foulger reviewed gene: NECTIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NEB | Rebecca Foulger reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDUFV1 | Rebecca Foulger reviewed gene: NDUFV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDUFS8 | Rebecca Foulger reviewed gene: NDUFS8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDUFS7 | Rebecca Foulger reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDUFS4 | Rebecca Foulger reviewed gene: NDUFS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDUFS1 | Rebecca Foulger reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDUFB11 | Rebecca Foulger reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDUFAF2 | Rebecca Foulger reviewed gene: NDUFAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDUFA9 | Rebecca Foulger reviewed gene: NDUFA9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDUFA10 | Rebecca Foulger reviewed gene: NDUFA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDUFA1 | Rebecca Foulger reviewed gene: NDUFA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDST1 | Rebecca Foulger reviewed gene: NDST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDP | Rebecca Foulger reviewed gene: NDP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NDE1 | Rebecca Foulger reviewed gene: NDE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NCAPH | Rebecca Foulger reviewed gene: NCAPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NCAPD3 | Rebecca Foulger reviewed gene: NCAPD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NCAPD2 | Rebecca Foulger reviewed gene: NCAPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NBN | Rebecca Foulger reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NBAS | Rebecca Foulger reviewed gene: NBAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NAXE | Rebecca Foulger reviewed gene: NAXE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NANS | Rebecca Foulger reviewed gene: NANS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NALCN | Rebecca Foulger reviewed gene: NALCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NAGS | Rebecca Foulger reviewed gene: NAGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NAGLU | Rebecca Foulger reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NAGA | Rebecca Foulger reviewed gene: NAGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NADK2 | Rebecca Foulger reviewed gene: NADK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NACC1 | Rebecca Foulger reviewed gene: NACC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NAA15 | Rebecca Foulger reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NAA10 | Rebecca Foulger reviewed gene: NAA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYT1L | Rebecca Foulger reviewed gene: MYT1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYT1 | Rebecca Foulger reviewed gene: MYT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYPN | Rebecca Foulger reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYOC | Rebecca Foulger reviewed gene: MYOC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYO7A | Rebecca Foulger reviewed gene: MYO7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYO5B | Rebecca Foulger reviewed gene: MYO5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYO5A | Rebecca Foulger reviewed gene: MYO5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYLK | Rebecca Foulger reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYH9 | Rebecca Foulger reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYH8 | Rebecca Foulger reviewed gene: MYH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYH6 | Rebecca Foulger reviewed gene: MYH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYH3 | Rebecca Foulger reviewed gene: MYH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYH11 | Rebecca Foulger reviewed gene: MYH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYH10 | Rebecca Foulger reviewed gene: MYH10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYCN | Rebecca Foulger reviewed gene: MYCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MUT | Rebecca Foulger reviewed gene: MUT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MT-TP | Rebecca Foulger reviewed gene: MT-TP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MTRR | Rebecca Foulger reviewed gene: MTRR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MTR | Rebecca Foulger reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MTOR | Rebecca Foulger reviewed gene: MTOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MTO1 | Rebecca Foulger reviewed gene: MTO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MTMR14 | Rebecca Foulger reviewed gene: MTMR14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MTM1 | Rebecca Foulger reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MTHFR | Rebecca Foulger reviewed gene: MTHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MTF1 | Rebecca Foulger reviewed gene: MTF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MSX2 | Rebecca Foulger reviewed gene: MSX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MSX1 | Rebecca Foulger reviewed gene: MSX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MSL3 | Rebecca Foulger reviewed gene: MSL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MSI1 | Rebecca Foulger reviewed gene: MSI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MRPS34 | Rebecca Foulger reviewed gene: MRPS34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MRPS22 | Rebecca Foulger reviewed gene: MRPS22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MRE11 | Rebecca Foulger reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MPV17 | Rebecca Foulger reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MPLKIP | Rebecca Foulger reviewed gene: MPLKIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MPI | Rebecca Foulger reviewed gene: MPI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MPDZ | Rebecca Foulger reviewed gene: MPDZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MPDU1 | Rebecca Foulger reviewed gene: MPDU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MORC2 | Rebecca Foulger reviewed gene: MORC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MOGS | Rebecca Foulger reviewed gene: MOGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MOCS2 | Rebecca Foulger reviewed gene: MOCS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MOCS1 | Rebecca Foulger reviewed gene: MOCS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MNX1 | Rebecca Foulger reviewed gene: MNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MMP21 | Rebecca Foulger reviewed gene: MMP21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MMP14 | Rebecca Foulger reviewed gene: MMP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MMP13 | Rebecca Foulger reviewed gene: MMP13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MMADHC | Rebecca Foulger reviewed gene: MMADHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MMACHC | Rebecca Foulger reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MMAB | Rebecca Foulger reviewed gene: MMAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MMAA | Rebecca Foulger reviewed gene: MMAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MLYCD | Rebecca Foulger reviewed gene: MLYCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MLC1 | Rebecca Foulger reviewed gene: MLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MKS1 | Rebecca Foulger reviewed gene: MKS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MKKS | Rebecca Foulger reviewed gene: MKKS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MITF | Rebecca Foulger reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MIR184 | Rebecca Foulger reviewed gene: MIR184: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MIR17HG | Rebecca Foulger reviewed gene: MIR17HG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MID1 | Rebecca Foulger reviewed gene: MID1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MICU1 | Rebecca Foulger reviewed gene: MICU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MGP | Rebecca Foulger reviewed gene: MGP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MGAT2 | Rebecca Foulger reviewed gene: MGAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MFSD8 | Rebecca Foulger reviewed gene: MFSD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MFSD2A | Rebecca Foulger reviewed gene: MFSD2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MFRP | Rebecca Foulger reviewed gene: MFRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MESP2 | Rebecca Foulger reviewed gene: MESP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MEOX1 | Rebecca Foulger reviewed gene: MEOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MEGF8 | Rebecca Foulger reviewed gene: MEGF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MEGF10 | Rebecca Foulger reviewed gene: MEGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MEF2C | Rebecca Foulger reviewed gene: MEF2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MED23 | Rebecca Foulger reviewed gene: MED23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MED17 | Rebecca Foulger reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MED13L | Rebecca Foulger reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MED12 | Rebecca Foulger reviewed gene: MED12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MECR | Rebecca Foulger reviewed gene: MECR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MECP2 | Rebecca Foulger reviewed gene: MECP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MECOM | Rebecca Foulger reviewed gene: MECOM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MDH2 | Rebecca Foulger reviewed gene: MDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MCPH1 | Rebecca Foulger reviewed gene: MCPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MCOLN1 | Rebecca Foulger reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MCEE | Rebecca Foulger reviewed gene: MCEE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MCCC2 | Rebecca Foulger reviewed gene: MCCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MCCC1 | Rebecca Foulger reviewed gene: MCCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MC2R | Rebecca Foulger reviewed gene: MC2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MBOAT7 | Rebecca Foulger reviewed gene: MBOAT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MBD5 | Rebecca Foulger reviewed gene: MBD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MATN3 | Rebecca Foulger reviewed gene: MATN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAT1A | Rebecca Foulger reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MASP1 | Rebecca Foulger reviewed gene: MASP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAPRE2 | Rebecca Foulger reviewed gene: MAPRE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAPK10 | Rebecca Foulger reviewed gene: MAPK10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAP3K7 | Rebecca Foulger reviewed gene: MAP3K7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAP3K1 | Rebecca Foulger reviewed gene: MAP3K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAP2K2 | Rebecca Foulger reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAP2K1 | Rebecca Foulger reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAOA | Rebecca Foulger reviewed gene: MAOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MANBA | Rebecca Foulger reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAN2B1 | Rebecca Foulger reviewed gene: MAN2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAN1B1 | Rebecca Foulger reviewed gene: MAN1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAMLD1 | Rebecca Foulger reviewed gene: MAMLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAGT1 | Rebecca Foulger reviewed gene: MAGT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAGI2 | Rebecca Foulger reviewed gene: MAGI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAGEL2 | Rebecca Foulger reviewed gene: MAGEL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAFB | Rebecca Foulger reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAF | Rebecca Foulger reviewed gene: MAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAB21L2 | Rebecca Foulger reviewed gene: MAB21L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LYST | Rebecca Foulger reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LTBP3 | Rebecca Foulger reviewed gene: LTBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LTBP2 | Rebecca Foulger reviewed gene: LTBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LRRC6 | Rebecca Foulger reviewed gene: LRRC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LRPPRC | Rebecca Foulger reviewed gene: LRPPRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LRPAP1 | Rebecca Foulger reviewed gene: LRPAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LRP6 | Rebecca Foulger reviewed gene: LRP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LRP5 | Rebecca Foulger reviewed gene: LRP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LRP4 | Rebecca Foulger reviewed gene: LRP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LRP2 | Rebecca Foulger reviewed gene: LRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LRIT3 | Rebecca Foulger reviewed gene: LRIT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LRIG2 | Rebecca Foulger reviewed gene: LRIG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LRBA | Rebecca Foulger reviewed gene: LRBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LRAT | Rebecca Foulger reviewed gene: LRAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LONP1 | Rebecca Foulger reviewed gene: LONP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LMX1B | Rebecca Foulger reviewed gene: LMX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LMNA | Rebecca Foulger reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LMBRD1 | Rebecca Foulger reviewed gene: LMBRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LIPT2 | Rebecca Foulger reviewed gene: LIPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LIPT1 | Rebecca Foulger reviewed gene: LIPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LIPN | Rebecca Foulger reviewed gene: LIPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LINS1 | Rebecca Foulger reviewed gene: LINS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LIG4 | Rebecca Foulger reviewed gene: LIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LIAS | Rebecca Foulger reviewed gene: LIAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LHX4 | Rebecca Foulger reviewed gene: LHX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LHX3 | Rebecca Foulger reviewed gene: LHX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LGI4 | Rebecca Foulger reviewed gene: LGI4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LGI1 | Rebecca Foulger reviewed gene: LGI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LFNG | Rebecca Foulger reviewed gene: LFNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LEMD3 | Rebecca Foulger reviewed gene: LEMD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LEFTY2 | Rebecca Foulger reviewed gene: LEFTY2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LDB3 | Rebecca Foulger reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LBR | Rebecca Foulger reviewed gene: LBR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LAS1L | Rebecca Foulger reviewed gene: LAS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LARS2 | Rebecca Foulger reviewed gene: LARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LARP7 | Rebecca Foulger reviewed gene: LARP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LARGE1 | Rebecca Foulger reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LAMP2 | Rebecca Foulger reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LAMC3 | Rebecca Foulger reviewed gene: LAMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LAMB1 | Rebecca Foulger reviewed gene: LAMB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LAMA2 | Rebecca Foulger reviewed gene: LAMA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LAMA1 | Rebecca Foulger reviewed gene: LAMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | L2HGDH | Rebecca Foulger reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | L1CAM | Rebecca Foulger reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KRT74 | Rebecca Foulger reviewed gene: KRT74: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KRIT1 | Rebecca Foulger reviewed gene: KRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KRAS | Rebecca Foulger reviewed gene: KRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KPTN | Rebecca Foulger reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KPNA7 | Rebecca Foulger reviewed gene: KPNA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KMT5B | Rebecca Foulger reviewed gene: KMT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KMT2E | Rebecca Foulger reviewed gene: KMT2E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KMT2D | Rebecca Foulger reviewed gene: KMT2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KMT2C | Rebecca Foulger reviewed gene: KMT2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KMT2B | Rebecca Foulger reviewed gene: KMT2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KMT2A | Rebecca Foulger reviewed gene: KMT2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KLHL7 | Rebecca Foulger reviewed gene: KLHL7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KLHL40 | Rebecca Foulger reviewed gene: KLHL40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KLHL15 | Rebecca Foulger reviewed gene: KLHL15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KLF8 | Rebecca Foulger reviewed gene: KLF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KLF1 | Rebecca Foulger reviewed gene: KLF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KITLG | Rebecca Foulger reviewed gene: KITLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KIT | Rebecca Foulger reviewed gene: KIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KIRREL3 | Rebecca Foulger reviewed gene: KIRREL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KIF7 | Rebecca Foulger reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KIF5C | Rebecca Foulger reviewed gene: KIF5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KIF4A | Rebecca Foulger reviewed gene: KIF4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KIF2A | Rebecca Foulger reviewed gene: KIF2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KIF22 | Rebecca Foulger reviewed gene: KIF22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KIF1BP | Rebecca Foulger reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KIF1A | Rebecca Foulger reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KIF11 | Rebecca Foulger reviewed gene: KIF11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KIDINS220 | Rebecca Foulger reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KIAA1109 | Rebecca Foulger reviewed gene: KIAA1109: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KIAA0586 | Rebecca Foulger reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KDM6B | Rebecca Foulger reviewed gene: KDM6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KDM6A | Rebecca Foulger reviewed gene: KDM6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KDM5C | Rebecca Foulger reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KDM5B | Rebecca Foulger reviewed gene: KDM5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KDM5A | Rebecca Foulger reviewed gene: KDM5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KDM1A | Rebecca Foulger reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCTD7 | Rebecca Foulger reviewed gene: KCTD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCTD1 | Rebecca Foulger reviewed gene: KCTD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNT1 | Rebecca Foulger reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNQ5 | Rebecca Foulger reviewed gene: KCNQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNQ3 | Rebecca Foulger reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNQ2 | Rebecca Foulger reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNQ1 | Rebecca Foulger reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNMA1 | Rebecca Foulger reviewed gene: KCNMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNK9 | Rebecca Foulger reviewed gene: KCNK9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNJ6 | Rebecca Foulger reviewed gene: KCNJ6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNJ11 | Rebecca Foulger reviewed gene: KCNJ11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNJ10 | Rebecca Foulger reviewed gene: KCNJ10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNH5 | Rebecca Foulger reviewed gene: KCNH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNH1 | Rebecca Foulger reviewed gene: KCNH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNE1 | Rebecca Foulger reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNC3 | Rebecca Foulger reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNC1 | Rebecca Foulger reviewed gene: KCNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNB1 | Rebecca Foulger reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KCNA2 | Rebecca Foulger reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KBTBD13 | Rebecca Foulger reviewed gene: KBTBD13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KAT6B | Rebecca Foulger reviewed gene: KAT6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KAT6A | Rebecca Foulger reviewed gene: KAT6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KARS | Rebecca Foulger reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KANSL1 | Rebecca Foulger reviewed gene: KANSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KANK1 | Rebecca Foulger reviewed gene: KANK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | JAM3 | Rebecca Foulger reviewed gene: JAM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | JAK3 | Rebecca Foulger reviewed gene: JAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | JAGN1 | Rebecca Foulger reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | JAG1 | Rebecca Foulger reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IVD | Rebecca Foulger reviewed gene: IVD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ITPR1 | Rebecca Foulger reviewed gene: ITPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ITGA8 | Rebecca Foulger reviewed gene: ITGA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ITGA7 | Rebecca Foulger reviewed gene: ITGA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ITGA6 | Rebecca Foulger reviewed gene: ITGA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ITGA3 | Rebecca Foulger reviewed gene: ITGA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ITCH | Rebecca Foulger reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ISPD | Rebecca Foulger reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IRX5 | Rebecca Foulger reviewed gene: IRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IRF6 | Rebecca Foulger reviewed gene: IRF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IQSEC2 | Rebecca Foulger reviewed gene: IQSEC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | INPPL1 | Rebecca Foulger reviewed gene: INPPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | INPP5K | Rebecca Foulger reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | INPP5E | Rebecca Foulger reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | INPP4A | Rebecca Foulger reviewed gene: INPP4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IMPAD1 | Rebecca Foulger reviewed gene: IMPAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IL1RAPL1 | Rebecca Foulger reviewed gene: IL1RAPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IL11RA | Rebecca Foulger reviewed gene: IL11RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IL11 | Rebecca Foulger reviewed gene: IL11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IKBKG | Rebecca Foulger reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IHH | Rebecca Foulger reviewed gene: IHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IGSF1 | Rebecca Foulger reviewed gene: IGSF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IGHMBP2 | Rebecca Foulger reviewed gene: IGHMBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IGFBP7 | Rebecca Foulger reviewed gene: IGFBP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IGF2 | Rebecca Foulger reviewed gene: IGF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IGF1R | Rebecca Foulger reviewed gene: IGF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IGF1 | Rebecca Foulger reviewed gene: IGF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IGBP1 | Rebecca Foulger reviewed gene: IGBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IFT80 | Rebecca Foulger reviewed gene: IFT80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IFT43 | Rebecca Foulger reviewed gene: IFT43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IFT172 | Rebecca Foulger reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IFT140 | Rebecca Foulger reviewed gene: IFT140: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IFT122 | Rebecca Foulger reviewed gene: IFT122: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IFITM5 | Rebecca Foulger reviewed gene: IFITM5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IFIH1 | Rebecca Foulger reviewed gene: IFIH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IDUA | Rebecca Foulger reviewed gene: IDUA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IDS | Rebecca Foulger reviewed gene: IDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IARS2 | Rebecca Foulger reviewed gene: IARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IARS | Rebecca Foulger reviewed gene: IARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HYLS1 | Rebecca Foulger reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HYDIN | Rebecca Foulger reviewed gene: HYDIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HYAL1 | Rebecca Foulger reviewed gene: HYAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HUWE1 | Rebecca Foulger reviewed gene: HUWE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HTRA2 | Rebecca Foulger reviewed gene: HTRA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HSPG2 | Rebecca Foulger reviewed gene: HSPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HSPD1 | Rebecca Foulger reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HSF4 | Rebecca Foulger reviewed gene: HSF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HSD3B7 | Rebecca Foulger reviewed gene: HSD3B7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HSD17B4 | Rebecca Foulger reviewed gene: HSD17B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HSD17B10 | Rebecca Foulger reviewed gene: HSD17B10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HRAS | Rebecca Foulger reviewed gene: HRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HR | Rebecca Foulger reviewed gene: HR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HPSE2 | Rebecca Foulger reviewed gene: HPSE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HPS1 | Rebecca Foulger reviewed gene: HPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HPRT1 | Rebecca Foulger reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HPGD | Rebecca Foulger reviewed gene: HPGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HPD | Rebecca Foulger reviewed gene: HPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HOXD13 | Rebecca Foulger reviewed gene: HOXD13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HOXC13 | Rebecca Foulger reviewed gene: HOXC13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HOXB1 | Rebecca Foulger reviewed gene: HOXB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HOXA13 | Rebecca Foulger reviewed gene: HOXA13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HOXA11 | Rebecca Foulger reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HOXA1 | Rebecca Foulger reviewed gene: HOXA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HNRNPU | Rebecca Foulger reviewed gene: HNRNPU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HNRNPH2 | Rebecca Foulger reviewed gene: HNRNPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HNF4A | Rebecca Foulger reviewed gene: HNF4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HNF1B | Rebecca Foulger reviewed gene: HNF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HMX1 | Rebecca Foulger reviewed gene: HMX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HMGCS2 | Rebecca Foulger reviewed gene: HMGCS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HMGCL | Rebecca Foulger reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HMGB3 | Rebecca Foulger reviewed gene: HMGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HLCS | Rebecca Foulger reviewed gene: HLCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HIVEP2 | Rebecca Foulger reviewed gene: HIVEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HIST3H3 | Rebecca Foulger reviewed gene: HIST3H3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HIST1H4J | Rebecca Foulger reviewed gene: HIST1H4J: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HIST1H4C | Rebecca Foulger reviewed gene: HIST1H4C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HIST1H4B | Rebecca Foulger reviewed gene: HIST1H4B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HIST1H1E | Rebecca Foulger reviewed gene: HIST1H1E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HINT1 | Rebecca Foulger reviewed gene: HINT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HIBCH | Rebecca Foulger reviewed gene: HIBCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HGSNAT | Rebecca Foulger reviewed gene: HGSNAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HEXB | Rebecca Foulger reviewed gene: HEXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HEXA | Rebecca Foulger reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HESX1 | Rebecca Foulger reviewed gene: HESX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HECW2 | Rebecca Foulger reviewed gene: HECW2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HDAC8 | Rebecca Foulger reviewed gene: HDAC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HDAC4 | Rebecca Foulger reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HCN1 | Rebecca Foulger reviewed gene: HCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HCFC1 | Rebecca Foulger reviewed gene: HCFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HCCS | Rebecca Foulger reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HAX1 | Rebecca Foulger reviewed gene: HAX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HARS | Rebecca Foulger reviewed gene: HARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HADHA | Rebecca Foulger reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HADH | Rebecca Foulger reviewed gene: HADH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HACE1 | Rebecca Foulger reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | H3F3A | Rebecca Foulger reviewed gene: H3F3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GZF1 | Rebecca Foulger reviewed gene: GZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GUSB | Rebecca Foulger reviewed gene: GUSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GUCY2C | Rebecca Foulger reviewed gene: GUCY2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GTPBP3 | Rebecca Foulger reviewed gene: GTPBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GTF2H5 | Rebecca Foulger reviewed gene: GTF2H5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GTF2E2 | Rebecca Foulger reviewed gene: GTF2E2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GSPT2 | Rebecca Foulger reviewed gene: GSPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GRM6 | Rebecca Foulger reviewed gene: GRM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GRM1 | Rebecca Foulger reviewed gene: GRM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GRIN2D | Rebecca Foulger reviewed gene: GRIN2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GRIN2B | Rebecca Foulger reviewed gene: GRIN2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GRIN2A | Rebecca Foulger reviewed gene: GRIN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GRIN1 | Rebecca Foulger reviewed gene: GRIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GRIK2 | Rebecca Foulger reviewed gene: GRIK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GRIA3 | Rebecca Foulger reviewed gene: GRIA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GRHL3 | Rebecca Foulger reviewed gene: GRHL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GRHL2 | Rebecca Foulger reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GPX4 | Rebecca Foulger reviewed gene: GPX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GPSM2 | Rebecca Foulger reviewed gene: GPSM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GPC6 | Rebecca Foulger reviewed gene: GPC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GPC3 | Rebecca Foulger reviewed gene: GPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GPAA1 | Rebecca Foulger reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GORAB | Rebecca Foulger reviewed gene: GORAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GON4L | Rebecca Foulger reviewed gene: GON4L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNS | Rebecca Foulger reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNPTG | Rebecca Foulger reviewed gene: GNPTG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNPTAB | Rebecca Foulger reviewed gene: GNPTAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNPAT | Rebecca Foulger reviewed gene: GNPAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNB5 | Rebecca Foulger reviewed gene: GNB5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNB3 | Rebecca Foulger reviewed gene: GNB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNB1 | Rebecca Foulger reviewed gene: GNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNAS | Rebecca Foulger reviewed gene: GNAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNAQ | Rebecca Foulger reviewed gene: GNAQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNAO1 | Rebecca Foulger reviewed gene: GNAO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNAI3 | Rebecca Foulger reviewed gene: GNAI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNAI1 | Rebecca Foulger reviewed gene: GNAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNA14 | Rebecca Foulger reviewed gene: GNA14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNA11 | Rebecca Foulger reviewed gene: GNA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GMPPB | Rebecca Foulger reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GMPPA | Rebecca Foulger reviewed gene: GMPPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GMNN | Rebecca Foulger reviewed gene: GMNN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GM2A | Rebecca Foulger reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GLUL | Rebecca Foulger reviewed gene: GLUL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GLUD1 | Rebecca Foulger reviewed gene: GLUD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GLMN | Rebecca Foulger reviewed gene: GLMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GLIS3 | Rebecca Foulger reviewed gene: GLIS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GLIS2 | Rebecca Foulger reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GLI3 | Rebecca Foulger reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GLI2 | Rebecca Foulger reviewed gene: GLI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GLE1 | Rebecca Foulger reviewed gene: GLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GLDN | Rebecca Foulger reviewed gene: GLDN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GLDC | Rebecca Foulger reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GLB1 | Rebecca Foulger reviewed gene: GLB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GK | Rebecca Foulger reviewed gene: GK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GJC2 | Rebecca Foulger reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GJB3 | Rebecca Foulger reviewed gene: GJB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GJB2 | Rebecca Foulger reviewed gene: GJB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GJA8 | Rebecca Foulger reviewed gene: GJA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GJA3 | Rebecca Foulger reviewed gene: GJA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GJA1 | Rebecca Foulger reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GHR | Rebecca Foulger reviewed gene: GHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GFM1 | Rebecca Foulger reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GFER | Rebecca Foulger reviewed gene: GFER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GFAP | Rebecca Foulger reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GDI1 | Rebecca Foulger reviewed gene: GDI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GDF6 | Rebecca Foulger reviewed gene: GDF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GDF5 | Rebecca Foulger reviewed gene: GDF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GDF3 | Rebecca Foulger reviewed gene: GDF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GDF1 | Rebecca Foulger reviewed gene: GDF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GCSH | Rebecca Foulger reviewed gene: GCSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GCH1 | Rebecca Foulger reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GCDH | Rebecca Foulger reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GBA2 | Rebecca Foulger reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GBA | Rebecca Foulger reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GATM | Rebecca Foulger reviewed gene: GATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GATAD2B | Rebecca Foulger reviewed gene: GATAD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GATA6 | Rebecca Foulger reviewed gene: GATA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GATA4 | Rebecca Foulger reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GATA2 | Rebecca Foulger reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GAS8 | Rebecca Foulger reviewed gene: GAS8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GAMT | Rebecca Foulger reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GALT | Rebecca Foulger reviewed gene: GALT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GALNS | Rebecca Foulger reviewed gene: GALNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GALK1 | Rebecca Foulger reviewed gene: GALK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GALE | Rebecca Foulger reviewed gene: GALE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GALC | Rebecca Foulger reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GAD1 | Rebecca Foulger reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GABRG2 | Rebecca Foulger reviewed gene: GABRG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GABRB3 | Rebecca Foulger reviewed gene: GABRB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GABRB2 | Rebecca Foulger reviewed gene: GABRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GABRA1 | Rebecca Foulger reviewed gene: GABRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GABBR2 | Rebecca Foulger reviewed gene: GABBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GAA | Rebecca Foulger reviewed gene: GAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FZD6 | Rebecca Foulger reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FZD5 | Rebecca Foulger reviewed gene: FZD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FYCO1 | Rebecca Foulger reviewed gene: FYCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FUCA1 | Rebecca Foulger reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FTSJ1 | Rebecca Foulger reviewed gene: FTSJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FTO | Rebecca Foulger reviewed gene: FTO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FTL | Rebecca Foulger reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FTCD | Rebecca Foulger reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FRY | Rebecca Foulger reviewed gene: FRY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FRRS1L | Rebecca Foulger reviewed gene: FRRS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FRMPD4 | Rebecca Foulger reviewed gene: FRMPD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FRMD7 | Rebecca Foulger reviewed gene: FRMD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FREM2 | Rebecca Foulger reviewed gene: FREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FREM1 | Rebecca Foulger reviewed gene: FREM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FRAS1 | Rebecca Foulger reviewed gene: FRAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FOXRED1 | Rebecca Foulger reviewed gene: FOXRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FOXP3 | Rebecca Foulger reviewed gene: FOXP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FOXP2 | Rebecca Foulger reviewed gene: FOXP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FOXP1 | Rebecca Foulger reviewed gene: FOXP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FOXN1 | Rebecca Foulger reviewed gene: FOXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FOXL2 | Rebecca Foulger reviewed gene: FOXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FOXG1 | Rebecca Foulger reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FOXF1 | Rebecca Foulger reviewed gene: FOXF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FOXE3 | Rebecca Foulger reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FOXE1 | Rebecca Foulger reviewed gene: FOXE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FOXC2 | Rebecca Foulger reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FOXC1 | Rebecca Foulger reviewed gene: FOXC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FOLR1 | Rebecca Foulger reviewed gene: FOLR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FN1 | Rebecca Foulger reviewed gene: FN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FMR1 | Rebecca Foulger reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FMN2 | Rebecca Foulger reviewed gene: FMN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FLVCR2 | Rebecca Foulger reviewed gene: FLVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FLVCR1 | Rebecca Foulger reviewed gene: FLVCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FLT4 | Rebecca Foulger reviewed gene: FLT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FLNB | Rebecca Foulger reviewed gene: FLNB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FLNA | Rebecca Foulger reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FLG | Rebecca Foulger reviewed gene: FLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FLAD1 | Rebecca Foulger reviewed gene: FLAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FKTN | Rebecca Foulger reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FKRP | Rebecca Foulger reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FKBP14 | Rebecca Foulger reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FIG4 | Rebecca Foulger reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FHL1 | Rebecca Foulger reviewed gene: FHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FH | Rebecca Foulger reviewed gene: FH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FGFR3 | Rebecca Foulger reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FGFR2 | Rebecca Foulger reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FGFR1 | Rebecca Foulger reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FGF9 | Rebecca Foulger reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FGF3 | Rebecca Foulger reviewed gene: FGF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FGF12 | Rebecca Foulger reviewed gene: FGF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FGF10 | Rebecca Foulger reviewed gene: FGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FGD1 | Rebecca Foulger reviewed gene: FGD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FEZF1 | Rebecca Foulger reviewed gene: FEZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FBXW4 | Rebecca Foulger reviewed gene: FBXW4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FBXO25 | Rebecca Foulger reviewed gene: FBXO25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FBXO11 | Rebecca Foulger reviewed gene: FBXO11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FBXL4 | Rebecca Foulger reviewed gene: FBXL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FBP1 | Rebecca Foulger reviewed gene: FBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FBN2 | Rebecca Foulger reviewed gene: FBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FBN1 | Rebecca Foulger reviewed gene: FBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FBLN1 | Rebecca Foulger reviewed gene: FBLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FAT4 | Rebecca Foulger reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FASN | Rebecca Foulger reviewed gene: FASN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FAR1 | Rebecca Foulger reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FANCM | Rebecca Foulger reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FANCL | Rebecca Foulger reviewed gene: FANCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FANCI | Rebecca Foulger reviewed gene: FANCI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FANCG | Rebecca Foulger reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FANCF | Rebecca Foulger reviewed gene: FANCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FANCE | Rebecca Foulger reviewed gene: FANCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FANCD2 | Rebecca Foulger reviewed gene: FANCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FANCC | Rebecca Foulger reviewed gene: FANCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FANCB | Rebecca Foulger reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FANCA | Rebecca Foulger reviewed gene: FANCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FAM58A | Rebecca Foulger reviewed gene: FAM58A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FAM20C | Rebecca Foulger reviewed gene: FAM20C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FAM20A | Rebecca Foulger reviewed gene: FAM20A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FAM161A | Rebecca Foulger reviewed gene: FAM161A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FAM126A | Rebecca Foulger reviewed gene: FAM126A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FAM111A | Rebecca Foulger reviewed gene: FAM111A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FAH | Rebecca Foulger reviewed gene: FAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EZH2 | Rebecca Foulger reviewed gene: EZH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EYA1 | Rebecca Foulger reviewed gene: EYA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EXT2 | Rebecca Foulger reviewed gene: EXT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EXT1 | Rebecca Foulger reviewed gene: EXT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EXPH5 | Rebecca Foulger reviewed gene: EXPH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EXOSC3 | Rebecca Foulger reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EVC2 | Rebecca Foulger reviewed gene: EVC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EVC | Rebecca Foulger reviewed gene: EVC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ETHE1 | Rebecca Foulger reviewed gene: ETHE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ETFDH | Rebecca Foulger reviewed gene: ETFDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ETFB | Rebecca Foulger reviewed gene: ETFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ETFA | Rebecca Foulger reviewed gene: ETFA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ESCO2 | Rebecca Foulger reviewed gene: ESCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ERMARD | Rebecca Foulger reviewed gene: ERMARD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ERLIN2 | Rebecca Foulger reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ERF | Rebecca Foulger reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ERCC8 | Rebecca Foulger reviewed gene: ERCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ERCC6L2 | Rebecca Foulger reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ERCC6 | Rebecca Foulger reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ERCC5 | Rebecca Foulger reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ERCC4 | Rebecca Foulger reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ERCC3 | Rebecca Foulger reviewed gene: ERCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ERCC2 | Rebecca Foulger reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ERCC1 | Rebecca Foulger reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ERBB3 | Rebecca Foulger reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EPHB4 | Rebecca Foulger reviewed gene: EPHB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EPG5 | Rebecca Foulger reviewed gene: EPG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EPB41L1 | Rebecca Foulger reviewed gene: EPB41L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EP300 | Rebecca Foulger reviewed gene: EP300: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EOMES | Rebecca Foulger reviewed gene: EOMES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EOGT | Rebecca Foulger reviewed gene: EOGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ENTPD1 | Rebecca Foulger reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ENPP1 | Rebecca Foulger reviewed gene: ENPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EMX2 | Rebecca Foulger reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EMG1 | Rebecca Foulger reviewed gene: EMG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EMC1 | Rebecca Foulger reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ELP2 | Rebecca Foulger reviewed gene: ELP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ELOVL4 | Rebecca Foulger reviewed gene: ELOVL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ELN | Rebecca Foulger reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ELMO2 | Rebecca Foulger reviewed gene: ELMO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ELAC2 | Rebecca Foulger reviewed gene: ELAC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EIF4A3 | Rebecca Foulger reviewed gene: EIF4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EIF2S3 | Rebecca Foulger reviewed gene: EIF2S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EIF2AK3 | Rebecca Foulger reviewed gene: EIF2AK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EHMT1 | Rebecca Foulger reviewed gene: EHMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EGR2 | Rebecca Foulger reviewed gene: EGR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EFTUD2 | Rebecca Foulger reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EFNB1 | Rebecca Foulger reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EEF1B2 | Rebecca Foulger reviewed gene: EEF1B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EEF1A2 | Rebecca Foulger reviewed gene: EEF1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EED | Rebecca Foulger reviewed gene: EED: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EDNRB | Rebecca Foulger reviewed gene: EDNRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EDNRA | Rebecca Foulger reviewed gene: EDNRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EDN1 | Rebecca Foulger reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EDAR | Rebecca Foulger reviewed gene: EDAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EDA | Rebecca Foulger reviewed gene: EDA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ECEL1 | Rebecca Foulger reviewed gene: ECEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EBP | Rebecca Foulger reviewed gene: EBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EBF3 | Rebecca Foulger reviewed gene: EBF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DYRK1A | Rebecca Foulger reviewed gene: DYRK1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DYNC2H1 | Rebecca Foulger reviewed gene: DYNC2H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DYNC1H1 | Rebecca Foulger reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DYM | Rebecca Foulger reviewed gene: DYM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DVL3 | Rebecca Foulger reviewed gene: DVL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DVL1 | Rebecca Foulger reviewed gene: DVL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DSTYK | Rebecca Foulger reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DSPP | Rebecca Foulger reviewed gene: DSPP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DSG1 | Rebecca Foulger reviewed gene: DSG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DSE | Rebecca Foulger reviewed gene: DSE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DRC1 | Rebecca Foulger reviewed gene: DRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DPM3 | Rebecca Foulger reviewed gene: DPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DPM1 | Rebecca Foulger reviewed gene: DPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DPF2 | Rebecca Foulger reviewed gene: DPF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DPAGT1 | Rebecca Foulger reviewed gene: DPAGT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DOLK | Rebecca Foulger reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DOCK8 | Rebecca Foulger reviewed gene: DOCK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DOCK7 | Rebecca Foulger reviewed gene: DOCK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DOCK6 | Rebecca Foulger reviewed gene: DOCK6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DNMT3B | Rebecca Foulger reviewed gene: DNMT3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DNMT3A | Rebecca Foulger reviewed gene: DNMT3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DNM1 | Rebecca Foulger reviewed gene: DNM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DNAJC12 | Rebecca Foulger reviewed gene: DNAJC12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DNAJB13 | Rebecca Foulger reviewed gene: DNAJB13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DNAH5 | Rebecca Foulger reviewed gene: DNAH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DNAAF5 | Rebecca Foulger reviewed gene: DNAAF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DNAAF4 | Rebecca Foulger reviewed gene: DNAAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DNAAF3 | Rebecca Foulger reviewed gene: DNAAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DNA2 | Rebecca Foulger reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DMPK | Rebecca Foulger reviewed gene: DMPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DMP1 | Rebecca Foulger reviewed gene: DMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DMD | Rebecca Foulger reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DLX5 | Rebecca Foulger reviewed gene: DLX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DLL4 | Rebecca Foulger reviewed gene: DLL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DLL3 | Rebecca Foulger reviewed gene: DLL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DLG4 | Rebecca Foulger reviewed gene: DLG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DLG3 | Rebecca Foulger reviewed gene: DLG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DLD | Rebecca Foulger reviewed gene: DLD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DLAT | Rebecca Foulger reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DKC1 | Rebecca Foulger reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DIS3L2 | Rebecca Foulger reviewed gene: DIS3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DIP2B | Rebecca Foulger reviewed gene: DIP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DHX30 | Rebecca Foulger reviewed gene: DHX30: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DHTKD1 | Rebecca Foulger reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DHRS3 | Rebecca Foulger reviewed gene: DHRS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DHODH | Rebecca Foulger reviewed gene: DHODH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DHFR | Rebecca Foulger reviewed gene: DHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DHDDS | Rebecca Foulger reviewed gene: DHDDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DHCR7 | Rebecca Foulger reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DHCR24 | Rebecca Foulger reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DGAT1 | Rebecca Foulger reviewed gene: DGAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DEPDC5 | Rebecca Foulger reviewed gene: DEPDC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DENND5A | Rebecca Foulger reviewed gene: DENND5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DEAF1 | Rebecca Foulger reviewed gene: DEAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DDX6 | Rebecca Foulger reviewed gene: DDX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DDX59 | Rebecca Foulger reviewed gene: DDX59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DDX58 | Rebecca Foulger reviewed gene: DDX58: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DDX3X | Rebecca Foulger reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DDX11 | Rebecca Foulger reviewed gene: DDX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DDR2 | Rebecca Foulger reviewed gene: DDR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DDOST | Rebecca Foulger reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DDHD2 | Rebecca Foulger reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DDHD1 | Rebecca Foulger reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DDC | Rebecca Foulger reviewed gene: DDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DDB2 | Rebecca Foulger reviewed gene: DDB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DCX | Rebecca Foulger reviewed gene: DCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DCHS1 | Rebecca Foulger reviewed gene: DCHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DCDC2 | Rebecca Foulger reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DCC | Rebecca Foulger reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DCAF17 | Rebecca Foulger reviewed gene: DCAF17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DBT | Rebecca Foulger reviewed gene: DBT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DARS2 | Rebecca Foulger reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DARS | Rebecca Foulger reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DAG1 | Rebecca Foulger reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | D2HGDH | Rebecca Foulger reviewed gene: D2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CYP2U1 | Rebecca Foulger reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CYP24A1 | Rebecca Foulger reviewed gene: CYP24A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CYP1B1 | Rebecca Foulger reviewed gene: CYP1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CYC1 | Rebecca Foulger reviewed gene: CYC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CYB5R3 | Rebecca Foulger reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CWC27 | Rebecca Foulger reviewed gene: CWC27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CUX2 | Rebecca Foulger reviewed gene: CUX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CUL7 | Rebecca Foulger reviewed gene: CUL7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CUL4B | Rebecca Foulger reviewed gene: CUL4B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CUL3 | Rebecca Foulger reviewed gene: CUL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CTSK | Rebecca Foulger reviewed gene: CTSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CTSD | Rebecca Foulger reviewed gene: CTSD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CTSA | Rebecca Foulger reviewed gene: CTSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CTNS | Rebecca Foulger reviewed gene: CTNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CTNND1 | Rebecca Foulger reviewed gene: CTNND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CTNNB1 | Rebecca Foulger reviewed gene: CTNNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CTNNA2 | Rebecca Foulger reviewed gene: CTNNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CTDP1 | Rebecca Foulger reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CTCF | Rebecca Foulger reviewed gene: CTCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CTC1 | Rebecca Foulger reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CSTB | Rebecca Foulger reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CSTA | Rebecca Foulger reviewed gene: CSTA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CSPP1 | Rebecca Foulger reviewed gene: CSPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CSNK2A1 | Rebecca Foulger reviewed gene: CSNK2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CSNK1G1 | Rebecca Foulger reviewed gene: CSNK1G1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRYGD | Rebecca Foulger reviewed gene: CRYGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRYGC | Rebecca Foulger reviewed gene: CRYGC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRYBB3 | Rebecca Foulger reviewed gene: CRYBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRYBB2 | Rebecca Foulger reviewed gene: CRYBB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRYBB1 | Rebecca Foulger reviewed gene: CRYBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRYBA4 | Rebecca Foulger reviewed gene: CRYBA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRYBA1 | Rebecca Foulger reviewed gene: CRYBA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRYAB | Rebecca Foulger reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRYAA | Rebecca Foulger reviewed gene: CRYAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRX | Rebecca Foulger reviewed gene: CRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRKL | Rebecca Foulger reviewed gene: CRKL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRIPT | Rebecca Foulger reviewed gene: CRIPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRIM1 | Rebecca Foulger reviewed gene: CRIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRELD1 | Rebecca Foulger reviewed gene: CRELD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CREBBP | Rebecca Foulger reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRBN | Rebecca Foulger reviewed gene: CRBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRB2 | Rebecca Foulger reviewed gene: CRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRB1 | Rebecca Foulger reviewed gene: CRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRADD | Rebecca Foulger reviewed gene: CRADD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CPS1 | Rebecca Foulger reviewed gene: CPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CPAMD8 | Rebecca Foulger reviewed gene: CPAMD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COX7B | Rebecca Foulger reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COX6B1 | Rebecca Foulger reviewed gene: COX6B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COX15 | Rebecca Foulger reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COX14 | Rebecca Foulger reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COX10 | Rebecca Foulger reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COQ9 | Rebecca Foulger reviewed gene: COQ9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COQ8A | Rebecca Foulger reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COQ5 | Rebecca Foulger reviewed gene: COQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COQ4 | Rebecca Foulger reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COQ2 | Rebecca Foulger reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COMP | Rebecca Foulger reviewed gene: COMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COLEC11 | Rebecca Foulger reviewed gene: COLEC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COLEC10 | Rebecca Foulger reviewed gene: COLEC10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL9A3 | Rebecca Foulger reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL9A2 | Rebecca Foulger reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL9A1 | Rebecca Foulger reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL6A3 | Rebecca Foulger reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL6A1 | Rebecca Foulger reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL4A4 | Rebecca Foulger reviewed gene: COL4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL4A3BP | Rebecca Foulger reviewed gene: COL4A3BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL4A3 | Rebecca Foulger reviewed gene: COL4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL4A2 | Rebecca Foulger reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL4A1 | Rebecca Foulger reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL2A1 | Rebecca Foulger reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL25A1 | Rebecca Foulger reviewed gene: COL25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL1A1 | Rebecca Foulger reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL18A1 | Rebecca Foulger reviewed gene: COL18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL13A1 | Rebecca Foulger reviewed gene: COL13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL11A2 | Rebecca Foulger reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL11A1 | Rebecca Foulger reviewed gene: COL11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL10A1 | Rebecca Foulger reviewed gene: COL10A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COG8 | Rebecca Foulger reviewed gene: COG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COG7 | Rebecca Foulger reviewed gene: COG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COG5 | Rebecca Foulger reviewed gene: COG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COG4 | Rebecca Foulger reviewed gene: COG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COG1 | Rebecca Foulger reviewed gene: COG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COASY | Rebecca Foulger reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COA5 | Rebecca Foulger reviewed gene: COA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CNTNAP2 | Rebecca Foulger reviewed gene: CNTNAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CNTNAP1 | Rebecca Foulger reviewed gene: CNTNAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.927 | GNB5 |
Konstantinos Varvagiannis gene: GNB5 was added gene: GNB5 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331 Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 Penetrance for gene: GNB5 were set to Complete Review for gene: GNB5 was set to GREEN Added comment: Biallelic GNB5 pathogenic variants cause Intellectual developmental disorder with cardiac arrhythmia (MIM 617173) or language delay and ADHD/cognitive impairment with or without cardiac arrhythmia (MIM 617182). PMID: 27523599 is the first report on the associated phenotype. A total of 9 individuals from 6 different families (from various ethnic backgrounds) are described. The common features included hypotonia (noted in 6 out of 9 patients), intellectual disability (9/9 - in 3 cases mild, in 6 severe), heart rate disturbance (9/9 - in most cases sick sinus syndrome), seizures (4/9), ophthalmological problems (nystagmus in 6 out of 7 for whom this information was available) as well as gastric problems (5/8 with G-E reflux). The 6 variants (summarized in table S1) included : 2 nonsense mutations, 1 synonymous (demonstrated to affect splicing and leading to retention of 25 intronic bp), 2 further splice variants (positions +1 and +3) and a missense one (S81L). Nonsense mediated decay was the case for the product of the synonymous/splice variant as well as for a stopgain one. As noted by the authors, individuals homozygous for the S81L variant had a less severe phenotype - among others - with mild degree of intellectual disability. Functional studies included knockout of gnb5 in zebrafish, which was able to reproduce the human neurological, cardiac and ophthalmological phenotypes. Alternative causes for these phenotypes (incl. chromosomal or metabolic disorders) were ruled out. Affected individuals might benefit interventions for their heart rate disturbance as appears to be the case in the article as well as subsequent studies. PMID: 27677260 describes an extended consanguineous Saudi family with 5 individuals homozygous for the S81L variant. Common features included severe language delay, ADHD, but normal cognition in those available for evaluation. Seizures were not reported. Pathogenicity of the S81L variant is further supported by functional studies. PMID: 28697420 describes in detail 2 individuals from a large consanguineous pedigree confirmed to be homozygous for a single nucleotide deletion in GNB5. The phenotype included severe DD/ID, seizures, sinus bradycardia with frequent sinus pauses and ophthalmological problems. Sinus arrhythmia and or seizures were documented in several other relatives deceased and unavailable for testing. PMID: 28327206 reports on 2 subjects previously included in PMID: 27523599. PMID: 29368331 describes a child with severe developmental delay, nystagmus and sinus arrhythmia necessitating a pacemaker. EEG was abnormal although no frank seizures were observed. The child was compound heterozygous for a novel missense variant (R246Q) as well a 5 basepair deletion. Epilepsy was a feature in at least 6 individuals reported. As a result this gene can be considered for inclusion in this panel as green or amber. Sources: Literature, Expert Review |
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| DDG2P v0.2 | CNOT3 | Rebecca Foulger reviewed gene: CNOT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CNKSR2 | Rebecca Foulger reviewed gene: CNKSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CNKSR1 | Rebecca Foulger reviewed gene: CNKSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLTC | Rebecca Foulger reviewed gene: CLTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLPP | Rebecca Foulger reviewed gene: CLPP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLPB | Rebecca Foulger reviewed gene: CLPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLP1 | Rebecca Foulger reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLN8 | Rebecca Foulger reviewed gene: CLN8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLN6 | Rebecca Foulger reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLN5 | Rebecca Foulger reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLN3 | Rebecca Foulger reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLMP | Rebecca Foulger reviewed gene: CLMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLIC2 | Rebecca Foulger reviewed gene: CLIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLDN19 | Rebecca Foulger reviewed gene: CLDN19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLCNKB | Rebecca Foulger reviewed gene: CLCNKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLCNKA | Rebecca Foulger reviewed gene: CLCNKA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLCN7 | Rebecca Foulger reviewed gene: CLCN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLCN4 | Rebecca Foulger reviewed gene: CLCN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CKAP2L | Rebecca Foulger reviewed gene: CKAP2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CIT | Rebecca Foulger reviewed gene: CIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CISD2 | Rebecca Foulger reviewed gene: CISD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CIC | Rebecca Foulger reviewed gene: CIC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CIB2 | Rebecca Foulger reviewed gene: CIB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHUK | Rebecca Foulger reviewed gene: CHUK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHSY1 | Rebecca Foulger reviewed gene: CHSY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHST3 | Rebecca Foulger reviewed gene: CHST3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHST14 | Rebecca Foulger reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHRNG | Rebecca Foulger reviewed gene: CHRNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHRNB2 | Rebecca Foulger reviewed gene: CHRNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHRNA4 | Rebecca Foulger reviewed gene: CHRNA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHRNA2 | Rebecca Foulger reviewed gene: CHRNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHRNA1 | Rebecca Foulger reviewed gene: CHRNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHRDL1 | Rebecca Foulger reviewed gene: CHRDL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHMP1A | Rebecca Foulger reviewed gene: CHMP1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHM | Rebecca Foulger reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHD8 | Rebecca Foulger reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHD7 | Rebecca Foulger reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHD4 | Rebecca Foulger reviewed gene: CHD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHD3 | Rebecca Foulger reviewed gene: CHD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHD2 | Rebecca Foulger reviewed gene: CHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHAMP1 | Rebecca Foulger reviewed gene: CHAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CFL2 | Rebecca Foulger reviewed gene: CFL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CFC1 | Rebecca Foulger reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CEP83 | Rebecca Foulger reviewed gene: CEP83: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CEP63 | Rebecca Foulger reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CEP57 | Rebecca Foulger reviewed gene: CEP57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CEP41 | Rebecca Foulger reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CEP290 | Rebecca Foulger reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CEP152 | Rebecca Foulger reviewed gene: CEP152: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CEP135 | Rebecca Foulger reviewed gene: CEP135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CEP104 | Rebecca Foulger reviewed gene: CEP104: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CENPJ | Rebecca Foulger reviewed gene: CENPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CENPF | Rebecca Foulger reviewed gene: CENPF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDT1 | Rebecca Foulger reviewed gene: CDT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDON | Rebecca Foulger reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDKN1C | Rebecca Foulger reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDKL5 | Rebecca Foulger reviewed gene: CDKL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDK5RAP2 | Rebecca Foulger reviewed gene: CDK5RAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDK16 | Rebecca Foulger reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDK13 | Rebecca Foulger reviewed gene: CDK13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDK10 | Rebecca Foulger reviewed gene: CDK10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDH3 | Rebecca Foulger reviewed gene: CDH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDH23 | Rebecca Foulger reviewed gene: CDH23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDH15 | Rebecca Foulger reviewed gene: CDH15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDH1 | Rebecca Foulger reviewed gene: CDH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDC6 | Rebecca Foulger reviewed gene: CDC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDC45 | Rebecca Foulger reviewed gene: CDC45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CD96 | Rebecca Foulger reviewed gene: CD96: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CD151 | Rebecca Foulger reviewed gene: CD151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCNO | Rebecca Foulger reviewed gene: CCNO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCND2 | Rebecca Foulger reviewed gene: CCND2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCNA2 | Rebecca Foulger reviewed gene: CCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCDC88C | Rebecca Foulger reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCDC88A | Rebecca Foulger reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCDC8 | Rebecca Foulger reviewed gene: CCDC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCDC78 | Rebecca Foulger reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCDC65 | Rebecca Foulger reviewed gene: CCDC65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCDC40 | Rebecca Foulger reviewed gene: CCDC40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCDC39 | Rebecca Foulger reviewed gene: CCDC39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCDC22 | Rebecca Foulger reviewed gene: CCDC22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCDC151 | Rebecca Foulger reviewed gene: CCDC151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCDC115 | Rebecca Foulger reviewed gene: CCDC115: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCDC114 | Rebecca Foulger reviewed gene: CCDC114: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCDC103 | Rebecca Foulger reviewed gene: CCDC103: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCBE1 | Rebecca Foulger reviewed gene: CCBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CC2D2A | Rebecca Foulger reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CC2D1A | Rebecca Foulger reviewed gene: CC2D1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CBS | Rebecca Foulger reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CBL | Rebecca Foulger reviewed gene: CBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CAV1 | Rebecca Foulger reviewed gene: CAV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CASP2 | Rebecca Foulger reviewed gene: CASP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CASK | Rebecca Foulger reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CARS2 | Rebecca Foulger reviewed gene: CARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CAPRIN1 | Rebecca Foulger reviewed gene: CAPRIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CAPN10 | Rebecca Foulger reviewed gene: CAPN10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CAMTA1 | Rebecca Foulger reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CAMK2B | Rebecca Foulger reviewed gene: CAMK2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CAMK2A | Rebecca Foulger reviewed gene: CAMK2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CAD | Rebecca Foulger reviewed gene: CAD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CACNB4 | Rebecca Foulger reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CACNA1H | Rebecca Foulger reviewed gene: CACNA1H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CACNA1G | Rebecca Foulger reviewed gene: CACNA1G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CACNA1D | Rebecca Foulger reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CACNA1C | Rebecca Foulger reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CACNA1A | Rebecca Foulger reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CA8 | Rebecca Foulger reviewed gene: CA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CA5A | Rebecca Foulger reviewed gene: CA5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CA2 | Rebecca Foulger reviewed gene: CA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | C8orf37 | Rebecca Foulger reviewed gene: C8orf37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | C5orf42 | Rebecca Foulger reviewed gene: C5orf42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | C4orf26 | Rebecca Foulger reviewed gene: C4orf26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | C2orf71 | Rebecca Foulger reviewed gene: C2orf71: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | C2CD3 | Rebecca Foulger reviewed gene: C2CD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | C21orf59 | Rebecca Foulger reviewed gene: C21orf59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | C21orf2 | Rebecca Foulger reviewed gene: C21orf2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | C1QBP | Rebecca Foulger reviewed gene: C1QBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | C12orf65 | Rebecca Foulger reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | C12orf57 | Rebecca Foulger reviewed gene: C12orf57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BUB1B | Rebecca Foulger reviewed gene: BUB1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BTD | Rebecca Foulger reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BSND | Rebecca Foulger reviewed gene: BSND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BRWD3 | Rebecca Foulger reviewed gene: BRWD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BRPF1 | Rebecca Foulger reviewed gene: BRPF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BRIP1 | Rebecca Foulger reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BRCA2 | Rebecca Foulger reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BRCA1 | Rebecca Foulger reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BRAT1 | Rebecca Foulger reviewed gene: BRAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BRAF | Rebecca Foulger reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BPTF | Rebecca Foulger reviewed gene: BPTF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BPIFB6 | Rebecca Foulger reviewed gene: BPIFB6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BOLA3 | Rebecca Foulger reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BMPR1B | Rebecca Foulger reviewed gene: BMPR1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BMPER | Rebecca Foulger reviewed gene: BMPER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BMP4 | Rebecca Foulger reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BMP2 | Rebecca Foulger reviewed gene: BMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BLOC1S6 | Rebecca Foulger reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BLM | Rebecca Foulger reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BIN1 | Rebecca Foulger reviewed gene: BIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BICD2 | Rebecca Foulger reviewed gene: BICD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BHLHA9 | Rebecca Foulger reviewed gene: BHLHA9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BGN | Rebecca Foulger reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BFSP2 | Rebecca Foulger reviewed gene: BFSP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BCS1L | Rebecca Foulger reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BCOR | Rebecca Foulger reviewed gene: BCOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BCL11A | Rebecca Foulger reviewed gene: BCL11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BCKDHB | Rebecca Foulger reviewed gene: BCKDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BCKDHA | Rebecca Foulger reviewed gene: BCKDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BCAP31 | Rebecca Foulger reviewed gene: BCAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BBS9 | Rebecca Foulger reviewed gene: BBS9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BBS7 | Rebecca Foulger reviewed gene: BBS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BBS5 | Rebecca Foulger reviewed gene: BBS5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BBS4 | Rebecca Foulger reviewed gene: BBS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BBS2 | Rebecca Foulger reviewed gene: BBS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BBS12 | Rebecca Foulger reviewed gene: BBS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BBS10 | Rebecca Foulger reviewed gene: BBS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BBS1 | Rebecca Foulger reviewed gene: BBS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BANF1 | Rebecca Foulger reviewed gene: BANF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | B9D1 | Rebecca Foulger reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | B4GALT7 | Rebecca Foulger reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | B3GALT6 | Rebecca Foulger reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | B3GALNT2 | Rebecca Foulger reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AXIN1 | Rebecca Foulger reviewed gene: AXIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AUTS2 | Rebecca Foulger reviewed gene: AUTS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AUH | Rebecca Foulger reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATRX | Rebecca Foulger reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATR | Rebecca Foulger reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATP8B1 | Rebecca Foulger reviewed gene: ATP8B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATP8A2 | Rebecca Foulger reviewed gene: ATP8A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATP7A | Rebecca Foulger reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATP6V1B2 | Rebecca Foulger reviewed gene: ATP6V1B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATP6V1B1 | Rebecca Foulger reviewed gene: ATP6V1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATP6AP2 | Rebecca Foulger reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATP1A3 | Rebecca Foulger reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATP13A2 | Rebecca Foulger reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATOH7 | Rebecca Foulger reviewed gene: ATOH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATM | Rebecca Foulger reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATIC | Rebecca Foulger reviewed gene: ATIC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATAD3A | Rebecca Foulger reviewed gene: ATAD3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASXL3 | Rebecca Foulger reviewed gene: ASXL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASXL2 | Rebecca Foulger reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASXL1 | Rebecca Foulger reviewed gene: ASXL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASS1 | Rebecca Foulger reviewed gene: ASS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASPM | Rebecca Foulger reviewed gene: ASPM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASPH | Rebecca Foulger reviewed gene: ASPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASPA | Rebecca Foulger reviewed gene: ASPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASL | Rebecca Foulger reviewed gene: ASL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASH1L | Rebecca Foulger reviewed gene: ASH1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASCL1 | Rebecca Foulger reviewed gene: ASCL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASCC3 | Rebecca Foulger reviewed gene: ASCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASCC1 | Rebecca Foulger reviewed gene: ASCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ASAH1 | Rebecca Foulger reviewed gene: ASAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARX | Rebecca Foulger reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARSE | Rebecca Foulger reviewed gene: ARSE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARSB | Rebecca Foulger reviewed gene: ARSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARSA | Rebecca Foulger reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARMC9 | Rebecca Foulger reviewed gene: ARMC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARMC4 | Rebecca Foulger reviewed gene: ARMC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARL6 | Rebecca Foulger reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARL14EP | Rebecca Foulger reviewed gene: ARL14EP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARID2 | Rebecca Foulger reviewed gene: ARID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARID1B | Rebecca Foulger reviewed gene: ARID1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARID1A | Rebecca Foulger reviewed gene: ARID1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARHGEF9 | Rebecca Foulger reviewed gene: ARHGEF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARHGEF6 | Rebecca Foulger reviewed gene: ARHGEF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARHGAP31 | Rebecca Foulger reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARG1 | Rebecca Foulger reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARFGEF2 | Rebecca Foulger reviewed gene: ARFGEF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARCN1 | Rebecca Foulger reviewed gene: ARCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AR | Rebecca Foulger reviewed gene: AR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | APTX | Rebecca Foulger reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | APOPT1 | Rebecca Foulger reviewed gene: APOPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AP4S1 | Rebecca Foulger reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AP4M1 | Rebecca Foulger reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AP4E1 | Rebecca Foulger reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AP4B1 | Rebecca Foulger reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AP3B2 | Rebecca Foulger reviewed gene: AP3B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AP1S2 | Rebecca Foulger reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ANTXR1 | Rebecca Foulger reviewed gene: ANTXR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ANO5 | Rebecca Foulger reviewed gene: ANO5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ANKRD26 | Rebecca Foulger reviewed gene: ANKRD26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ANKRD11 | Rebecca Foulger reviewed gene: ANKRD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ANKH | Rebecca Foulger reviewed gene: ANKH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AMT | Rebecca Foulger reviewed gene: AMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AMPD2 | Rebecca Foulger reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AMER1 | Rebecca Foulger reviewed gene: AMER1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALX4 | Rebecca Foulger reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALX3 | Rebecca Foulger reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALX1 | Rebecca Foulger reviewed gene: ALX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALS2 | Rebecca Foulger reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALPL | Rebecca Foulger reviewed gene: ALPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALMS1 | Rebecca Foulger reviewed gene: ALMS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALG9 | Rebecca Foulger reviewed gene: ALG9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALG8 | Rebecca Foulger reviewed gene: ALG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALG6 | Rebecca Foulger reviewed gene: ALG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALG3 | Rebecca Foulger reviewed gene: ALG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALG2 | Rebecca Foulger reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALG13 | Rebecca Foulger reviewed gene: ALG13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALG12 | Rebecca Foulger reviewed gene: ALG12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALG11 | Rebecca Foulger reviewed gene: ALG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALG1 | Rebecca Foulger reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALDOB | Rebecca Foulger reviewed gene: ALDOB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALDOA | Rebecca Foulger reviewed gene: ALDOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALDH7A1 | Rebecca Foulger reviewed gene: ALDH7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALDH5A1 | Rebecca Foulger reviewed gene: ALDH5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALDH4A1 | Rebecca Foulger reviewed gene: ALDH4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALDH3A2 | Rebecca Foulger reviewed gene: ALDH3A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALDH1A3 | Rebecca Foulger reviewed gene: ALDH1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALDH18A1 | Rebecca Foulger reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALAD | Rebecca Foulger reviewed gene: ALAD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AKT3 | Rebecca Foulger reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AKT1 | Rebecca Foulger reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AKR1D1 | Rebecca Foulger reviewed gene: AKR1D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AK2 | Rebecca Foulger reviewed gene: AK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AIRE | Rebecca Foulger reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AIPL1 | Rebecca Foulger reviewed gene: AIPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AIMP1 | Rebecca Foulger reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AIFM1 | Rebecca Foulger reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AHI1 | Rebecca Foulger reviewed gene: AHI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AHDC1 | Rebecca Foulger reviewed gene: AHDC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AGXT | Rebecca Foulger reviewed gene: AGXT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AGTR2 | Rebecca Foulger reviewed gene: AGTR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AGPS | Rebecca Foulger reviewed gene: AGPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AGL | Rebecca Foulger reviewed gene: AGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AGK | Rebecca Foulger reviewed gene: AGK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AGA | Rebecca Foulger reviewed gene: AGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AFG3L2 | Rebecca Foulger reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AFF4 | Rebecca Foulger reviewed gene: AFF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AFF3 | Rebecca Foulger reviewed gene: AFF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AFF2 | Rebecca Foulger reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ADSL | Rebecca Foulger reviewed gene: ADSL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ADRA2B | Rebecca Foulger reviewed gene: ADRA2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ADNP | Rebecca Foulger reviewed gene: ADNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ADK | Rebecca Foulger reviewed gene: ADK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ADGRG6 | Rebecca Foulger reviewed gene: ADGRG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ADGRG1 | Rebecca Foulger reviewed gene: ADGRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ADAR | Rebecca Foulger reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ADAMTS18 | Rebecca Foulger reviewed gene: ADAMTS18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ADA | Rebecca Foulger reviewed gene: ADA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACY1 | Rebecca Foulger reviewed gene: ACY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACVR2B | Rebecca Foulger reviewed gene: ACVR2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACVR1 | Rebecca Foulger reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACTL6B | Rebecca Foulger reviewed gene: ACTL6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACTG1 | Rebecca Foulger reviewed gene: ACTG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACTB | Rebecca Foulger reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACTA2 | Rebecca Foulger reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACTA1 | Rebecca Foulger reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACSL4 | Rebecca Foulger reviewed gene: ACSL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACP5 | Rebecca Foulger reviewed gene: ACP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACOX1 | Rebecca Foulger reviewed gene: ACOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACO2 | Rebecca Foulger reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACBD6 | Rebecca Foulger reviewed gene: ACBD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACAT1 | Rebecca Foulger reviewed gene: ACAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACAN | Rebecca Foulger reviewed gene: ACAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACADVL | Rebecca Foulger reviewed gene: ACADVL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACADS | Rebecca Foulger reviewed gene: ACADS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACADM | Rebecca Foulger reviewed gene: ACADM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACAD9 | Rebecca Foulger reviewed gene: ACAD9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ABL1 | Rebecca Foulger reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ABHD5 | Rebecca Foulger reviewed gene: ABHD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ABCD4 | Rebecca Foulger reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ABCD1 | Rebecca Foulger reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ABCC9 | Rebecca Foulger reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ABCC6 | Rebecca Foulger reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ABCB7 | Rebecca Foulger reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ABCB6 | Rebecca Foulger reviewed gene: ABCB6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ABCB11 | Rebecca Foulger reviewed gene: ABCB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AASS | Rebecca Foulger reviewed gene: AASS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AARS | Rebecca Foulger reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AAAS | Rebecca Foulger reviewed gene: AAAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.537 | GNB5 |
Konstantinos Varvagiannis gene: GNB5 was added gene: GNB5 was added to Intellectual disability. Sources: Literature,Expert Review Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331 Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 Penetrance for gene: GNB5 were set to Complete Review for gene: GNB5 was set to GREEN gene: GNB5 was marked as current diagnostic Added comment: Biallelic GNB5 pathogenic variants cause Intellectual developmental disorder with cardiac arrhythmia (MIM 617173) or language delay and ADHD/cognitive impairment with or without cardiac arrhythmia (MIM 617182). PMID: 27523599 is the first report on the associated phenotype. A total of 9 individuals from 6 different families (from various ethnic backgrounds) are described. The common features included hypotonia (noted in 6 out of 9 patients), intellectual disability (9/9 - in 3 cases mild, in 6 severe), heart rate disturbance (9/9 - in most cases sick sinus syndrome), seizures (4/9), ophthalmological problems (nystagmus in 6 out of 7 for whom this information was available) as well as gastric problems (5/8 with G-E reflux). The 6 variants (summarized in table S1) included : 2 nonsense mutations, 1 synonymous (demonstrated to affect splicing and leading to retention of 25 intronic bp), 2 further splice variants (positions +1 and +3) and a missense one (S81L). Nonsense mediated decay was the case for the product of the synonymous/splice variant as well as for a stopgain one. As noted by the authors, individuals homozygous for the S81L variant had a less severe phenotype - among others - with mild degree of intellectual disability. Functional studies included knockout of gnb5 in zebrafish, which was able to reproduce the human neurological, cardiac and ophthalmological phenotypes. Alternative causes for these phenotypes (incl. chromosomal or metabolic disorders) were ruled out. Affected individuals might benefit interventions for their heart rate disturbance as appears to be the case in the article as well as subsequent studies. PMID: 27677260 describes an extended consanguineous Saudi family with 5 individuals homozygous for the S81L variant. Common features included severe language delay, ADHD, but normal cognition in those available for evaluation. Seizures were not reported. Pathogenicity of the S81L variant is further supported by functional studies. PMID: 28697420 describes in detail 2 individuals from a large consanguineous pedigree confirmed to be homozygous for a single nucleotide deletion in GNB5. The phenotype included severe DD/ID, seizures, sinus bradycardia with frequent sinus pauses and ophthalmological problems. Sinus arrhythmia and or seizures were documented in several other relatives deceased and unavailable for testing. PMID: 28327206 reports on 2 subjects previously included in PMID: 27523599. PMID: 29368331 describes a child with severe developmental delay, nystagmus and sinus arrhythmia necessitating a pacemaker. EEG was abnormal although no frank seizures were observed. The child was compound heterozygous for a novel missense variant (R246Q) as well a 5 basepair deletion. GNB5 is included in diagnostic gene panels for intellectual disability offered by different laboratories. As a result this gene can be considered for inclusion in this panel as green. Sources: Literature, Expert Review |
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| Short QT syndrome v0.19 | PKP2 | Sarah Leigh Publications for gene: PKP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.18 | SCN10A | Sarah Leigh Publications for gene: SCN10A were set to PMID:30177317 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ZSWIM6 |
Rebecca Foulger gene: ZSWIM6 was added gene: ZSWIM6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZSWIM6 were set to 25105228 Phenotypes for gene: ZSWIM6 were set to ACROMELIC FRONTONASAL DYSOSTOSIS 603671 Mode of pathogenicity for gene: ZSWIM6 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ZNF750 |
Rebecca Foulger gene: ZNF750 was added gene: ZNF750 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ZNF750 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZNF750 were set to 16751772 Phenotypes for gene: ZNF750 were set to SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS 610227 |
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| DDG2P v0.1 | ZNF713 |
Rebecca Foulger gene: ZNF713 was added gene: ZNF713 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZNF713 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZNF713 were set to 25196122 Phenotypes for gene: ZNF713 were set to AUTISM 209850 Mode of pathogenicity for gene: ZNF713 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ZNF711 |
Rebecca Foulger gene: ZNF711 was added gene: ZNF711 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZNF711 were set to 19377476 Phenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED 300803 |
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| DDG2P v0.1 | ZNF599 |
Rebecca Foulger gene: ZNF599 was added gene: ZNF599 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZNF599 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZNF599 were set to NOT IN OMIM Mode of pathogenicity for gene: ZNF599 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ZNF526 |
Rebecca Foulger gene: ZNF526 was added gene: ZNF526 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF526 were set to 21937992 Phenotypes for gene: ZNF526 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ZNF526 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ZNF462 |
Rebecca Foulger gene: ZNF462 was added gene: ZNF462 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZNF462 were set to 28513610 Phenotypes for gene: ZNF462 were set to Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay |
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| DDG2P v0.1 | ZMYND11 |
Rebecca Foulger gene: ZMYND11 was added gene: ZMYND11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZMYND11 were set to 25217958; 25281490; 27626064 Phenotypes for gene: ZMYND11 were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | ZMYND10 |
Rebecca Foulger gene: ZMYND10 was added gene: ZMYND10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZMYND10 were set to 23891471 Phenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22 615444 |
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| DDG2P v0.1 | ZMYM6 |
Rebecca Foulger gene: ZMYM6 was added gene: ZMYM6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZMYM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZMYM6 were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | ZMPSTE24 |
Rebecca Foulger Added phenotypes MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 608612 for gene: ZMPSTE24 Publications for gene ZMPSTE24 were changed from to 12913070 |
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| DDG2P v0.1 | ZMPSTE24 |
Rebecca Foulger gene: ZMPSTE24 was added gene: ZMPSTE24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZMPSTE24 were set to LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED 319186 |
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| DDG2P v0.1 | ZIC3 | Rebecca Foulger Added phenotypes HETEROTAXY SYNDROME 207574 for gene: ZIC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ZIC3 |
Rebecca Foulger gene: ZIC3 was added gene: ZIC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZIC3 were set to VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 319683 |
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| DDG2P v0.1 | ZIC2 |
Rebecca Foulger gene: ZIC2 was added gene: ZIC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZIC2 were set to 11479728; 21638761; 9771712 Phenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY 609637 |
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| DDG2P v0.1 | ZIC1 |
Rebecca Foulger gene: ZIC1 was added gene: ZIC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZIC1 were set to 26340333 Phenotypes for gene: ZIC1 were set to CRANIOSYNOSTOSIS 6 616602 Mode of pathogenicity for gene: ZIC1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ZFYVE26 |
Rebecca Foulger gene: ZFYVE26 was added gene: ZFYVE26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE26 were set to 11342696; 19805727; 18098276; 17661097 Phenotypes for gene: ZFYVE26 were set to SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 270700 |
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| DDG2P v0.1 | ZFPM2 | Rebecca Foulger Added phenotypes TETRALOGY OF FALLOT 187500 for gene: ZFPM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ZFPM2 |
Rebecca Foulger Added phenotypes DIAPHRAGMATIC HERNIA 3 610187 for gene: ZFPM2 Publications for gene ZFPM2 were changed from 24549039 to 16103912 |
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| DDG2P v0.1 | ZFPM2 |
Rebecca Foulger gene: ZFPM2 was added gene: ZFPM2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFPM2 were set to 24549039 Phenotypes for gene: ZFPM2 were set to 46,XY GONADAL DYSGENESIS |
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| DDG2P v0.1 | ZFP57 |
Rebecca Foulger gene: ZFP57 was added gene: ZFP57 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFP57 were set to 18622393 Phenotypes for gene: ZFP57 were set to DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL 601410 |
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| DDG2P v0.1 | ZEB2 |
Rebecca Foulger gene: ZEB2 was added gene: ZEB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZEB2 were set to 16532472; 11891681; 11279515; 12451214; 11595972; 9719364; 12920073; 16088920; 11592033; 16688751 Phenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME 235730 |
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| DDG2P v0.1 | ZEB1 | Rebecca Foulger Added phenotypes POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY TYPE 3 609141 for gene: ZEB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ZEB1 |
Rebecca Foulger gene: ZEB1 was added gene: ZEB1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZEB1 were set to CORNEAL DYSTROPHY FUCHS ENDOTHELIAL TYPE 6 613270 |
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| DDG2P v0.1 | ZDHHC9 |
Rebecca Foulger gene: ZDHHC9 was added gene: ZDHHC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZDHHC9 were set to 17436253; 26000327 Phenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED 300799 |
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| DDG2P v0.1 | ZDHHC15 |
Rebecca Foulger gene: ZDHHC15 was added gene: ZDHHC15 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZDHHC15 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZDHHC15 were set to 15915161 Phenotypes for gene: ZDHHC15 were set to MENTAL RETARDATION X-LINKED TYPE 91 300577 |
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| DDG2P v0.1 | ZCCHC8 |
Rebecca Foulger gene: ZCCHC8 was added gene: ZCCHC8 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZCCHC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZCCHC8 were set to 21937992 Phenotypes for gene: ZCCHC8 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | ZC4H2 | Rebecca Foulger Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580 for gene: ZC4H2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ZC4H2 |
Rebecca Foulger gene: ZC4H2 was added gene: ZC4H2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZC4H2 were set to 4039531; 1915520; 23623388 Phenotypes for gene: ZC4H2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580 |
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| DDG2P v0.1 | ZBTB40 |
Rebecca Foulger gene: ZBTB40 was added gene: ZBTB40 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB40 were set to 21937992 Phenotypes for gene: ZBTB40 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | ZBTB20 |
Rebecca Foulger gene: ZBTB20 was added gene: ZBTB20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZBTB20 were set to 25017102 Phenotypes for gene: ZBTB20 were set to PRIMROSE SYNDROME 259050 Mode of pathogenicity for gene: ZBTB20 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ZBTB18 |
Rebecca Foulger gene: ZBTB18 was added gene: ZBTB18 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZBTB18 were set to ZBTB18 syndrome |
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| DDG2P v0.1 | ZBTB16 |
Rebecca Foulger gene: ZBTB16 was added gene: ZBTB16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZBTB16 were set to SKELETAL DEFECTS GENITAL HYPOPLASIA AND MENTAL RETARDATION 612447 Mode of pathogenicity for gene: ZBTB16 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | YY1 |
Rebecca Foulger gene: YY1 was added gene: YY1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: YY1 were set to 28575647; 21076407 Phenotypes for gene: YY1 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: YY1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | YWHAG |
Rebecca Foulger gene: YWHAG was added gene: YWHAG was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: YWHAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: YWHAG were set to 28777935 Phenotypes for gene: YWHAG were set to Early-Onset Epilepsy Mode of pathogenicity for gene: YWHAG was set to Other - please provide details in the comments |
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| DDG2P v0.1 | YAP1 |
Rebecca Foulger gene: YAP1 was added gene: YAP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: YAP1 were set to 24462371 Phenotypes for gene: YAP1 were set to COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION 120433 |
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| DDG2P v0.1 | XYLT2 |
Rebecca Foulger gene: XYLT2 was added gene: XYLT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26027496 Phenotypes for gene: XYLT2 were set to SPONDYLOOCULAR SYNDROME 605822 |
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| DDG2P v0.1 | XYLT1 |
Rebecca Foulger gene: XYLT1 was added gene: XYLT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT1 were set to 24581741 Phenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2 615777 |
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| DDG2P v0.1 | XRCC4 |
Rebecca Foulger gene: XRCC4 was added gene: XRCC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC4 were set to 25728776 Phenotypes for gene: XRCC4 were set to PRIMORDIAL DWARFISM 615272 |
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| DDG2P v0.1 | XPNPEP3 |
Rebecca Foulger gene: XPNPEP3 was added gene: XPNPEP3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to 20179356 Phenotypes for gene: XPNPEP3 were set to NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1 613159 |
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| DDG2P v0.1 | XPC |
Rebecca Foulger gene: XPC was added gene: XPC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPC were set to 14662655; 11121128; 9804340; 8298653; 19478817; 11511294 Phenotypes for gene: XPC were set to XERODERMA PIGMENTOSUM, GROUP C 278720 |
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| DDG2P v0.1 | XPA |
Rebecca Foulger gene: XPA was added gene: XPA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPA were set to 1339397; 1372102; 2234061; 16098033 Phenotypes for gene: XPA were set to XERODERMA PIGMENTOSUM, GROUP A 278700 |
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| DDG2P v0.1 | WWOX |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 616211 for gene: WWOX Publications for gene WWOX were changed from 24369382 to 24456803 |
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| DDG2P v0.1 | WWOX |
Rebecca Foulger gene: WWOX was added gene: WWOX was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WWOX were set to 24369382 Phenotypes for gene: WWOX were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 614322 |
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| DDG2P v0.1 | WT1 |
Rebecca Foulger Added phenotypes FRASIER SYNDROME FRASIER SYNDROME FRASIER SYNDROME 136680 for gene: WT1 Publications for gene WT1 were changed from 8388765; 1655284; 1302008; 1327525 to 1658787; 9499425; 10571943 |
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| DDG2P v0.1 | WT1 |
Rebecca Foulger gene: WT1 was added gene: WT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WT1 were set to 8388765; 1655284; 1302008; 1327525 Phenotypes for gene: WT1 were set to DENYS-DRASH SYNDROME 194080 Mode of pathogenicity for gene: WT1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | WRAP53 |
Rebecca Foulger gene: WRAP53 was added gene: WRAP53 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WRAP53 were set to 21205863 Phenotypes for gene: WRAP53 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 613988 Mode of pathogenicity for gene: WRAP53 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | WNT7A |
Rebecca Foulger Added phenotypes LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME 276820 for gene: WNT7A Publications for gene WNT7A were changed from 9128926 to 16826533; 21271649; 21344627; 20949531 |
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| DDG2P v0.1 | WNT7A |
Rebecca Foulger gene: WNT7A was added gene: WNT7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT7A were set to 9128926 Phenotypes for gene: WNT7A were set to FUHRMANN SYNDROME 228930 Mode of pathogenicity for gene: WNT7A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | WNT5A |
Rebecca Foulger gene: WNT5A was added gene: WNT5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WNT5A were set to 5771504; 19918918 Phenotypes for gene: WNT5A were set to WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT 180700 Mode of pathogenicity for gene: WNT5A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | WNT4 |
Rebecca Foulger Added phenotypes MULLERIAN APLASIA AND HYPERANDROGENISM 158330 for gene: WNT4 Publications for gene WNT4 were changed from 18179883 to 15317892 |
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| DDG2P v0.1 | WNT4 |
Rebecca Foulger gene: WNT4 was added gene: WNT4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: WNT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WNT4 were set to 18179883 Phenotypes for gene: WNT4 were set to SERKAL SYNDROME 611812 Mode of pathogenicity for gene: WNT4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | WNT3 |
Rebecca Foulger gene: WNT3 was added gene: WNT3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT3 were set to TETRA-AMELIA SYNDROME 276069 |
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| DDG2P v0.1 | WNT10B |
Rebecca Foulger gene: WNT10B was added gene: WNT10B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT10B were set to 20635353; 12072797 Phenotypes for gene: WNT10B were set to SPLIT-HAND/FOOT MALFORMATION TYPE 6 225300 |
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| DDG2P v0.1 | WNT1 |
Rebecca Foulger gene: WNT1 was added gene: WNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT1 were set to 23499309 Phenotypes for gene: WNT1 were set to OSTEOGENESIS IMPERFECTA |
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| DDG2P v0.1 | WDR81 |
Rebecca Foulger gene: WDR81 was added gene: WDR81 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR81 were set to 21885617 Phenotypes for gene: WDR81 were set to CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 610185 Mode of pathogenicity for gene: WDR81 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | WDR73 |
Rebecca Foulger gene: WDR73 was added gene: WDR73 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR73 were set to 25466283 Phenotypes for gene: WDR73 were set to GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME |
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| DDG2P v0.1 | WDR62 |
Rebecca Foulger gene: WDR62 was added gene: WDR62 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR62 were set to 21834044; 10573015; 20890279; 20729831; 20890278 Phenotypes for gene: WDR62 were set to MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION 604317 |
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| DDG2P v0.1 | WDR60 | Rebecca Foulger Added phenotypes SHORT-RIB POLYDACTYLY for gene: WDR60 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | WDR60 |
Rebecca Foulger gene: WDR60 was added gene: WDR60 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR60 were set to 23910462 Phenotypes for gene: WDR60 were set to JEUNE SYNDROMES |
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| DDG2P v0.1 | WDR45B |
Rebecca Foulger gene: WDR45B was added gene: WDR45B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR45B were set to 21937992 Phenotypes for gene: WDR45B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: WDR45B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | WDR45 |
Rebecca Foulger gene: WDR45 was added gene: WDR45 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: WDR45 were set to 23176820 Phenotypes for gene: WDR45 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION |
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| DDG2P v0.1 | WDR35 |
Rebecca Foulger Added phenotypes SHORT RIB-POLYDACTYLY SYNDROME, TYPE V 614091 for gene: WDR35 Publications for gene WDR35 were changed from 20817137 to 21473986 |
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| DDG2P v0.1 | WDR35 |
Rebecca Foulger gene: WDR35 was added gene: WDR35 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR35 were set to 20817137 Phenotypes for gene: WDR35 were set to CRANIOECTODERMAL DYSPLASIA 2 613610 |
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| DDG2P v0.1 | WDR34 | Rebecca Foulger Added phenotypes SEVERE ASPHYXIATING THORACIC DYSPLASIA for gene: WDR34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | WDR34 |
Rebecca Foulger gene: WDR34 was added gene: WDR34 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR34 were set to 24183449 Phenotypes for gene: WDR34 were set to SHORT-RIB POLYDACTYLY SYNDROME TYPE III Mode of pathogenicity for gene: WDR34 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | WDR26 |
Rebecca Foulger gene: WDR26 was added gene: WDR26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WDR26 were set to 28686853 Phenotypes for gene: WDR26 were set to Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features |
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| DDG2P v0.1 | WDR19 |
Rebecca Foulger Added phenotypes ASPHYXIATING THORACIC DYSTROPHY 5 614376 for gene: WDR19 Publications for gene WDR19 were changed from 22019273 to 19430947 |
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| DDG2P v0.1 | WDR19 |
Rebecca Foulger gene: WDR19 was added gene: WDR19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR19 were set to 22019273 Phenotypes for gene: WDR19 were set to CRANIOECTODERMAL DYSPLASIA 4 614378 |
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| DDG2P v0.1 | WDR11 |
Rebecca Foulger gene: WDR11 was added gene: WDR11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WDR11 were set to KALLMANN SYNDROME Mode of pathogenicity for gene: WDR11 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | WDPCP |
Rebecca Foulger gene: WDPCP was added gene: WDPCP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDPCP were set to BARDET-BIEDL SYNDROME TYPE 15 209900 |
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| DDG2P v0.1 | WAC |
Rebecca Foulger Added phenotypes WAC syndrome for gene: WAC Publications for gene WAC were changed from 26757981 to 26264232 |
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| DDG2P v0.1 | WAC |
Rebecca Foulger gene: WAC was added gene: WAC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WAC were set to 26757981 Phenotypes for gene: WAC were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | VSX2 | Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED TYPE 2 610093 for gene: VSX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | VSX2 | Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3 610092 for gene: VSX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | VSX2 |
Rebecca Foulger gene: VSX2 was added gene: VSX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VSX2 were set to MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES 610092 |
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| DDG2P v0.1 | VRK1 |
Rebecca Foulger gene: VRK1 was added gene: VRK1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VRK1 were set to 19646678; 21937992 Phenotypes for gene: VRK1 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596 |
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| DDG2P v0.1 | VPS33B |
Rebecca Foulger gene: VPS33B was added gene: VPS33B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 319164 |
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| DDG2P v0.1 | VPS13B |
Rebecca Foulger gene: VPS13B was added gene: VPS13B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13B were set to COHEN SYNDROME 193538 |
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| DDG2P v0.1 | VLDLR |
Rebecca Foulger gene: VLDLR was added gene: VLDLR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VLDLR were set to 18043714; 18326629; 16080122 Phenotypes for gene: VLDLR were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 224050 |
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| DDG2P v0.1 | VIPAS39 |
Rebecca Foulger gene: VIPAS39 was added gene: VIPAS39 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 613404 |
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| DDG2P v0.1 | VIP |
Rebecca Foulger gene: VIP was added gene: VIP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: VIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VIP were set to 23849776 Phenotypes for gene: VIP were set to ASPERGER |
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| DDG2P v0.1 | VDR |
Rebecca Foulger gene: VDR was added gene: VDR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VDR were set to 2849209; 8675579; 3024987; 8961271; 9360557; 2557627; 8392085; 2177843; 17970811; 11564167; 2558018 Phenotypes for gene: VDR were set to RICKETS VITAMIN D-DEPENDENT TYPE 2A 277440 |
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| DDG2P v0.1 | VANGL1 |
Rebecca Foulger gene: VANGL1 was added gene: VANGL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: VANGL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VANGL1 were set to 17409324 Phenotypes for gene: VANGL1 were set to NEURAL TUBE DEFECTS 182940 Mode of pathogenicity for gene: VANGL1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | VAC14 |
Rebecca Foulger gene: VAC14 was added gene: VAC14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VAC14 were set to 27292112 Phenotypes for gene: VAC14 were set to Progressive neurological disorder and regression of developmental milestones Mode of pathogenicity for gene: VAC14 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | UVSSA |
Rebecca Foulger gene: UVSSA was added gene: UVSSA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UVSSA were set to UV-SENSITIVE SYNDROME 609413 |
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| DDG2P v0.1 | UTP4 |
Rebecca Foulger gene: UTP4 was added gene: UTP4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: UTP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UTP4 were set to 12417987 Phenotypes for gene: UTP4 were set to NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 205306 Mode of pathogenicity for gene: UTP4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | USP9X | Rebecca Foulger Added phenotypes MENTAL RETARDATION, X-LINKED 99 300919 for gene: USP9X | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | USP9X |
Rebecca Foulger gene: USP9X was added gene: USP9X was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: USP9X were set to 24607389; 26833328 Phenotypes for gene: USP9X were set to MENTAL RETARDATION, X-LINKED 99 300919 |
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| DDG2P v0.1 | USP7 |
Rebecca Foulger gene: USP7 was added gene: USP7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: USP7 was set to Publications for gene: USP7 were set to 26365382 Phenotypes for gene: USP7 were set to Intellectual disability, autism, epilepsy, aggressive behaviour, hypotonia, and hypogonadism |
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| DDG2P v0.1 | USP27X |
Rebecca Foulger gene: USP27X was added gene: USP27X was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: USP27X were set to 25644381 Phenotypes for gene: USP27X were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | USP18 |
Rebecca Foulger gene: USP18 was added gene: USP18 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP18 were set to 27325888 Phenotypes for gene: USP18 were set to Severe pseudo-TORCH syndrome |
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| DDG2P v0.1 | USB1 |
Rebecca Foulger gene: USB1 was added gene: USB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USB1 were set to 23190533; 23393019; 25044170 Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia |
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| DDG2P v0.1 | UROS |
Rebecca Foulger gene: UROS was added gene: UROS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROS were set to 7860775; 11254675; 19965637; 9834209; 1733834; 8946173; 12060141; 2331520 Phenotypes for gene: UROS were set to CONGENITAL ERYTHROPOIETIC PORPHYRIA 263700 |
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| DDG2P v0.1 | UROC1 |
Rebecca Foulger gene: UROC1 was added gene: UROC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROC1 were set to 19304569 Phenotypes for gene: UROC1 were set to UROCANASE DEFICIENCY 276880 Mode of pathogenicity for gene: UROC1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | UQCRQ |
Rebecca Foulger gene: UQCRQ was added gene: UQCRQ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRQ were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED 319211 Mode of pathogenicity for gene: UQCRQ was set to Other - please provide details in the comments |
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| DDG2P v0.1 | UQCRB |
Rebecca Foulger gene: UQCRB was added gene: UQCRB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRB were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED 257827 |
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| DDG2P v0.1 | UPF3B |
Rebecca Foulger gene: UPF3B was added gene: UPF3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: UPF3B were set to 17704778 Phenotypes for gene: UPF3B were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 300676 |
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| DDG2P v0.1 | UNC80 |
Rebecca Foulger gene: UNC80 was added gene: UNC80 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC80 were set to 26708751; 26708753 Phenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability |
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| DDG2P v0.1 | UMPS |
Rebecca Foulger gene: UMPS was added gene: UMPS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UMPS were set to 9042911 Phenotypes for gene: UMPS were set to OROTIC ACIDURIA TYPE 1 258900 |
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| DDG2P v0.1 | UGT1A1 |
Rebecca Foulger gene: UGT1A1 was added gene: UGT1A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGT1A1 were set to 11968090; 9039987; 9497253; 9295054 Phenotypes for gene: UGT1A1 were set to CRIGLER-NAJJAR SYNDROME, TYPE I 218800 |
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| DDG2P v0.1 | UFM1 |
Rebecca Foulger gene: UFM1 was added gene: UFM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFM1 were set to 29868776 Phenotypes for gene: UFM1 were set to Severe early-onset encephalopathy with progressive microcephaly, |
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| DDG2P v0.1 | UFC1 |
Rebecca Foulger gene: UFC1 was added gene: UFC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UFC1 was set to Phenotypes for gene: UFC1 were set to Severe early-onset encephalopathy with progressive microcephaly |
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| DDG2P v0.1 | UBTF |
Rebecca Foulger gene: UBTF was added gene: UBTF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBTF were set to 28777933 Phenotypes for gene: UBTF were set to Childhood-Onset Neurodegeneration Mode of pathogenicity for gene: UBTF was set to Other - please provide details in the comments |
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| DDG2P v0.1 | UBR7 |
Rebecca Foulger gene: UBR7 was added gene: UBR7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBR7 were set to 21937992 Phenotypes for gene: UBR7 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: UBR7 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | UBR1 |
Rebecca Foulger gene: UBR1 was added gene: UBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBR1 were set to 16311597; 19006206; 18553553 Phenotypes for gene: UBR1 were set to JOHANSON-BLIZZARD SYNDROME 243800 |
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| DDG2P v0.1 | UBE3B |
Rebecca Foulger gene: UBE3B was added gene: UBE3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE3B were set to 21567902; 23200864 Phenotypes for gene: UBE3B were set to BLEPHAROPHIMOSIS-MENTAL RETARDATION 615057 |
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| DDG2P v0.1 | UBE3A |
Rebecca Foulger gene: UBE3A was added gene: UBE3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: UBE3A were set to ANGELMAN SYNDROME 105830 |
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| DDG2P v0.1 | UBE2T |
Rebecca Foulger gene: UBE2T was added gene: UBE2T was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE2T were set to 26046368 Phenotypes for gene: UBE2T were set to FANCONI ANEMIA, COMPLEMENTATION GROUP T 616435 |
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| DDG2P v0.1 | UBE2A |
Rebecca Foulger gene: UBE2A was added gene: UBE2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBE2A were set to UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION 319562 |
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| DDG2P v0.1 | UBA5 |
Rebecca Foulger gene: UBA5 was added gene: UBA5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBA5 were set to 27545674; 27545681 Phenotypes for gene: UBA5 were set to Severe Infantile-Onset Encephalopathy |
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| DDG2P v0.1 | TYRP1 |
Rebecca Foulger gene: TYRP1 was added gene: TYRP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYRP1 were set to 8651291; 15996218; 19533799; 16704458 Phenotypes for gene: TYRP1 were set to OCULOCUTANEOUS ALBINISM TYPE 3 203290 |
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| DDG2P v0.1 | TYR |
Rebecca Foulger gene: TYR was added gene: TYR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to OCULOCUTANEOUS ALBINISM TYPE 1 203100 |
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| DDG2P v0.1 | TXNL4A |
Rebecca Foulger gene: TXNL4A was added gene: TXNL4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXNL4A were set to 25434003 Phenotypes for gene: TXNL4A were set to BURN MCKEOWN SYNDROME 608572 |
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| DDG2P v0.1 | TWIST2 |
Rebecca Foulger Added phenotypes SETLEIS SYNDROME 227260 for gene: TWIST2 Publications for gene TWIST2 were changed from 26119818 to 8818454; 21931173; 14069095 |
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| DDG2P v0.1 | TWIST2 |
Rebecca Foulger gene: TWIST2 was added gene: TWIST2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TWIST2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TWIST2 were set to 26119818 Phenotypes for gene: TWIST2 were set to ABLEPHARON MACROSTOMIA SYNDROME 200110 |
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| DDG2P v0.1 | TWIST1 |
Rebecca Foulger Added phenotypes CRANIOSYNOSTOSIS, TYPE 1 123100 for gene: TWIST1 Publications for gene TWIST1 were changed from 8988167; 9259286; 8988166 to 17343269 |
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| DDG2P v0.1 | TWIST1 |
Rebecca Foulger gene: TWIST1 was added gene: TWIST1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TWIST1 were set to 8988167; 9259286; 8988166 Phenotypes for gene: TWIST1 were set to SAETHRE-CHOTZEN SYNDROME 101400 |
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| DDG2P v0.1 | TUSC3 |
Rebecca Foulger gene: TUSC3 was added gene: TUSC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUSC3 were set to 18455129; 21739581 Phenotypes for gene: TUSC3 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 611093 |
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| DDG2P v0.1 | TUFM |
Rebecca Foulger gene: TUFM was added gene: TUFM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUFM were set to 17160893 Phenotypes for gene: TUFM were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 610678 Mode of pathogenicity for gene: TUFM was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TUBGCP6 |
Rebecca Foulger gene: TUBGCP6 was added gene: TUBGCP6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP6 were set to 22279524 Phenotypes for gene: TUBGCP6 were set to MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION 251270 |
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| DDG2P v0.1 | TUBGCP4 |
Rebecca Foulger gene: TUBGCP4 was added gene: TUBGCP4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP4 were set to 25817018 Phenotypes for gene: TUBGCP4 were set to AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY. |
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| DDG2P v0.1 | TUBG1 |
Rebecca Foulger gene: TUBG1 was added gene: TUBG1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBG1 were set to 23603762 Phenotypes for gene: TUBG1 were set to Posteriorly predominant pachygyria and severe microcephaly Mode of pathogenicity for gene: TUBG1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TUBB4A |
Rebecca Foulger gene: TUBB4A was added gene: TUBB4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB4A were set to 23582646 Phenotypes for gene: TUBB4A were set to HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM Mode of pathogenicity for gene: TUBB4A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TUBB3 |
Rebecca Foulger Added phenotypes CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 614039 for gene: TUBB3 Publications for gene TUBB3 were changed from 20074521 to 20829227 |
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| DDG2P v0.1 | TUBB3 |
Rebecca Foulger gene: TUBB3 was added gene: TUBB3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB3 were set to 20074521 Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES 600638 Mode of pathogenicity for gene: TUBB3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TUBB2B |
Rebecca Foulger gene: TUBB2B was added gene: TUBB2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB2B were set to 19465910; 22333901 Phenotypes for gene: TUBB2B were set to POLYMICROGYRIA ASYMMETRIC 610031 Mode of pathogenicity for gene: TUBB2B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TUBB2A |
Rebecca Foulger gene: TUBB2A was added gene: TUBB2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB2A were set to 24702957 Phenotypes for gene: TUBB2A were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 615763 Mode of pathogenicity for gene: TUBB2A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TUBB |
Rebecca Foulger Added phenotypes Circumferential Skin Creases Kunze Type for gene: TUBB Publications for gene TUBB were changed from 23246003 to 26637975 |
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| DDG2P v0.1 | TUBB |
Rebecca Foulger gene: TUBB was added gene: TUBB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB were set to 23246003 Phenotypes for gene: TUBB were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771 Mode of pathogenicity for gene: TUBB was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TUBA8 |
Rebecca Foulger gene: TUBA8 was added gene: TUBA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBA8 were set to 19896110 Phenotypes for gene: TUBA8 were set to POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA 613180 |
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| DDG2P v0.1 | TUBA1A |
Rebecca Foulger Added phenotypes LISSENCEPHALY TYPE 3 611603 for gene: TUBA1A Publications for gene TUBA1A were changed from to 17218254; 30016746; 18728072; 18954413; 21403111; 17584854 |
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| DDG2P v0.1 | TUBA1A |
Rebecca Foulger gene: TUBA1A was added gene: TUBA1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBA1A were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | TTN |
Rebecca Foulger gene: TTN was added gene: TTN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 17444505 Phenotypes for gene: TTN were set to CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY 611705 |
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| DDG2P v0.1 | TTI2 |
Rebecca Foulger gene: TTI2 was added gene: TTI2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTI2 were set to 21937992 Phenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: TTI2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TTC8 | Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 8 209900 for gene: TTC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TTC8 |
Rebecca Foulger gene: TTC8 was added gene: TTC8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC8 were set to 20451172 Phenotypes for gene: TTC8 were set to RETINITIS PIGMENTOSA TYPE 51 613464 |
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| DDG2P v0.1 | TTC7A |
Rebecca Foulger gene: TTC7A was added gene: TTC7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC7A were set to 23423984 Phenotypes for gene: TTC7A were set to INTESTINAL ATRESIA, MULTIPLE 243150 |
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| DDG2P v0.1 | TTC37 |
Rebecca Foulger gene: TTC37 was added gene: TTC37 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC37 were set to 20176027; 21120949 Phenotypes for gene: TTC37 were set to TRICHOHEPATOENTERIC SYNDROME 222470 |
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| DDG2P v0.1 | TTC25 |
Rebecca Foulger gene: TTC25 was added gene: TTC25 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC25 were set to 27486780 Phenotypes for gene: TTC25 were set to Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization |
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| DDG2P v0.1 | TTC19 |
Rebecca Foulger gene: TTC19 was added gene: TTC19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC19 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY 124000 |
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| DDG2P v0.1 | TSPAN7 |
Rebecca Foulger gene: TSPAN7 was added gene: TSPAN7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TSPAN7 were set to 10449641; 10655063 Phenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58 300210 |
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| DDG2P v0.1 | TSHZ1 |
Rebecca Foulger gene: TSHZ1 was added gene: TSHZ1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TSHZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TSHZ1 were set to 22152683 Phenotypes for gene: TSHZ1 were set to AURAL ATRESIA, CONGENITAL 607842 |
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| DDG2P v0.1 | TSHR |
Rebecca Foulger Added phenotypes HYPERTHYROIDISM, FAMILIAL GESTATIONAL 603373 for gene: TSHR Publications for gene TSHR were changed from 9329388; 7528344; 11095460; 9185526; 8954020; 10720030; 9589691; 12050212; 9100579 to 9854118 |
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| DDG2P v0.1 | TSHR |
Rebecca Foulger gene: TSHR was added gene: TSHR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TSHR were set to 9329388; 7528344; 11095460; 9185526; 8954020; 10720030; 9589691; 12050212; 9100579 Phenotypes for gene: TSHR were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 275200 Mode of pathogenicity for gene: TSHR was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TSHB |
Rebecca Foulger gene: TSHB was added gene: TSHB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSHB were set to 2792087 Phenotypes for gene: TSHB were set to HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4 275100 |
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| DDG2P v0.1 | TSEN54 |
Rebecca Foulger gene: TSEN54 was added gene: TSEN54 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN54 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 |
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| DDG2P v0.1 | TSEN34 |
Rebecca Foulger gene: TSEN34 was added gene: TSEN34 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 Mode of pathogenicity for gene: TSEN34 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TSEN2 |
Rebecca Foulger gene: TSEN2 was added gene: TSEN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 Mode of pathogenicity for gene: TSEN2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TSEN15 |
Rebecca Foulger gene: TSEN15 was added gene: TSEN15 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN15 were set to 27392077 Phenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly Mode of pathogenicity for gene: TSEN15 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TSC2 |
Rebecca Foulger Added phenotypes TUBEROUS SCLEROSIS TYPE 2 613254 for gene: TSC2 Publications for gene TSC2 were changed from to 8825048; 10206124; 9463313; 19259131; 7581393; 8634701; 9302281; 11403047; 17120248; 8824881; 12752578; 9361032; 10069705 |
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| DDG2P v0.1 | TSC2 |
Rebecca Foulger gene: TSC2 was added gene: TSC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TSC2 were set to LYMPHANGIOLEIOMYOMATOSIS 606690 |
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| DDG2P v0.1 | TSC1 |
Rebecca Foulger gene: TSC1 was added gene: TSC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TSC1 were set to 10053179; 10340649; 18830229; 9242607 Phenotypes for gene: TSC1 were set to TUBEROUS SCLEROSIS TYPE 1 191100 |
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| DDG2P v0.1 | TRPV4 |
Rebecca Foulger Added phenotypes METATROPIC DYSPLASIA 156530 for gene: TRPV4 Publications for gene TRPV4 were changed from 20577006; 19232556 to 20577006; 20425821; 21964829; 19232556 |
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| DDG2P v0.1 | TRPV4 |
Rebecca Foulger gene: TRPV4 was added gene: TRPV4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPV4 were set to 20577006; 19232556 Phenotypes for gene: TRPV4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE 184252 Mode of pathogenicity for gene: TRPV4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TRPV3 |
Rebecca Foulger gene: TRPV3 was added gene: TRPV3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPV3 were set to 22405088 Phenotypes for gene: TRPV3 were set to OLMSTED SYNDROME 614594 Mode of pathogenicity for gene: TRPV3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TRPS1 |
Rebecca Foulger gene: TRPS1 was added gene: TRPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPS1 were set to 11359471; 14560312; 10615131 Phenotypes for gene: TRPS1 were set to TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1 190350 |
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| DDG2P v0.1 | TRPM1 |
Rebecca Foulger gene: TRPM1 was added gene: TRPM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPM1 were set to 19878917; 20300565; 19896109; 19896113 Phenotypes for gene: TRPM1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 613216 |
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| DDG2P v0.1 | TRMT10C |
Rebecca Foulger gene: TRMT10C was added gene: TRMT10C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRMT10C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT10C were set to 27132592 Phenotypes for gene: TRMT10C were set to Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies Mode of pathogenicity for gene: TRMT10C was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TRMT1 |
Rebecca Foulger gene: TRMT1 was added gene: TRMT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT1 were set to 21937992 Phenotypes for gene: TRMT1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | TRIT1 |
Rebecca Foulger gene: TRIT1 was added gene: TRIT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIT1 were set to 24901367 Phenotypes for gene: TRIT1 were set to tRNA isopentenyltransferase deficiency Mode of pathogenicity for gene: TRIT1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TRIP4 |
Rebecca Foulger gene: TRIP4 was added gene: TRIP4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP4 were set to 26924529 Phenotypes for gene: TRIP4 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures |
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| DDG2P v0.1 | TRIP13 |
Rebecca Foulger gene: TRIP13 was added gene: TRIP13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP13 were set to 28553959 Phenotypes for gene: TRIP13 were set to Mosaic Variegated Aneuploidy and Wilms Tumour |
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| DDG2P v0.1 | TRIP12 |
Rebecca Foulger gene: TRIP12 was added gene: TRIP12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIP12 were set to 28251352; 27848077 Phenotypes for gene: TRIP12 were set to TRIP12-related intellectual disability with/without autism spectrum disorder |
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| DDG2P v0.1 | TRIP11 |
Rebecca Foulger gene: TRIP11 was added gene: TRIP11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP11 were set to 20089971 Phenotypes for gene: TRIP11 were set to ACHONDROGENESIS TYPE 1A 200600 |
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| DDG2P v0.1 | TRIO |
Rebecca Foulger gene: TRIO was added gene: TRIO was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIO were set to 26235986 Phenotypes for gene: TRIO were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: TRIO was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TRIM37 |
Rebecca Foulger gene: TRIM37 was added gene: TRIM37 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM37 were set to MULIBREY NANISM 213300 |
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| DDG2P v0.1 | TRIM32 |
Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H 254110 for gene: TRIM32 Publications for gene TRIM32 were changed from to 11822024; 17994549 |
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| DDG2P v0.1 | TRIM32 |
Rebecca Foulger gene: TRIM32 was added gene: TRIM32 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM32 were set to BARDET-BIEDL SYNDROME TYPE 11 209900 |
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| DDG2P v0.1 | TREX1 |
Rebecca Foulger gene: TREX1 was added gene: TREX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TREX1 were set to 17357087; 16845398 Phenotypes for gene: TREX1 were set to AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE 225750 |
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| DDG2P v0.1 | TRAPPC9 |
Rebecca Foulger gene: TRAPPC9 was added gene: TRAPPC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC9 were set to 22549410; 20004763; 17120046; 20004764 Phenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13 613192 |
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| DDG2P v0.1 | TRAPPC2 |
Rebecca Foulger gene: TRAPPC2 was added gene: TRAPPC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA 313400 |
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| DDG2P v0.1 | TRAPPC12 |
Rebecca Foulger gene: TRAPPC12 was added gene: TRAPPC12 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC12 was set to Publications for gene: TRAPPC12 were set to 28777934 Phenotypes for gene: TRAPPC12 were set to Progressive Childhood Encephalopathy and Golgi Dysfunction |
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| DDG2P v0.1 | TRAPPC11 |
Rebecca Foulger gene: TRAPPC11 was added gene: TRAPPC11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC11 were set to 23830518 Phenotypes for gene: TRAPPC11 were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S 615356 |
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| DDG2P v0.1 | TRAIP |
Rebecca Foulger gene: TRAIP was added gene: TRAIP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAIP were set to 26595769 Phenotypes for gene: TRAIP were set to PRIMORDIAL DWARFISM 615272 |
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| DDG2P v0.1 | TRAF7 | Rebecca Foulger Added phenotypes Developmental Delay, Congenital Anomalies, and Dysmorphic Features for gene: TRAF7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TRAF7 |
Rebecca Foulger gene: TRAF7 was added gene: TRAF7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRAF7 were set to 29961569 Phenotypes for gene: TRAF7 were set to Developmental delay, congenital malformations and dysmorphism Mode of pathogenicity for gene: TRAF7 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TPP1 |
Rebecca Foulger gene: TPP1 was added gene: TPP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPP1 were set to 9295267; 12414822; 10330339; 12376936; 10665500; 17959406 Phenotypes for gene: TPP1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 204500 |
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| DDG2P v0.1 | TPM2 |
Rebecca Foulger gene: TPM2 was added gene: TPM2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TPM2 were set to 12592607 Phenotypes for gene: TPM2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 1 Mode of pathogenicity for gene: TPM2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TP63 |
Rebecca Foulger Added phenotypes LIMB-MAMMARY SYNDROME 603543 for gene: TP63 Publications for gene TP63 were changed from 11528512; 11929852; 16114047; 19530185; 16724007 to 11462173 |
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| DDG2P v0.1 | TP63 |
Rebecca Foulger Added phenotypes ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME 103285 for gene: TP63 Publications for gene TP63 were changed from 16740912; 12939657; 14684701; 17609671; 12766194 to 11528512; 11929852; 16114047; 19530185; 16724007 |
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| DDG2P v0.1 | TP63 | Rebecca Foulger Added phenotypes ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE 129400 for gene: TP63 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TP63 |
Rebecca Foulger Added phenotypes NON-SYNDROMIC OROFACIAL CLEFT TYPE 8 129400 for gene: TP63 Publications for gene TP63 were changed from 19239083; 11159940; 10886756 to 16740912; 12939657; 14684701; 17609671; 12766194 |
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| DDG2P v0.1 | TP63 |
Rebecca Foulger Added phenotypes ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE 106260 for gene: TP63 Publications for gene TP63 were changed from 3366140; 10839977; 15736220 to 19239083; 11159940; 10886756 |
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| DDG2P v0.1 | TP63 |
Rebecca Foulger Added phenotypes SPLIT-HAND/FOOT MALFORMATION TYPE 4 605289 for gene: TP63 Publications for gene TP63 were changed from 10535733; 9443880; 12838557; 10839977; 21204238 to 3366140; 10839977; 15736220 |
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| DDG2P v0.1 | TP63 |
Rebecca Foulger gene: TP63 was added gene: TP63 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TP63 were set to 10535733; 9443880; 12838557; 10839977; 21204238 Phenotypes for gene: TP63 were set to ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3 604292 |
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| DDG2P v0.1 | TOE1 |
Rebecca Foulger gene: TOE1 was added gene: TOE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOE1 were set to 28092684 Phenotypes for gene: TOE1 were set to PONTOCEREBELLAR HYPOPLASIA |
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| DDG2P v0.1 | TNFRSF13B |
Rebecca Foulger gene: TNFRSF13B was added gene: TNFRSF13B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF13B were set to 16007086 Phenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2 240500 |
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| DDG2P v0.1 | TMTC3 |
Rebecca Foulger gene: TMTC3 was added gene: TMTC3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMTC3 were set to 27773428 Phenotypes for gene: TMTC3 were set to Cobblestone Lissencephaly |
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| DDG2P v0.1 | TMPRSS6 |
Rebecca Foulger gene: TMPRSS6 was added gene: TMPRSS6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMPRSS6 were set to 19592582; 19357398; 18596229; 18408718 Phenotypes for gene: TMPRSS6 were set to IRON-REFRACTORY IRON DEFICIENCY ANEMIA 206200 |
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| DDG2P v0.1 | TMEM70 |
Rebecca Foulger gene: TMEM70 was added gene: TMEM70 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM70 were set to 18953340; 21147908 Phenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 614052 |
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| DDG2P v0.1 | TMEM67 |
Rebecca Foulger Added phenotypes NEPHRONOPHTHISIS TYPE 11 613550 for gene: TMEM67 Publications for gene TMEM67 were changed from 17377820; 16415887 to 19508969 |
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| DDG2P v0.1 | TMEM67 | Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 6 610688 for gene: TMEM67 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TMEM67 |
Rebecca Foulger Added phenotypes MECKEL SYNDROME TYPE 3 607361 for gene: TMEM67 Publications for gene TMEM67 were changed from to 17377820; 16415887 |
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| DDG2P v0.1 | TMEM67 |
Rebecca Foulger gene: TMEM67 was added gene: TMEM67 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to COACH SYNDROM 216360 |
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| DDG2P v0.1 | TMEM5 |
Rebecca Foulger gene: TMEM5 was added gene: TMEM5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM5 were set to 23217329; 23519211 Phenotypes for gene: TMEM5 were set to SEVERE COBBLESTONE LISSENCEPHALY 615041 |
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| DDG2P v0.1 | TMEM260 |
Rebecca Foulger gene: TMEM260 was added gene: TMEM260 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM260 were set to 28318500 Phenotypes for gene: TMEM260 were set to Neurodevelopmental, Cardiac, and Renal Syndrome |
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| DDG2P v0.1 | TMEM237 |
Rebecca Foulger gene: TMEM237 was added gene: TMEM237 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM237 were set to 22152675; 14760273; 17603801 Phenotypes for gene: TMEM237 were set to JOUBERT SYNDROME 14 614424 |
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| DDG2P v0.1 | TMEM216 |
Rebecca Foulger gene: TMEM216 was added gene: TMEM216 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM216 were set to 20036350; 20512146 Phenotypes for gene: TMEM216 were set to JOUBERT SYNDROME 2 608091 Mode of pathogenicity for gene: TMEM216 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TMEM199 |
Rebecca Foulger gene: TMEM199 was added gene: TMEM199 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM199 were set to 26833330 Phenotypes for gene: TMEM199 were set to Disorder of Golgi homeostasis |
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| DDG2P v0.1 | TMEM165 |
Rebecca Foulger gene: TMEM165 was added gene: TMEM165 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM165 were set to 22683087 Phenotypes for gene: TMEM165 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK 614727 |
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| DDG2P v0.1 | TMEM135 |
Rebecca Foulger gene: TMEM135 was added gene: TMEM135 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TMEM135 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM135 were set to 21937992 Phenotypes for gene: TMEM135 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: TMEM135 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TMEM126B |
Rebecca Foulger gene: TMEM126B was added gene: TMEM126B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM126B were set to 27374774; 27374773 Phenotypes for gene: TMEM126B were set to Muscle Weakness and Isolated Complex I Deficiency |
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| DDG2P v0.1 | TMEM114 |
Rebecca Foulger gene: TMEM114 was added gene: TMEM114 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TMEM114 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM114 were set to 17492639 Phenotypes for gene: TMEM114 were set to CONGENITAL AND JUVENILE CATARACT 611579 |
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| DDG2P v0.1 | TMCO1 |
Rebecca Foulger gene: TMCO1 was added gene: TMCO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMCO1 were set to 20018682 Phenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME 213980 |
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| DDG2P v0.1 | TM4SF20 |
Rebecca Foulger gene: TM4SF20 was added gene: TM4SF20 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TM4SF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TM4SF20 were set to 23810381 Phenotypes for gene: TM4SF20 were set to SPECIFIC LANGUAGE IMPAIRMENT 5 615432 |
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| DDG2P v0.1 | TLL1 |
Rebecca Foulger gene: TLL1 was added gene: TLL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TLL1 were set to 18830233 Phenotypes for gene: TLL1 were set to ATRIAL SEPTAL DEFECT TYPE 6 613087 Mode of pathogenicity for gene: TLL1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TLK2 |
Rebecca Foulger gene: TLK2 was added gene: TLK2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TLK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TLK2 were set to 27479843 Phenotypes for gene: TLK2 were set to TLK2 syndrome |
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| DDG2P v0.1 | TKT |
Rebecca Foulger gene: TKT was added gene: TKT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TKT were set to 27259054 Phenotypes for gene: TKT were set to Short Stature, Developmental Delay, and Congenital Heart Defects |
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| DDG2P v0.1 | TK2 |
Rebecca Foulger gene: TK2 was added gene: TK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TK2 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM 258276 Mode of pathogenicity for gene: TK2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TINF2 |
Rebecca Foulger gene: TINF2 was added gene: TINF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TINF2 were set to 18252230 Phenotypes for gene: TINF2 were set to EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE |
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| DDG2P v0.1 | TIMM8A | Rebecca Foulger Added phenotypes MOHR-TRANEBJAERG SYNDROME 304700 for gene: TIMM8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TIMM8A |
Rebecca Foulger gene: TIMM8A was added gene: TIMM8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to JENSEN SYNDROME 311150 |
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| DDG2P v0.1 | THRA |
Rebecca Foulger gene: THRA was added gene: THRA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: THRA were set to 22168587; 22494134 Phenotypes for gene: THRA were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 614450 |
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| DDG2P v0.1 | THOC6 |
Rebecca Foulger gene: THOC6 was added gene: THOC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: THOC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THOC6 were set to 27295358; 23621916; 26739162 Phenotypes for gene: THOC6 were set to Beaulieu-Boycott-Innes syndrome |
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| DDG2P v0.1 | THOC2 |
Rebecca Foulger gene: THOC2 was added gene: THOC2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: THOC2 were set to 26166480 Phenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12 300957 Mode of pathogenicity for gene: THOC2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | THAP1 |
Rebecca Foulger gene: THAP1 was added gene: THAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: THAP1 were set to DYSTONIA 6, TORSION 602629 |
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| DDG2P v0.1 | TH |
Rebecca Foulger gene: TH was added gene: TH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TH were set to 17696123; 8528210; 7814018; 9703425; 10585338; 21937992; 8817341; 9732974; 11246459 Phenotypes for gene: TH were set to DOPA-RESPONSIVE DYSTONIA 605407 |
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| DDG2P v0.1 | TGIF1 |
Rebecca Foulger gene: TGIF1 was added gene: TGIF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGIF1 were set to HOLOPROSENCEPHALY 609637 |
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| DDG2P v0.1 | TGFBR2 | Rebecca Foulger Added phenotypes TGFBR2-RELATED LOEYS-DIETZ SYNDROME 249163 for gene: TGFBR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TGFBR2 |
Rebecca Foulger gene: TGFBR2 was added gene: TGFBR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFBR2 were set to LOEYS-DIETZ SYNDROME |
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| DDG2P v0.1 | TGFBR1 |
Rebecca Foulger Added phenotypes AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 608967 for gene: TGFBR1 Publications for gene TGFBR1 were changed from 16596670; 15731757 to 16791849; 16928994; 18070134 |
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| DDG2P v0.1 | TGFBR1 |
Rebecca Foulger Added phenotypes LOEYS-DIETZ SYNDROME TYPE 1A 609192 for gene: TGFBR1 Publications for gene TGFBR1 were changed from 16791849; 16928994; 18070134 to 16596670; 15731757 |
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| DDG2P v0.1 | TGFBR1 |
Rebecca Foulger gene: TGFBR1 was added gene: TGFBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFBR1 were set to 16791849; 16928994; 18070134 Phenotypes for gene: TGFBR1 were set to LOEYS-DIETZ SYNDROME TYPE 2A 608967 Mode of pathogenicity for gene: TGFBR1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TGFB3 |
Rebecca Foulger gene: TGFB3 was added gene: TGFB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFB3 were set to 24798638 Phenotypes for gene: TGFB3 were set to LOEYS-DIETZ SYNDROME |
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| DDG2P v0.1 | TGFB2 |
Rebecca Foulger gene: TGFB2 was added gene: TGFB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFB2 were set to LOEYS-DIETZ SYNDROME, TYPE 4 614816 |
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| DDG2P v0.1 | TGFB1 |
Rebecca Foulger gene: TGFB1 was added gene: TGFB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFB1 were set to 10973241; 15103729; 11062463 Phenotypes for gene: TGFB1 were set to CAMURATI-ENGELMANN DISEASE 131300 Mode of pathogenicity for gene: TGFB1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TGDS |
Rebecca Foulger gene: TGDS was added gene: TGDS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TGDS were set to 25480037 Phenotypes for gene: TGDS were set to CATEL-MANZKE SYNDROME 616145 |
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| DDG2P v0.1 | TFRC |
Rebecca Foulger gene: TFRC was added gene: TFRC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFRC were set to 26642240 Phenotypes for gene: TFRC were set to Combined immunodeficiency Mode of pathogenicity for gene: TFRC was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TFAP2B |
Rebecca Foulger gene: TFAP2B was added gene: TFAP2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TFAP2B were set to 11505339; 10802654; 7645594 Phenotypes for gene: TFAP2B were set to CHAR SYNDROME 169100 Mode of pathogenicity for gene: TFAP2B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TFAP2A |
Rebecca Foulger gene: TFAP2A was added gene: TFAP2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TFAP2A were set to BRANCHIOOCULOFACIAL SYNDROME 113620 Mode of pathogenicity for gene: TFAP2A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TERT |
Rebecca Foulger gene: TERT was added gene: TERT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TERT were set to 17785587 Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4 Mode of pathogenicity for gene: TERT was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TERC |
Rebecca Foulger gene: TERC was added gene: TERC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TERC were set to 12090986 Phenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1 |
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| DDG2P v0.1 | TELO2 |
Rebecca Foulger gene: TELO2 was added gene: TELO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TELO2 were set to 27132593 Phenotypes for gene: TELO2 were set to TELO2 Syndromic Intellectual Disability Disorder Mode of pathogenicity for gene: TELO2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TEK |
Rebecca Foulger gene: TEK was added gene: TEK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TEK were set to 19888299; 7833915; 10369874 Phenotypes for gene: TEK were set to VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 600195 Mode of pathogenicity for gene: TEK was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TECPR2 |
Rebecca Foulger gene: TECPR2 was added gene: TECPR2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TECPR2 were set to 23176824 Phenotypes for gene: TECPR2 were set to HEREDITARY SPASTIC PARAPARESIS 615031 |
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| DDG2P v0.1 | TDRD7 |
Rebecca Foulger gene: TDRD7 was added gene: TDRD7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TDRD7 were set to CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4 613887 Mode of pathogenicity for gene: TDRD7 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TCTN3 |
Rebecca Foulger gene: TCTN3 was added gene: TCTN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN3 were set to 22883145 Phenotypes for gene: TCTN3 were set to MOHR-MAJEWSKI SYNDROME 258860 |
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| DDG2P v0.1 | TCTN2 |
Rebecca Foulger gene: TCTN2 was added gene: TCTN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN2 were set to JOUBERT SYNDROME AND RELATED DISORDERS 194263 |
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| DDG2P v0.1 | TCTN1 |
Rebecca Foulger gene: TCTN1 was added gene: TCTN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN1 were set to JOUBERT SYNDROME AND RELATED DISORDERS 194263 |
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| DDG2P v0.1 | TCOF1 |
Rebecca Foulger gene: TCOF1 was added gene: TCOF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCOF1 were set to 15039977; 11013442; 9096354; 8563749; 12114482; 15214011; 14598341 Phenotypes for gene: TCOF1 were set to TREACHER COLLINS SYNDROME TYPE 1 154500 |
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| DDG2P v0.1 | TCN2 |
Rebecca Foulger gene: TCN2 was added gene: TCN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCN2 were set to 7849710 Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency |
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| DDG2P v0.1 | TCF4 |
Rebecca Foulger gene: TCF4 was added gene: TCF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCF4 were set to 17436254; 17436255; 18728071 Phenotypes for gene: TCF4 were set to PITT-HOPKINS SYNDROME 610954 |
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| DDG2P v0.1 | TCF20 |
Rebecca Foulger gene: TCF20 was added gene: TCF20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCF20 were set to 28135719; 25228304; 27436265 Phenotypes for gene: TCF20 were set to TCF20 syndrome |
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| DDG2P v0.1 | TCF12 |
Rebecca Foulger gene: TCF12 was added gene: TCF12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCF12 were set to 23354436 Phenotypes for gene: TCF12 were set to CORONAL CRANIOSYNOSTOSIS |
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| DDG2P v0.1 | TBXAS1 |
Rebecca Foulger gene: TBXAS1 was added gene: TBXAS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBXAS1 were set to GHOSAL HEMATODIAPHYSEAL SYNDROME 231095 Mode of pathogenicity for gene: TBXAS1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TBX5 |
Rebecca Foulger gene: TBX5 was added gene: TBX5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX5 were set to HOLT-ORAM SYNDROME 142900 |
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| DDG2P v0.1 | TBX4 |
Rebecca Foulger gene: TBX4 was added gene: TBX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX4 were set to 11303519; 15106123 Phenotypes for gene: TBX4 were set to SMALL PATELLA SYNDROME 147891 |
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| DDG2P v0.1 | TBX3 |
Rebecca Foulger gene: TBX3 was added gene: TBX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX3 were set to 19938096; 9207801; 12116211; 12668170 Phenotypes for gene: TBX3 were set to ULNAR-MAMMARY SYNDROME 181450 |
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| DDG2P v0.1 | TBX22 |
Rebecca Foulger gene: TBX22 was added gene: TBX22 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TBX22 were set to CLEFT PALATE, X-LINKED 304011 |
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| DDG2P v0.1 | TBX20 |
Rebecca Foulger gene: TBX20 was added gene: TBX20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX20 were set to 17668378; 19762328 Phenotypes for gene: TBX20 were set to ATRIAL SEPTAL DEFECT TYPE 4 611363 |
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| DDG2P v0.1 | TBX18 |
Rebecca Foulger gene: TBX18 was added gene: TBX18 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX18 were set to 26235987 Phenotypes for gene: TBX18 were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 143400 |
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| DDG2P v0.1 | TBX15 |
Rebecca Foulger gene: TBX15 was added gene: TBX15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBX15 were set to 19068278; 24039145 Phenotypes for gene: TBX15 were set to Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature; Cousin Syndrome |
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| DDG2P v0.1 | TBX1 |
Rebecca Foulger gene: TBX1 was added gene: TBX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX1 were set to 14585638 Phenotypes for gene: TBX1 were set to 22Q11.2 DELETION SYNDROME 188400 |
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| DDG2P v0.1 | TBR1 |
Rebecca Foulger gene: TBR1 was added gene: TBR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBR1 were set to 23160955 Phenotypes for gene: TBR1 were set to AUTISM 209850 |
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| DDG2P v0.1 | TBL1XR1 |
Rebecca Foulger Added phenotypes Pierpont syndrome for gene: TBL1XR1 Publications for gene TBL1XR1 were changed from 23160955; 25425123 to 28687524; 26769062; 30365874 |
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| DDG2P v0.1 | TBL1XR1 |
Rebecca Foulger gene: TBL1XR1 was added gene: TBL1XR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBL1XR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBL1XR1 were set to 23160955; 25425123 Phenotypes for gene: TBL1XR1 were set to Intellectual disability with autism spectrum disorder |
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| DDG2P v0.1 | TBCK |
Rebecca Foulger gene: TBCK was added gene: TBCK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCK were set to 27040692; 27748029; 27040691 Phenotypes for gene: TBCK were set to Severe Infantile Syndromic Encephalopathy |
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| DDG2P v0.1 | TBCE |
Rebecca Foulger Added phenotypes Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy for gene: TBCE Publications for gene TBCE were changed from 12389028 to 27666369 |
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| DDG2P v0.1 | TBCE | Rebecca Foulger Added phenotypes HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME 241410 for gene: TBCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TBCE |
Rebecca Foulger gene: TBCE was added gene: TBCE was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCE were set to 12389028 Phenotypes for gene: TBCE were set to KENNY-CAFFEY SYNDROME TYPE 1 244460 |
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| DDG2P v0.1 | TBCD |
Rebecca Foulger gene: TBCD was added gene: TBCD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCD were set to 27666374; 27666370 Phenotypes for gene: TBCD were set to Early-Onset Neurodegenerative Encephalopathy |
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| DDG2P v0.1 | TBC1D24 |
Rebecca Foulger Added phenotypes DOORS SYNDROME 220500 for gene: TBC1D24 Publications for gene TBC1D24 were changed from 20727515; 10741954; 20797691 to 24291220 |
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| DDG2P v0.1 | TBC1D24 |
Rebecca Foulger Added phenotypes MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL 605021 for gene: TBC1D24 Publications for gene TBC1D24 were changed from to 20727515; 10741954; 20797691 |
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| DDG2P v0.1 | TBC1D24 |
Rebecca Foulger gene: TBC1D24 was added gene: TBC1D24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D24 were set to NON SYNDROMAL HEARING LOSS 614617 |
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| DDG2P v0.1 | TBC1D23 |
Rebecca Foulger gene: TBC1D23 was added gene: TBC1D23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D23 were set to 28823706; 28823707 Phenotypes for gene: TBC1D23 were set to Non-degenerative Pontocerebellar Hypoplasia |
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| DDG2P v0.1 | TBC1D20 |
Rebecca Foulger gene: TBC1D20 was added gene: TBC1D20 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D20 were set to 24239381 Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4 |
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| DDG2P v0.1 | TAZ |
Rebecca Foulger gene: TAZ was added gene: TAZ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAZ were set to 8630491 Phenotypes for gene: TAZ were set to BARTH SYNDROME 302060 |
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| DDG2P v0.1 | TAT |
Rebecca Foulger gene: TAT was added gene: TAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAT were set to 1357662 Phenotypes for gene: TAT were set to TYROSINEMIA TYPE 2 276600 |
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| DDG2P v0.1 | TAPT1 |
Rebecca Foulger gene: TAPT1 was added gene: TAPT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAPT1 were set to 26365339 Phenotypes for gene: TAPT1 were set to COMPLEX LETHAL OSTEOCHONDRODYSPLASIA |
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| DDG2P v0.1 | TANGO2 |
Rebecca Foulger gene: TANGO2 was added gene: TANGO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TANGO2 were set to 26805782; 26805781 Phenotypes for gene: TANGO2 were set to Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy |
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| DDG2P v0.1 | TAF2 |
Rebecca Foulger gene: TAF2 was added gene: TAF2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF2 were set to 21937992 Phenotypes for gene: TAF2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: TAF2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TAF13 |
Rebecca Foulger gene: TAF13 was added gene: TAF13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TAF13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF13 were set to 28257693 Phenotypes for gene: TAF13 were set to Autosomal-Recessive Intellectual Disability and Microcephaly Mode of pathogenicity for gene: TAF13 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TAF1 |
Rebecca Foulger gene: TAF1 was added gene: TAF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAF1 were set to 26637982 Phenotypes for gene: TAF1 were set to Dysmorphic Features, Intellectual Disability, and Neurological Manifestations |
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| DDG2P v0.1 | TACR3 |
Rebecca Foulger gene: TACR3 was added gene: TACR3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TACR3 were set to 19079066 Phenotypes for gene: TACR3 were set to HYPOGONADOTROPIC HYPOGONADISM 146110 Mode of pathogenicity for gene: TACR3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TACO1 |
Rebecca Foulger gene: TACO1 was added gene: TACO1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TACO1 were set to LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY 256000 |
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| DDG2P v0.1 | TAC3 |
Rebecca Foulger gene: TAC3 was added gene: TAC3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAC3 were set to 19079066 Phenotypes for gene: TAC3 were set to HYPOGONADOTROPIC HYPOGONADISM 146110 Mode of pathogenicity for gene: TAC3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TAB2 |
Rebecca Foulger gene: TAB2 was added gene: TAB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TAB2 were set to 27479907; 20493459 Phenotypes for gene: TAB2 were set to CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 612863 Mode of pathogenicity for gene: TAB2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SZT2 |
Rebecca Foulger gene: SZT2 was added gene: SZT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SZT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SZT2 were set to 23932106 Phenotypes for gene: SZT2 were set to INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM |
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| DDG2P v0.1 | SYT1 |
Rebecca Foulger gene: SYT1 was added gene: SYT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SYT1 were set to 25705886 Phenotypes for gene: SYT1 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: SYT1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SYP |
Rebecca Foulger gene: SYP was added gene: SYP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SYP were set to 19377476 Phenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED 300802 |
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| DDG2P v0.1 | SYNGAP1 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 612621 for gene: SYNGAP1 Publications for gene SYNGAP1 were changed from 23708187 to 23033978; 19196676; 23161826; 21237447; 23141534 |
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| DDG2P v0.1 | SYNGAP1 |
Rebecca Foulger gene: SYNGAP1 was added gene: SYNGAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SYNGAP1 were set to 23708187 Phenotypes for gene: SYNGAP1 were set to EPILEPTIC ENCEPHALOPATHY |
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| DDG2P v0.1 | SYNE1 | Rebecca Foulger Added phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 610743 for gene: SYNE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SYNE1 |
Rebecca Foulger gene: SYNE1 was added gene: SYNE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYNE1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE 612998 |
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| DDG2P v0.1 | SYN1 |
Rebecca Foulger gene: SYN1 was added gene: SYN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS 290927 |
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| DDG2P v0.1 | SURF1 | Rebecca Foulger Added phenotypes COMPLEX IV DEFICIENCY 220110 for gene: SURF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SURF1 |
Rebecca Foulger gene: SURF1 was added gene: SURF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SURF1 were set to LEIGH SYNDROME 256000 |
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| DDG2P v0.1 | SUMO1 |
Rebecca Foulger gene: SUMO1 was added gene: SUMO1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SUMO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUMO1 were set to 16990542 Phenotypes for gene: SUMO1 were set to CLEFT LIP +/- CLEFT PALATE 608874 |
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| DDG2P v0.1 | SUMF1 |
Rebecca Foulger gene: SUMF1 was added gene: SUMF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUMF1 were set to 12757706; 12757705; 21224894 Phenotypes for gene: SUMF1 were set to SULFATIDOSIS, JUVENILE, AUSTIN TYPE 272200 |
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| DDG2P v0.1 | SUFU |
Rebecca Foulger gene: SUFU was added gene: SUFU was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUFU were set to 28965847 Phenotypes for gene: SUFU were set to Joubert Syndrome with Cranio-facial and Skeletal Defects Mode of pathogenicity for gene: SUFU was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SUCLG1 |
Rebecca Foulger gene: SUCLG1 was added gene: SUCLG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLG1 were set to FATAL INFANTILE LACTIC ACIDOSIS 308078 |
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| DDG2P v0.1 | STXBP1 |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 612164 for gene: STXBP1 Publications for gene STXBP1 were changed from to 18469812; 19557857 |
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| DDG2P v0.1 | STXBP1 |
Rebecca Foulger gene: STXBP1 was added gene: STXBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: STXBP1 were set to ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER |
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| DDG2P v0.1 | STX1B |
Rebecca Foulger gene: STX1B was added gene: STX1B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: STX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STX1B were set to 25362483 Phenotypes for gene: STX1B were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 616172 |
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| DDG2P v0.1 | STT3B |
Rebecca Foulger gene: STT3B was added gene: STT3B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: STT3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STT3B were set to 23842455 Phenotypes for gene: STT3B were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX 615597 |
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| DDG2P v0.1 | STT3A |
Rebecca Foulger gene: STT3A was added gene: STT3A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: STT3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STT3A were set to 23842455 Phenotypes for gene: STT3A were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW 615596 Mode of pathogenicity for gene: STT3A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | STS |
Rebecca Foulger gene: STS was added gene: STS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: STS were set to 3032454; 9252398; 1539590 Phenotypes for gene: STS were set to ICHTHYOSIS, X-LINKED 308100 |
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| DDG2P v0.1 | STRA6 |
Rebecca Foulger gene: STRA6 was added gene: STRA6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STRA6 were set to 17503335; 17273977; 21901792; 11857549; 19839040 Phenotypes for gene: STRA6 were set to MICROPHTHALMIA SYNDROMIC TYPE 9 601186 |
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| DDG2P v0.1 | STN1 |
Rebecca Foulger gene: STN1 was added gene: STN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STN1 were set to 27432940 Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 |
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| DDG2P v0.1 | STIM1 |
Rebecca Foulger gene: STIM1 was added gene: STIM1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STIM1 were set to 23332920 Phenotypes for gene: STIM1 were set to TUBULAR-AGGREGATE MYOPATHY 160565 Mode of pathogenicity for gene: STIM1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | STIL |
Rebecca Foulger gene: STIL was added gene: STIL was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STIL were set to 19215732 Phenotypes for gene: STIL were set to MICROCEPHALY PRIMARY TYPE 7 612703 |
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| DDG2P v0.1 | STAT5B |
Rebecca Foulger gene: STAT5B was added gene: STAT5B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAT5B were set to 13679528 Phenotypes for gene: STAT5B were set to GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY 245590 |
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| DDG2P v0.1 | STAT2 | Rebecca Foulger Added phenotypes Recessive gain of function causing increased interferon signalling for gene: STAT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | STAT2 |
Rebecca Foulger gene: STAT2 was added gene: STAT2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAT2 were set to 26408653; 26122121 Phenotypes for gene: STAT2 were set to Viral induced severe multiorgan dysfunction associated with impaired mitochondrial fission |
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| DDG2P v0.1 | STAR |
Rebecca Foulger gene: STAR was added gene: STAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAR were set to 15546900; 8634702; 16968793; 14764819; 10566637; 9141542; 7892608; 8948562; 10323391 Phenotypes for gene: STAR were set to CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA 201710 |
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| DDG2P v0.1 | STAMBP |
Rebecca Foulger gene: STAMBP was added gene: STAMBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAMBP were set to 23542699 Phenotypes for gene: STAMBP were set to MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME |
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| DDG2P v0.1 | STAG2 |
Rebecca Foulger gene: STAG2 was added gene: STAG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STAG2 were set to 30158690; 29263825; 28296084 Phenotypes for gene: STAG2 were set to STAG2-related developmental delay with microcephaly and congenital anomalies |
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| DDG2P v0.1 | STAG1 |
Rebecca Foulger gene: STAG1 was added gene: STAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STAG1 were set to 30158690; 28119487 Phenotypes for gene: STAG1 were set to STAG1 syndromic intellectual disability |
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| DDG2P v0.1 | ST3GAL5 |
Rebecca Foulger gene: ST3GAL5 was added gene: ST3GAL5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST3GAL5 were set to AMISH INFANTILE EPILEPSY SYNDROME 319543 |
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| DDG2P v0.1 | ST3GAL3 |
Rebecca Foulger gene: ST3GAL3 was added gene: ST3GAL3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST3GAL3 were set to 21907012; 17120046 Phenotypes for gene: ST3GAL3 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 611090 Mode of pathogenicity for gene: ST3GAL3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ST14 |
Rebecca Foulger gene: ST14 was added gene: ST14 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST14 were set to 18445049; 17273967 Phenotypes for gene: ST14 were set to ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS 610765 Mode of pathogenicity for gene: ST14 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SRY |
Rebecca Foulger gene: SRY was added gene: SRY was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SRY was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SRY were set to 1619028; 12107262; 9443877; 2247149; 1339396; 1639410; 2247151; 1956279; 10852465; 1570829; 8105086; 7987333; 7985018; 9150734; 9521592; 1483689 Phenotypes for gene: SRY were set to 46XY SEX REVERSAL 1 400044 |
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| DDG2P v0.1 | SRPX2 | Rebecca Foulger Added phenotypes BILATERAL PERISYLVIAN POLYMICROGYRIA 300388 for gene: SRPX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SRPX2 |
Rebecca Foulger gene: SRPX2 was added gene: SRPX2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SRPX2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SRPX2 were set to 16497722 Phenotypes for gene: SRPX2 were set to ROLANDIC EPILEPSY WITH SPEECH DYSPRAXIA AND MENTAL RETARDATION X-LINKED 300643 Mode of pathogenicity for gene: SRPX2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SRP54 |
Rebecca Foulger gene: SRP54 was added gene: SRP54 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SRP54 were set to 28972538 Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features Mode of pathogenicity for gene: SRP54 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SRGAP3 |
Rebecca Foulger gene: SRGAP3 was added gene: SRGAP3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SRGAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SRGAP3 were set to 12195014 Phenotypes for gene: SRGAP3 were set to SLIT-ROBO RHO GTPASE-ACTIVATING PROTEIN 3 606525 |
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| DDG2P v0.1 | SRD5A3 |
Rebecca Foulger gene: SRD5A3 was added gene: SRD5A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 20637498; 18271001 Phenotypes for gene: SRD5A3 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 |
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| DDG2P v0.1 | SRCAP |
Rebecca Foulger gene: SRCAP was added gene: SRCAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SRCAP were set to 20358590; 22265015 Phenotypes for gene: SRCAP were set to FLOATING-HARBOR SYNDROME 136140 Mode of pathogenicity for gene: SRCAP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SPTLC2 |
Rebecca Foulger gene: SPTLC2 was added gene: SPTLC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 613640 Mode of pathogenicity for gene: SPTLC2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SPTAN1 |
Rebecca Foulger gene: SPTAN1 was added gene: SPTAN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTAN1 were set to 22258530; 20493457 Phenotypes for gene: SPTAN1 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 613477 Mode of pathogenicity for gene: SPTAN1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SPRTN |
Rebecca Foulger gene: SPRTN was added gene: SPRTN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SPRTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPRTN were set to PROGEROID SYNDROME Mode of pathogenicity for gene: SPRTN was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SPRED1 |
Rebecca Foulger gene: SPRED1 was added gene: SPRED1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPRED1 were set to 19366998; 17704776; 21649642; 19443465 Phenotypes for gene: SPRED1 were set to LEGIUS SYNDROME 611431 |
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| DDG2P v0.1 | SPR |
Rebecca Foulger gene: SPR was added gene: SPR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPR were set to 11443547 Phenotypes for gene: SPR were set to DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY 612716 |
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| DDG2P v0.1 | SPG11 |
Rebecca Foulger gene: SPG11 was added gene: SPG11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 17717710; 19194956; 17322883; 18067136 Phenotypes for gene: SPG11 were set to SPASTIC PARAPLEGIA-11 604360 |
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| DDG2P v0.1 | SPEG |
Rebecca Foulger gene: SPEG was added gene: SPEG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEG were set to 25087613 Phenotypes for gene: SPEG were set to CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY 615959 |
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| DDG2P v0.1 | SPECC1L |
Rebecca Foulger gene: SPECC1L was added gene: SPECC1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPECC1L were set to 2541274; 21703590 Phenotypes for gene: SPECC1L were set to FACIAL CLEFTING, OBLIQUE, 1 600251 Mode of pathogenicity for gene: SPECC1L was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SPATA5 |
Rebecca Foulger gene: SPATA5 was added gene: SPATA5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5 were set to 26299366 Phenotypes for gene: SPATA5 were set to EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 616577 |
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| DDG2P v0.1 | SPARC |
Rebecca Foulger gene: SPARC was added gene: SPARC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPARC were set to 26027498 Phenotypes for gene: SPARC were set to OSTEOGENESIS IMPERFECTA, TYPE XVII 616507 Mode of pathogenicity for gene: SPARC was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SPAG1 |
Rebecca Foulger gene: SPAG1 was added gene: SPAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPAG1 were set to 24055112 Phenotypes for gene: SPAG1 were set to PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS. |
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| DDG2P v0.1 | SOX9 |
Rebecca Foulger Added phenotypes CAMPOMELIC DYSPLASIA 114290 for gene: SOX9 Publications for gene SOX9 were changed from to 11754051; 7990924; 12783851; 7485151; 11076045; 19449405; 11323423; 10951468; 8001137; 8894698 |
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| DDG2P v0.1 | SOX9 |
Rebecca Foulger gene: SOX9 was added gene: SOX9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX9 were set to PIERRE ROBIN SEQUENCE |
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| DDG2P v0.1 | SOX5 |
Rebecca Foulger gene: SOX5 was added gene: SOX5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX5 were set to 22290657 Phenotypes for gene: SOX5 were set to 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | SOX3 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY 300123 for gene: SOX3 Publications for gene SOX3 were changed from to 8826446 |
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| DDG2P v0.1 | SOX3 |
Rebecca Foulger gene: SOX3 was added gene: SOX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: SOX3 were set to SEX REVERSAL TYPE 3 300833 |
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| DDG2P v0.1 | SOX2 |
Rebecca Foulger Added phenotypes MICROPHTHALMIA SYNDROMIC TYPE 3 206900 for gene: SOX2 Publications for gene SOX2 were changed from to 12612584; 21326281; 15346919; 21919124; 16145681; 15389708; 18831064; 19254784; 15812812; 16470798; 12002146; 16543359; 16932809; 16283891 |
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| DDG2P v0.1 | SOX2 |
Rebecca Foulger gene: SOX2 was added gene: SOX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX2 were set to AEG SYNDROME |
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| DDG2P v0.1 | SOX17 |
Rebecca Foulger gene: SOX17 was added gene: SOX17 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX17 were set to 20960469 Phenotypes for gene: SOX17 were set to VESICOURETERAL REFLUX TYPE 3 613674 Mode of pathogenicity for gene: SOX17 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SOX11 |
Rebecca Foulger gene: SOX11 was added gene: SOX11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX11 were set to 24886874; 26543203 Phenotypes for gene: SOX11 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 615866 Mode of pathogenicity for gene: SOX11 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SOX10 |
Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 4C 613266 for gene: SOX10 Publications for gene SOX10 were changed from 23643381 to 18348274; 9462749; 10077527; 17999358 |
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| DDG2P v0.1 | SOX10 |
Rebecca Foulger Added phenotypes KALLMANN SYNDROME WITH DEAFNESS for gene: SOX10 Publications for gene SOX10 were changed from 8911608; 18627047; 19208381; 21965087; 18348267; 20478267; 17999358 to 23643381 |
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| DDG2P v0.1 | SOX10 |
Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 2E 611584 for gene: SOX10 Publications for gene SOX10 were changed from 19764030; 10482261; 10762540; 11026454; 12447940 to 8911608; 18627047; 19208381; 21965087; 18348267; 20478267; 17999358 |
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| DDG2P v0.1 | SOX10 | Rebecca Foulger Added phenotypes YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME 601706 for gene: SOX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SOX10 |
Rebecca Foulger gene: SOX10 was added gene: SOX10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX10 were set to 19764030; 10482261; 10762540; 11026454; 12447940 Phenotypes for gene: SOX10 were set to PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE 609136 |
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| DDG2P v0.1 | SOS1 |
Rebecca Foulger gene: SOS1 was added gene: SOS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOS1 were set to 19438935; 17143285; 18925667 Phenotypes for gene: SOS1 were set to NOONAN SYNDROME 4 610733 Mode of pathogenicity for gene: SOS1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SON |
Rebecca Foulger gene: SON was added gene: SON was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SON were set to 27545680; 27545676 Phenotypes for gene: SON were set to Intellectual Disability, Congenital Malformations, and Failure to Thrive |
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| DDG2P v0.1 | SOBP |
Rebecca Foulger gene: SOBP was added gene: SOBP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SOBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SOBP were set to 21035105 Phenotypes for gene: SOBP were set to MENTAL RETARDATION-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS 613671 |
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| DDG2P v0.1 | SNX3 |
Rebecca Foulger gene: SNX3 was added gene: SNX3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SNX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SNX3 were set to 12471201 Phenotypes for gene: SNX3 were set to MICROPHTHALMIA SYNDROMIC TYPE 8 601349 |
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| DDG2P v0.1 | SNX14 |
Rebecca Foulger gene: SNX14 was added gene: SNX14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX14 were set to ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA |
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| DDG2P v0.1 | SNRPE |
Rebecca Foulger gene: SNRPE was added gene: SNRPE was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SNRPE were set to 23246290; 9621144 Phenotypes for gene: SNRPE were set to AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX 615059 Mode of pathogenicity for gene: SNRPE was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SNRPB |
Rebecca Foulger gene: SNRPB was added gene: SNRPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNRPB were set to CEREBRO-COSTO-MANDIBULAR SYNDROME |
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| DDG2P v0.1 | SNORD118 |
Rebecca Foulger gene: SNORD118 was added gene: SNORD118 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNORD118 were set to 27793341; 27571260 Phenotypes for gene: SNORD118 were set to Leukoencephalopathy with cerebral calcification & cysts |
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| DDG2P v0.1 | SNIP1 |
Rebecca Foulger gene: SNIP1 was added gene: SNIP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SNIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNIP1 were set to 22279524 Phenotypes for gene: SNIP1 were set to SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA 614501 Mode of pathogenicity for gene: SNIP1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SNAP29 |
Rebecca Foulger gene: SNAP29 was added gene: SNAP29 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNAP29 were set to 15968592; 21073448 Phenotypes for gene: SNAP29 were set to CEDNIK SYNDROME 609528 |
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| DDG2P v0.1 | SNAP25 |
Rebecca Foulger gene: SNAP25 was added gene: SNAP25 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SNAP25 were set to 29100083 Phenotypes for gene: SNAP25 were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: SNAP25 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SMS |
Rebecca Foulger gene: SMS was added gene: SMS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SMS were set to 19206178; 18550699; 5823961 Phenotypes for gene: SMS were set to SNYDER-ROBINSON SYNDROME 309583 |
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| DDG2P v0.1 | SMPD1 |
Rebecca Foulger Added phenotypes NIEMANN-PICK DISEASE TYPE B 607616 for gene: SMPD1 Publications for gene SMPD1 were changed from 1301192; 1391960; 19405096; 8051942; 8401540; 2023926; 1718266 to 12607113; 1301192; 9266408; 1885770; 12369017 |
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| DDG2P v0.1 | SMPD1 |
Rebecca Foulger gene: SMPD1 was added gene: SMPD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD1 were set to 1301192; 1391960; 19405096; 8051942; 8401540; 2023926; 1718266 Phenotypes for gene: SMPD1 were set to NIEMANN-PICK DISEASE TYPE A 257200 |
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| DDG2P v0.1 | SMOC2 |
Rebecca Foulger gene: SMOC2 was added gene: SMOC2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMOC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMOC2 were set to 22152679 Phenotypes for gene: SMOC2 were set to DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH 125400 |
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| DDG2P v0.1 | SMOC1 |
Rebecca Foulger gene: SMOC1 was added gene: SMOC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMOC1 were set to 19208380; 21194678 Phenotypes for gene: SMOC1 were set to OPHTHALMOACROMELIC SYNDROME 206920 |
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| DDG2P v0.1 | SMO |
Rebecca Foulger gene: SMO was added gene: SMO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMO were set to Curry-Jones Syndrome Mode of pathogenicity for gene: SMO was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SMG9 |
Rebecca Foulger gene: SMG9 was added gene: SMG9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMG9 were set to 27018474 Phenotypes for gene: SMG9 were set to SMG9 Multiple Congenital Anomaly Syndrome |
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| DDG2P v0.1 | SMCHD1 |
Rebecca Foulger gene: SMCHD1 was added gene: SMCHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMCHD1 were set to 28067909; 28067911 Phenotypes for gene: SMCHD1 were set to Isolated Arhinia/Bosma Arhinia syndrome Mode of pathogenicity for gene: SMCHD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SMC3 |
Rebecca Foulger gene: SMC3 was added gene: SMC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMC3 were set to 25125236; 25655089 Phenotypes for gene: SMC3 were set to CORNELIA DE LANGE SYNDROME TYPE 3 610759 Mode of pathogenicity for gene: SMC3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SMC1A | Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: SMC1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SMC1A |
Rebecca Foulger gene: SMC1A was added gene: SMC1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SMC1A were set to 20635401; 17273969; 22106055; 16604071 Phenotypes for gene: SMC1A were set to CORNELIA DE LANGE SYNDROME TYPE 2 300590 |
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| DDG2P v0.1 | SMARCE1 |
Rebecca Foulger gene: SMARCE1 was added gene: SMARCE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCE1 were set to 22426308 Phenotypes for gene: SMARCE1 were set to COFFIN SIRIS 135900 Mode of pathogenicity for gene: SMARCE1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SMARCB1 | Rebecca Foulger Added phenotypes ?COFFIN-SIRIS SYNDROME 135900 for gene: SMARCB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SMARCB1 |
Rebecca Foulger gene: SMARCB1 was added gene: SMARCB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCB1 were set to 9671307; 10739763; 10521299 Phenotypes for gene: SMARCB1 were set to RHABDOID PREDISPOSITION SYNDROME 1 609322 |
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| DDG2P v0.1 | SMARCAL1 |
Rebecca Foulger gene: SMARCAL1 was added gene: SMARCAL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMARCAL1 were set to 11799392; 15523612 Phenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA 242900 |
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| DDG2P v0.1 | SMARCA4 |
Rebecca Foulger Added phenotypes RHABDOID TUMOR PREDISPOSITION SYNDROME 2 613325 for gene: SMARCA4 Publications for gene SMARCA4 were changed from to 20137775 |
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| DDG2P v0.1 | SMARCA4 |
Rebecca Foulger gene: SMARCA4 was added gene: SMARCA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCA4 were set to COFFIN SIRIS 135900 |
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| DDG2P v0.1 | SMARCA2 |
Rebecca Foulger Added phenotypes NICOLAIDES-BARAITSER SYNDROME 601358 for gene: SMARCA2 Publications for gene SMARCA2 were changed from 22426308 to 19606471; 22426308; 22366787 |
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| DDG2P v0.1 | SMARCA2 |
Rebecca Foulger gene: SMARCA2 was added gene: SMARCA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCA2 were set to 22426308 Phenotypes for gene: SMARCA2 were set to COFFIN SIRIS 135900 Mode of pathogenicity for gene: SMARCA2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SMAD6 |
Rebecca Foulger gene: SMAD6 was added gene: SMAD6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMAD6 were set to 27606499; 28808027 Phenotypes for gene: SMAD6 were set to Non-syndromic craniosynostosis |
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| DDG2P v0.1 | SMAD4 | Rebecca Foulger Added phenotypes JUVENILE POLYPOSIS SYNDROME 174900 for gene: SMAD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SMAD4 | Rebecca Foulger Added phenotypes JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 for gene: SMAD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SMAD4 |
Rebecca Foulger gene: SMAD4 was added gene: SMAD4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMAD4 were set to MYHRE SYNDROME |
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| DDG2P v0.1 | SMAD3 |
Rebecca Foulger gene: SMAD3 was added gene: SMAD3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMAD3 were set to SMAD3-RELATED LOEYS-DIETZ SYNDROME 319643 |
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| DDG2P v0.1 | SMAD2 |
Rebecca Foulger gene: SMAD2 was added gene: SMAD2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMAD2 were set to 23665959 Phenotypes for gene: SMAD2 were set to CONGENITAL HEART DISEASE |
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| DDG2P v0.1 | SLX4 |
Rebecca Foulger gene: SLX4 was added gene: SLX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLX4 were set to 21240277; 21240275 Phenotypes for gene: SLX4 were set to FANCONI ANEMIA COMPLEMENTATION GROUP P 613951 |
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| DDG2P v0.1 | SLC9A9 |
Rebecca Foulger gene: SLC9A9 was added gene: SLC9A9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SLC9A9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC9A9 were set to SUSCEPTIBILITY TO AUTISM TYPE 16 613410 |
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| DDG2P v0.1 | SLC9A6 |
Rebecca Foulger gene: SLC9A6 was added gene: SLC9A6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC9A6 were set to 20395263; 10528855; 18342287 Phenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE 300243 |
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| DDG2P v0.1 | SLC6A9 |
Rebecca Foulger gene: SLC6A9 was added gene: SLC6A9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A9 were set to 27773429 Phenotypes for gene: SLC6A9 were set to Glycine Encephalopathy with Arthrogryposis |
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| DDG2P v0.1 | SLC6A8 |
Rebecca Foulger gene: SLC6A8 was added gene: SLC6A8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC6A8 were set to 11326334; 16086185; 15154114; 12210795; 16738945; 11898126; 17101918 Phenotypes for gene: SLC6A8 were set to X-LINKED CREATINE DEFICIENCY SYNDROME 300352 |
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| DDG2P v0.1 | SLC6A5 |
Rebecca Foulger gene: SLC6A5 was added gene: SLC6A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A5 were set to HYPEREKPLEXIA 149400 |
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| DDG2P v0.1 | SLC6A3 |
Rebecca Foulger gene: SLC6A3 was added gene: SLC6A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A3 were set to PARKINSONISM-DYSTONIA, INFANTILE 319029 |
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| DDG2P v0.1 | SLC6A17 |
Rebecca Foulger gene: SLC6A17 was added gene: SLC6A17 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A17 were set to 25704603 Phenotypes for gene: SLC6A17 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 616269 Mode of pathogenicity for gene: SLC6A17 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC6A1 |
Rebecca Foulger gene: SLC6A1 was added gene: SLC6A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC6A1 were set to 25865495 Phenotypes for gene: SLC6A1 were set to EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES |
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| DDG2P v0.1 | SLC5A7 |
Rebecca Foulger gene: SLC5A7 was added gene: SLC5A7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A7 were set to 27569547 Phenotypes for gene: SLC5A7 were set to Congenital Myasthenic Syndrome with Episodic Apnea Mode of pathogenicity for gene: SLC5A7 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC5A5 |
Rebecca Foulger gene: SLC5A5 was added gene: SLC5A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A5 were set to 9388506; 9745458; 3998954; 9486973; 3451231; 9171822 Phenotypes for gene: SLC5A5 were set to THYROID HORMONOGENESIS DEFECT I 274400 |
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| DDG2P v0.1 | SLC52A3 |
Rebecca Foulger gene: SLC52A3 was added gene: SLC52A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A3 were set to 20206331; 20920669; 16122634; 21110228 Phenotypes for gene: SLC52A3 were set to BROWN-VIALETTO-VAN LAERE SYNDROME 211530 |
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| DDG2P v0.1 | SLC52A2 |
Rebecca Foulger gene: SLC52A2 was added gene: SLC52A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to 22740598; 24253200 Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 |
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| DDG2P v0.1 | SLC4A4 |
Rebecca Foulger gene: SLC4A4 was added gene: SLC4A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A4 were set to 10545938; 11274232 Phenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES 604278 |
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| DDG2P v0.1 | SLC4A11 |
Rebecca Foulger gene: SLC4A11 was added gene: SLC4A11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A11 were set to CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 613268 |
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| DDG2P v0.1 | SLC4A1 | Rebecca Foulger Added phenotypes RENAL TUBULAR ACIDOSIS, DISTAL, AR 611590 for gene: SLC4A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC4A1 |
Rebecca Foulger gene: SLC4A1 was added gene: SLC4A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC4A1 were set to RENAL TUBULAR ACIDOSIS, DISTAL, AD 179800 Mode of pathogenicity for gene: SLC4A1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC46A1 |
Rebecca Foulger gene: SLC46A1 was added gene: SLC46A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC46A1 were set to 17446347; 20795774; 18559978; 11807405; 21333572; 11804211 Phenotypes for gene: SLC46A1 were set to HEREDITARY FOLATE MALABSORPTION 229050 |
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| DDG2P v0.1 | SLC45A1 |
Rebecca Foulger gene: SLC45A1 was added gene: SLC45A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC45A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC45A1 were set to 28434495 Phenotypes for gene: SLC45A1 were set to Intellectual disability and epilepsy Mode of pathogenicity for gene: SLC45A1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC39A8 |
Rebecca Foulger gene: SLC39A8 was added gene: SLC39A8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A8 were set to 26637978; 26637979 Phenotypes for gene: SLC39A8 were set to Intellectual Disability with Cerebellar Atrophy Mode of pathogenicity for gene: SLC39A8 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC39A13 |
Rebecca Foulger Added phenotypes EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA 612350 for gene: SLC39A13 Publications for gene SLC39A13 were changed from to 18513683; 18985159 |
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| DDG2P v0.1 | SLC39A13 |
Rebecca Foulger gene: SLC39A13 was added gene: SLC39A13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION 601668 |
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| DDG2P v0.1 | SLC35D1 |
Rebecca Foulger gene: SLC35D1 was added gene: SLC35D1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35D1 were set to 11200994; 19508970; 17952091 Phenotypes for gene: SLC35D1 were set to SCHNECKENBECKEN DYSPLASIA 269250 |
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| DDG2P v0.1 | SLC35C1 |
Rebecca Foulger gene: SLC35C1 was added gene: SLC35C1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35C1 were set to 11326279; 11326280 Phenotypes for gene: SLC35C1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C 266265 |
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| DDG2P v0.1 | SLC35A2 |
Rebecca Foulger gene: SLC35A2 was added gene: SLC35A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC35A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC35A2 were set to CONGENITAL DISORDER OF GLYCOSYLATION |
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| DDG2P v0.1 | SLC35A1 |
Rebecca Foulger gene: SLC35A1 was added gene: SLC35A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A1 were set to 15576474 Phenotypes for gene: SLC35A1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 |
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| DDG2P v0.1 | SLC33A1 |
Rebecca Foulger gene: SLC33A1 was added gene: SLC33A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC33A1 were set to AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN |
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| DDG2P v0.1 | SLC31A1 |
Rebecca Foulger gene: SLC31A1 was added gene: SLC31A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC31A1 were set to 21937992 Phenotypes for gene: SLC31A1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: SLC31A1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC2A2 |
Rebecca Foulger gene: SLC2A2 was added gene: SLC2A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A2 were set to 9354798 Phenotypes for gene: SLC2A2 were set to FANCONI-BICKEL SYNDROME 269871 |
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| DDG2P v0.1 | SLC2A10 |
Rebecca Foulger gene: SLC2A10 was added gene: SLC2A10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A10 were set to 16550171; 17935213; 14569121 Phenotypes for gene: SLC2A10 were set to ARTERIAL TORTUOSITY SYNDROME 208050 |
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| DDG2P v0.1 | SLC2A1 |
Rebecca Foulger Added phenotypes GLUT1 DEFICIENCY SYNDROME TYPE 2 612126 for gene: SLC2A1 Publications for gene SLC2A1 were changed from 10980529; 9462754; 20221955; 18606970; 11603379; 1714544; 11136715 to 14605501; 19901175; 18451999; 18403583; 19630075; 18577546 |
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| DDG2P v0.1 | SLC2A1 |
Rebecca Foulger gene: SLC2A1 was added gene: SLC2A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC2A1 were set to 10980529; 9462754; 20221955; 18606970; 11603379; 1714544; 11136715 Phenotypes for gene: SLC2A1 were set to GLUT1 DEFICIENCY SYNDROME TYPE 1 606777 |
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| DDG2P v0.1 | SLC27A4 |
Rebecca Foulger gene: SLC27A4 was added gene: SLC27A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC27A4 were set to ICHTHYOSIS PREMATURITY SYNDROME 608649 |
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| DDG2P v0.1 | SLC26A2 |
Rebecca Foulger Added phenotypes DIASTROPHIC DYSPLASIA 222600 for gene: SLC26A2 Publications for gene SLC26A2 were changed from 12966518 to 7923357; 10482955; 10466420; 8571951; 18925670 |
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| DDG2P v0.1 | SLC26A2 |
Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 226900 for gene: SLC26A2 Publications for gene SLC26A2 were changed from 4644462; 8571951 to 12966518 |
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| DDG2P v0.1 | SLC26A2 |
Rebecca Foulger Added phenotypes ATELOSTEOGENESIS TYPE 2 256050 for gene: SLC26A2 Publications for gene SLC26A2 were changed from 8528239 to 4644462; 8571951 |
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| DDG2P v0.1 | SLC26A2 |
Rebecca Foulger gene: SLC26A2 was added gene: SLC26A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC26A2 were set to 8528239 Phenotypes for gene: SLC26A2 were set to ACHONDROGENESIS TYPE 1B 600972 |
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| DDG2P v0.1 | SLC25A4 |
Rebecca Foulger gene: SLC25A4 was added gene: SLC25A4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A4 were set to 27693233 Phenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number Mode of pathogenicity for gene: SLC25A4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC25A38 |
Rebecca Foulger gene: SLC25A38 was added gene: SLC25A38 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A38 were set to 19412178 Phenotypes for gene: SLC25A38 were set to ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE 205950 |
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| DDG2P v0.1 | SLC25A26 |
Rebecca Foulger gene: SLC25A26 was added gene: SLC25A26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A26 were set to 26522469 Phenotypes for gene: SLC25A26 were set to INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY |
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| DDG2P v0.1 | SLC25A24 |
Rebecca Foulger gene: SLC25A24 was added gene: SLC25A24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A24 were set to 29100094; 29100093 Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction Mode of pathogenicity for gene: SLC25A24 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC25A22 |
Rebecca Foulger gene: SLC25A22 was added gene: SLC25A22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A22 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 319213 Mode of pathogenicity for gene: SLC25A22 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC25A20 |
Rebecca Foulger gene: SLC25A20 was added gene: SLC25A20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A20 were set to 9399886; 12859414; 10384384; 10697964; 9686371 Phenotypes for gene: SLC25A20 were set to CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 212138 |
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| DDG2P v0.1 | SLC25A19 |
Rebecca Foulger gene: SLC25A19 was added gene: SLC25A19 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A19 were set to 12185364 Phenotypes for gene: SLC25A19 were set to AMISH LETHAL MICROCEPHALY 216535 Mode of pathogenicity for gene: SLC25A19 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC25A15 |
Rebecca Foulger gene: SLC25A15 was added gene: SLC25A15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A15 were set to 10369256; 16940241; 11355015; 19242930; 11552031 Phenotypes for gene: SLC25A15 were set to HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME 238970 |
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| DDG2P v0.1 | SLC24A4 |
Rebecca Foulger gene: SLC24A4 was added gene: SLC24A4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC24A4 were set to 23375655 Phenotypes for gene: SLC24A4 were set to AMELOGENESIS IMPERFECTA. |
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| DDG2P v0.1 | SLC24A1 |
Rebecca Foulger gene: SLC24A1 was added gene: SLC24A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SLC24A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC24A1 were set to 20850105 Phenotypes for gene: SLC24A1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 613830 |
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| DDG2P v0.1 | SLC22A5 |
Rebecca Foulger gene: SLC22A5 was added gene: SLC22A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 9916797; 10051646; 2235122; 11058897; 20027113; 9634512; 10425211; 9700603; 15714519; 10480371; 3974805 Phenotypes for gene: SLC22A5 were set to SYSTEMIC PRIMARY CARNITINE DEFICIENCY 212140 |
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| DDG2P v0.1 | SLC1A2 |
Rebecca Foulger gene: SLC1A2 was added gene: SLC1A2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC1A2 were set to 28777935; 27476654 Phenotypes for gene: SLC1A2 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: SLC1A2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC19A3 |
Rebecca Foulger gene: SLC19A3 was added gene: SLC19A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC19A3 were set to 19387023; 15871139; 20065143 Phenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 607483 |
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| DDG2P v0.1 | SLC17A5 |
Rebecca Foulger Added phenotypes INFANTILE SIALIC ACID STORAGE DISORDER 269920 for gene: SLC17A5 Publications for gene SLC17A5 were changed from 10581036; 10947946 to 10069709; 10581036 |
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| DDG2P v0.1 | SLC17A5 |
Rebecca Foulger gene: SLC17A5 was added gene: SLC17A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC17A5 were set to 10581036; 10947946 Phenotypes for gene: SLC17A5 were set to SALLA DISEASE 604369 |
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| DDG2P v0.1 | SLC16A2 |
Rebecca Foulger gene: SLC16A2 was added gene: SLC16A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC16A2 were set to 15488219; 1605231; 8484404; 14661163; 15889350 Phenotypes for gene: SLC16A2 were set to MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY 300523 |
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| DDG2P v0.1 | SLC13A5 |
Rebecca Foulger gene: SLC13A5 was added gene: SLC13A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A5 were set to 24995870; 26384929 Phenotypes for gene: SLC13A5 were set to EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE |
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| DDG2P v0.1 | SLC12A6 |
Rebecca Foulger gene: SLC12A6 was added gene: SLC12A6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC12A6 were set to 17893295; 16606917; 21628467; 12368912 Phenotypes for gene: SLC12A6 were set to AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY 218000 |
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| DDG2P v0.1 | SLC12A5 |
Rebecca Foulger gene: SLC12A5 was added gene: SLC12A5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SLC12A5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC12A5 were set to 24668262 Phenotypes for gene: SLC12A5 were set to FEBRILE SEIZURES Mode of pathogenicity for gene: SLC12A5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SKIV2L |
Rebecca Foulger gene: SKIV2L was added gene: SKIV2L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SKIV2L were set to TRICHOHEPATOENTERIC SYNDROME 2 615602 |
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| DDG2P v0.1 | SKI |
Rebecca Foulger gene: SKI was added gene: SKI was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212 Mode of pathogenicity for gene: SKI was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SIX6 |
Rebecca Foulger gene: SIX6 was added gene: SIX6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SIX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIX6 were set to 15266624 Phenotypes for gene: SIX6 were set to MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 212550 Mode of pathogenicity for gene: SIX6 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SIX5 |
Rebecca Foulger gene: SIX5 was added gene: SIX5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIX5 were set to 17357085 Phenotypes for gene: SIX5 were set to BRANCHIOOTORENAL SYNDROME TYPE 2 610896 Mode of pathogenicity for gene: SIX5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SIX3 |
Rebecca Foulger gene: SIX3 was added gene: SIX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIX3 were set to 19346217; 10369266; 17001667; 19353631; 11039582 Phenotypes for gene: SIX3 were set to HOLOPROSENCEPHALY 609637 |
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| DDG2P v0.1 | SIX1 | Rebecca Foulger Added phenotypes Non-syndromic craniosynostosis for gene: SIX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SIX1 |
Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 23 605192 for gene: SIX1 Publications for gene SIX1 were changed from 12843324; 15141091; 17637804 to 10777717 |
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| DDG2P v0.1 | SIX1 |
Rebecca Foulger gene: SIX1 was added gene: SIX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIX1 were set to 12843324; 15141091; 17637804 Phenotypes for gene: SIX1 were set to BRANCHIOOTIC SYNDROME TYPE 3 608389 |
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| DDG2P v0.1 | SIN3A |
Rebecca Foulger gene: SIN3A was added gene: SIN3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SIN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIN3A were set to 27399968 Phenotypes for gene: SIN3A were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 |
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| DDG2P v0.1 | SIL1 |
Rebecca Foulger gene: SIL1 was added gene: SIL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIL1 were set to 16282978; 18285827; 17026626; 20111056; 16282977 Phenotypes for gene: SIL1 were set to MARINESCO-SJOEGREN SYNDROME 248800 |
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| DDG2P v0.1 | SIK1 |
Rebecca Foulger gene: SIK1 was added gene: SIK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SIK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIK1 were set to 25839329 Phenotypes for gene: SIK1 were set to NEONATAL EPILEPSY SPECTRUM Mode of pathogenicity for gene: SIK1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SHROOM3 |
Rebecca Foulger gene: SHROOM3 was added gene: SHROOM3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SHROOM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHROOM3 were set to 25805808 Phenotypes for gene: SHROOM3 were set to NEURAL TUBE DEFECT |
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| DDG2P v0.1 | SHOX |
Rebecca Foulger Added phenotypes LERI-WEILL DYSCHONDROSTEOSIS 127300 for gene: SHOX Publications for gene SHOX were changed from 17935511; 9590292; 11889214; 12116254 to 9590293; 15356038; 11403039; 11030412; 21712857 |
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| DDG2P v0.1 | SHOX |
Rebecca Foulger gene: SHOX was added gene: SHOX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SHOX were set to 17935511; 9590292; 11889214; 12116254 Phenotypes for gene: SHOX were set to LANGER MESOMELIC DYSPLASIA 249700 |
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| DDG2P v0.1 | SHOC2 |
Rebecca Foulger gene: SHOC2 was added gene: SHOC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHOC2 were set to 19684605 Phenotypes for gene: SHOC2 were set to NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR 607721 Mode of pathogenicity for gene: SHOC2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SHH | Rebecca Foulger Added phenotypes HOLOPROSENCEPHALY TYPE 3 236100 for gene: SHH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SHH |
Rebecca Foulger Added phenotypes SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 147250 for gene: SHH Publications for gene SHH were changed from 12503095 to 11471164; 15103725; 12567406 |
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| DDG2P v0.1 | SHH |
Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5 611638 for gene: SHH Publications for gene SHH were changed from to 12503095 |
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| DDG2P v0.1 | SHH |
Rebecca Foulger gene: SHH was added gene: SHH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHH were set to TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME 174500 |
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| DDG2P v0.1 | SHANK3 |
Rebecca Foulger gene: SHANK3 was added gene: SHANK3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHANK3 were set to 22892527; 17173049 Phenotypes for gene: SHANK3 were set to PHELAN-MCDERMID SYNDROME 606232 |
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| DDG2P v0.1 | SHANK2 |
Rebecca Foulger gene: SHANK2 was added gene: SHANK2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SHANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHANK2 were set to 20473310 Phenotypes for gene: SHANK2 were set to SUSCEPTIBILITY TO AUTISM TYPE 17 613436 |
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| DDG2P v0.1 | SHANK1 |
Rebecca Foulger gene: SHANK1 was added gene: SHANK1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHANK1 were set to AUTISM 209850 |
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| DDG2P v0.1 | SH3PXD2B |
Rebecca Foulger gene: SH3PXD2B was added gene: SH3PXD2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SH3PXD2B were set to 20137777; 15523657; 7158646 Phenotypes for gene: SH3PXD2B were set to FRANK-TER HAAR SYNDROME 249420 |
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| DDG2P v0.1 | SH3BP2 |
Rebecca Foulger gene: SH3BP2 was added gene: SH3BP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SH3BP2 were set to 11381256 Phenotypes for gene: SH3BP2 were set to Cherubism Mode of pathogenicity for gene: SH3BP2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SGSH |
Rebecca Foulger gene: SGSH was added gene: SGSH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGSH were set to MUCOPOLYSACCHARIDOSIS TYPE 3A 252900 |
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| DDG2P v0.1 | SF3B4 |
Rebecca Foulger gene: SF3B4 was added gene: SF3B4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SF3B4 were set to 22541558 Phenotypes for gene: SF3B4 were set to ACROFACIAL DYSOSTOSIS 1, NAGER TYPE 154400 |
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| DDG2P v0.1 | SETD5 |
Rebecca Foulger gene: SETD5 was added gene: SETD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SETD5 were set to 24680889 Phenotypes for gene: SETD5 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 615761 |
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| DDG2P v0.1 | SETD2 |
Rebecca Foulger gene: SETD2 was added gene: SETD2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SETD2 were set to 24852293; 27317772 Phenotypes for gene: SETD2 were set to SETD2-associated Overgrowth Syndrome |
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| DDG2P v0.1 | SETD1A |
Rebecca Foulger gene: SETD1A was added gene: SETD1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SETD1A were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | SETBP1 | Rebecca Foulger Added phenotypes DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY for gene: SETBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SETBP1 |
Rebecca Foulger gene: SETBP1 was added gene: SETBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SETBP1 were set to 20436468 Phenotypes for gene: SETBP1 were set to SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME 269150 |
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| DDG2P v0.1 | SET |
Rebecca Foulger gene: SET was added gene: SET was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SET were set to 28135719 Phenotypes for gene: SET were set to SET syndrome |
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| DDG2P v0.1 | SELENOI |
Rebecca Foulger gene: SELENOI was added gene: SELENOI was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SELENOI was set to Publications for gene: SELENOI were set to 28052917; 29500230 Phenotypes for gene: SELENOI were set to EPT1-related complex progressive hereditary spastic paraplegia |
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| DDG2P v0.1 | SECISBP2 |
Rebecca Foulger gene: SECISBP2 was added gene: SECISBP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SECISBP2 were set to 16228000 Phenotypes for gene: SECISBP2 were set to THYROID HORMONE METABOLISM, ABNORMAL 609698 |
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| DDG2P v0.1 | SEC61A1 |
Rebecca Foulger gene: SEC61A1 was added gene: SEC61A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SEC61A1 were set to Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia Mode of pathogenicity for gene: SEC61A1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SEC24D |
Rebecca Foulger gene: SEC24D was added gene: SEC24D was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC24D were set to 25683121 Phenotypes for gene: SEC24D were set to SYNDROMIC OSTEOGENESIS IMPERFECTA |
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| DDG2P v0.1 | SEC23B |
Rebecca Foulger gene: SEC23B was added gene: SEC23B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC23B were set to 19561605; 19621418 Phenotypes for gene: SEC23B were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II 224100 |
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| DDG2P v0.1 | SEC23A |
Rebecca Foulger gene: SEC23A was added gene: SEC23A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC23A were set to 16980979 Phenotypes for gene: SEC23A were set to CRANIOLENTICULOSUTURAL DYSPLASIA 607812 Mode of pathogenicity for gene: SEC23A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SDHAF1 |
Rebecca Foulger gene: SDHAF1 was added gene: SDHAF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHAF1 were set to MITOCHONDRIAL COMPLEX II DEFICIENCY 252011 Mode of pathogenicity for gene: SDHAF1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SDHA |
Rebecca Foulger gene: SDHA was added gene: SDHA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHA were set to LEIGH SYNDROME 256000 Mode of pathogenicity for gene: SDHA was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SDCCAG8 |
Rebecca Foulger gene: SDCCAG8 was added gene: SDCCAG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDCCAG8 were set to 20835237 Phenotypes for gene: SDCCAG8 were set to SENIOR-LOKEN SYNDROME 7 613615 |
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| DDG2P v0.1 | SCYL1 |
Rebecca Foulger gene: SCYL1 was added gene: SCYL1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCYL1 were set to 26581903 Phenotypes for gene: SCYL1 were set to Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia |
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| DDG2P v0.1 | SCRIB |
Rebecca Foulger gene: SCRIB was added gene: SCRIB was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SCRIB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCRIB were set to 24140112 Phenotypes for gene: SCRIB were set to 8Q24.3 DELETION-LIKE |
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| DDG2P v0.1 | SCO2 |
Rebecca Foulger gene: SCO2 was added gene: SCO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 10545952; 10749987; 18924171; 14994243 Phenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY 604377 |
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| DDG2P v0.1 | SCO1 |
Rebecca Foulger gene: SCO1 was added gene: SCO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
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| DDG2P v0.1 | SCN8A |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 614558 for gene: SCN8A Publications for gene SCN8A were changed from 16236810 to 22365152 |
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| DDG2P v0.1 | SCN8A |
Rebecca Foulger gene: SCN8A was added gene: SCN8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN8A were set to 16236810 Phenotypes for gene: SCN8A were set to COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 614306 |
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| DDG2P v0.1 | SCN4A |
Rebecca Foulger Added phenotypes PARAMYOTONIA CONGENITA OF VON EULENBURG 168300 for gene: SCN4A Publications for gene SCN4A were changed from 1659948; 15596759; 1659668 to 8388676; 17998485; 10369308; 8580427; 1316765; 18203179; 19015492; 1338909; 1310898; 19015483 |
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| DDG2P v0.1 | SCN4A |
Rebecca Foulger Added phenotypes HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 170500 for gene: SCN4A Publications for gene SCN4A were changed from 16890191; 10851391; 10599760; 10944223; 11591859 to 1659948; 15596759; 1659668 |
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| DDG2P v0.1 | SCN4A |
Rebecca Foulger gene: SCN4A was added gene: SCN4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN4A were set to 16890191; 10851391; 10599760; 10944223; 11591859 Phenotypes for gene: SCN4A were set to HYPOKALEMIC PERIODIC PARALYSIS 613345 Mode of pathogenicity for gene: SCN4A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SCN3A |
Rebecca Foulger gene: SCN3A was added gene: SCN3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN3A were set to 18242854; 24157691 Phenotypes for gene: SCN3A were set to Focal epilepsy Mode of pathogenicity for gene: SCN3A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SCN2A |
Rebecca Foulger Added phenotypes INFANTILE EPILEPTIC ENCEPHALOPATHY for gene: SCN2A Publications for gene SCN2A were changed from to 26291284; 23935176 |
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| DDG2P v0.1 | SCN2A | Rebecca Foulger Added phenotypes BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 248968 for gene: SCN2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SCN2A |
Rebecca Foulger gene: SCN2A was added gene: SCN2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN2A were set to NONSPECIFIC SEVERE ID |
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| DDG2P v0.1 | SCN1B |
Rebecca Foulger Added phenotypes BRUGADA SYNDROME 5 612838 for gene: SCN1B Publications for gene SCN1B were changed from 9697698 to 18464934 |
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| DDG2P v0.1 | SCN1B |
Rebecca Foulger gene: SCN1B was added gene: SCN1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN1B were set to 9697698 Phenotypes for gene: SCN1B were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 604233 |
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| DDG2P v0.1 | SCN1A |
Rebecca Foulger gene: SCN1A was added gene: SCN1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN1A were set to 11359211; 21753172; 16505326; 18680191; 17000989; 12566275; 21555645 Phenotypes for gene: SCN1A were set to SCN1A-RELATED SEIZURE DISORDERS 607208 |
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| DDG2P v0.1 | SCN11A |
Rebecca Foulger gene: SCN11A was added gene: SCN11A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN11A were set to 24036948 Phenotypes for gene: SCN11A were set to CONGENITAL INABILITY TO EXPERIENCE PAIN Mode of pathogenicity for gene: SCN11A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SCARF2 |
Rebecca Foulger gene: SCARF2 was added gene: SCARF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCARF2 were set to 21108395 Phenotypes for gene: SCARF2 were set to VAN DEN ENDE-GUPTA SYNDROME 600920 |
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| DDG2P v0.1 | SCAPER |
Rebecca Foulger gene: SCAPER was added gene: SCAPER was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCAPER were set to 21937992 Phenotypes for gene: SCAPER were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | SC5D |
Rebecca Foulger gene: SC5D was added gene: SC5D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SC5D were set to LATHOSTEROLOSIS 607330 Mode of pathogenicity for gene: SC5D was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SBDS |
Rebecca Foulger gene: SBDS was added gene: SBDS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBDS were set to SHWACHMAN-DIAMOND SYNDROME 607444 |
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| DDG2P v0.1 | SATB2 | Rebecca Foulger Added phenotypes NONSPECIFIC SEVERE ID for gene: SATB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SATB2 |
Rebecca Foulger Added phenotypes SYNDROMAL PIERRE ROBIN SEQUENCE for gene: SATB2 Publications for gene SATB2 were changed from 17377962 to 28139846; 28151491 |
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| DDG2P v0.1 | SATB2 |
Rebecca Foulger gene: SATB2 was added gene: SATB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SATB2 were set to 17377962 Phenotypes for gene: SATB2 were set to CLEFT PALATE ISOLATED 119540 |
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| DDG2P v0.1 | SAMHD1 |
Rebecca Foulger gene: SAMHD1 was added gene: SAMHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAMHD1 were set to AICARDI-GOUTIERES SYNDROME 239588 |
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| DDG2P v0.1 | SAMD9L |
Rebecca Foulger gene: SAMD9L was added gene: SAMD9L was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SAMD9L were set to 27259050 Phenotypes for gene: SAMD9L were set to Ataxia-Pancytopenia Syndrome Mode of pathogenicity for gene: SAMD9L was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SALL4 | Rebecca Foulger Added phenotypes DUANE-RADIAL RAY SYNDROME 173212 for gene: SALL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SALL4 |
Rebecca Foulger gene: SALL4 was added gene: SALL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SALL4 were set to ACRO-RENAL-OCULAR SYNDROME 217001 |
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| DDG2P v0.1 | SALL1 |
Rebecca Foulger gene: SALL1 was added gene: SALL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SALL1 were set to 18000979; 11484202; 9973281; 10928856; 17431915; 14755477; 9425907; 10533063 Phenotypes for gene: SALL1 were set to TOWNES-BROCKS SYNDROME 107480 |
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| DDG2P v0.1 | SACS |
Rebecca Foulger gene: SACS was added gene: SACS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SACS were set to 10655055 Phenotypes for gene: SACS were set to SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 270550 |
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| DDG2P v0.1 | RYR3 |
Rebecca Foulger gene: RYR3 was added gene: RYR3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RYR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYR3 were set to 25262651 Phenotypes for gene: RYR3 were set to EPILEPTIC ENCEPHALOPATHY |
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| DDG2P v0.1 | RYR1 |
Rebecca Foulger gene: RYR1 was added gene: RYR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RYR1 were set to 20839240 Phenotypes for gene: RYR1 were set to MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 255320 |
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| DDG2P v0.1 | RUNX2 |
Rebecca Foulger gene: RUNX2 was added gene: RUNX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RUNX2 were set to 12081718; 9182765; 9207800; 12424590; 10521292; 15952089; 10545612 Phenotypes for gene: RUNX2 were set to CLEIDOCRANIAL DYSPLASIA 119600 |
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| DDG2P v0.1 | RUBCN |
Rebecca Foulger gene: RUBCN was added gene: RUBCN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RUBCN were set to SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY Mode of pathogenicity for gene: RUBCN was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RTTN |
Rebecca Foulger gene: RTTN was added gene: RTTN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTTN were set to 22939636; 29883675; 26608784 Phenotypes for gene: RTTN were set to BILATERAL DIFFUSE POLYMICROGYRIA 614833 Mode of pathogenicity for gene: RTTN was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RTN4IP1 |
Rebecca Foulger gene: RTN4IP1 was added gene: RTN4IP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTN4IP1 were set to 26593267 Phenotypes for gene: RTN4IP1 were set to EARLY-ONSET RECESSIVE OPTIC NEUROPATHY |
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| DDG2P v0.1 | RTEL1 | Rebecca Foulger Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 615190 for gene: RTEL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RTEL1 |
Rebecca Foulger gene: RTEL1 was added gene: RTEL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 23453664 Phenotypes for gene: RTEL1 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 615190 |
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| DDG2P v0.1 | RSPRY1 |
Rebecca Foulger gene: RSPRY1 was added gene: RSPRY1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPRY1 were set to 26365341 Phenotypes for gene: RSPRY1 were set to PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA |
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| DDG2P v0.1 | RSPO4 |
Rebecca Foulger gene: RSPO4 was added gene: RSPO4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPO4 were set to 4702713; 17041604; 17186469; 18070203; 17914448 Phenotypes for gene: RSPO4 were set to ANONYCHIA CONGENITA 206800 |
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| DDG2P v0.1 | RSPO2 |
Rebecca Foulger gene: RSPO2 was added gene: RSPO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RSPO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPO2 were set to 29769720 Phenotypes for gene: RSPO2 were set to Tetra-amelia with lung agenesis |
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| DDG2P v0.1 | RSPH3 |
Rebecca Foulger gene: RSPH3 was added gene: RSPH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPH3 were set to 26073779 Phenotypes for gene: RSPH3 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS |
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| DDG2P v0.1 | RSPH1 |
Rebecca Foulger gene: RSPH1 was added gene: RSPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPH1 were set to 23993197 Phenotypes for gene: RSPH1 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS |
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| DDG2P v0.1 | RRM2B |
Rebecca Foulger gene: RRM2B was added gene: RRM2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RRM2B were set to 17486094; 19616983; 23968935; 23107649; 28482374 Phenotypes for gene: RRM2B were set to Mitochondrial depletion syndrome |
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| DDG2P v0.1 | RRAS |
Rebecca Foulger gene: RRAS was added gene: RRAS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RRAS were set to 24705357 Phenotypes for gene: RRAS were set to ATYPICAL NOONAN SYNDROME Mode of pathogenicity for gene: RRAS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RPS6KA3 | Rebecca Foulger Added phenotypes COFFIN-LOWRY SYNDROME 303600 for gene: RPS6KA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RPS6KA3 |
Rebecca Foulger gene: RPS6KA3 was added gene: RPS6KA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: RPS6KA3 were set to 10528858; 12439904; 17717706; 9887375; 12558110; 11992250; 9837815; 10094187; 15214012; 8955270; 14986828 Phenotypes for gene: RPS6KA3 were set to COFFIN-LOWRY SYNDROME 303600 |
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| DDG2P v0.1 | RPS23 |
Rebecca Foulger gene: RPS23 was added gene: RPS23 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RPS23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPS23 were set to 28257692 Phenotypes for gene: RPS23 were set to Microcephaly, hearing loss, and dysmorphic features Mode of pathogenicity for gene: RPS23 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RPS19 |
Rebecca Foulger gene: RPS19 was added gene: RPS19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS19 were set to RPS19-RELATED DIAMOND-BLACKFAN ANEMIA 220176 |
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| DDG2P v0.1 | RPL11 |
Rebecca Foulger gene: RPL11 was added gene: RPL11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPL11 was set to Publications for gene: RPL11 were set to 19191325; 19061985; 19773262 Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia with cleft palate and abnormal thumbs |
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| DDG2P v0.1 | RPGRIP1L |
Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 7 611560 for gene: RPGRIP1L Publications for gene RPGRIP1L were changed from 17558409 to 18565097; 17558409; 17558407 |
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| DDG2P v0.1 | RPGRIP1L |
Rebecca Foulger Added phenotypes MECKEL SYNDROME TYPE 5 611561 for gene: RPGRIP1L Publications for gene RPGRIP1L were changed from to 17558409 |
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| DDG2P v0.1 | RPGRIP1L |
Rebecca Foulger gene: RPGRIP1L was added gene: RPGRIP1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1L were set to COACH SYNDROME 216360 |
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| DDG2P v0.1 | RPGRIP1 |
Rebecca Foulger Added phenotypes CONE-ROD DYSTROPHY 13 608194 for gene: RPGRIP1 Publications for gene RPGRIP1 were changed from 11283794; 11528500 to 12920076 |
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| DDG2P v0.1 | RPGRIP1 |
Rebecca Foulger gene: RPGRIP1 was added gene: RPGRIP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPGRIP1 were set to 11283794; 11528500 Phenotypes for gene: RPGRIP1 were set to LEBER CONGENITAL AMAUROSIS 6 613826 |
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| DDG2P v0.1 | RPE65 |
Rebecca Foulger gene: RPE65 was added gene: RPE65 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPE65 were set to 9326927 Phenotypes for gene: RPE65 were set to LEBER CONGENITAL AMAUROSIS 608553 |
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| DDG2P v0.1 | RORA |
Rebecca Foulger gene: RORA was added gene: RORA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RORA were set to 29656859 Phenotypes for gene: RORA were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | ROR2 | Rebecca Foulger Added phenotypes ROBINOW SYNDROME, AUTOSOMAL DOMINANT 180700 for gene: ROR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ROR2 |
Rebecca Foulger Added phenotypes BRACHYDACTYLY, TYPE B1 113000 for gene: ROR2 Publications for gene ROR2 were changed from 10932186; 19640924; 15952209; 18831060; 10932187 to 10986040; 19533773; 10700182; 19461659 |
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| DDG2P v0.1 | ROR2 |
Rebecca Foulger gene: ROR2 was added gene: ROR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ROR2 were set to 10932186; 19640924; 15952209; 18831060; 10932187 Phenotypes for gene: ROR2 were set to ROR2-RELATED DISORDERS AR 268310 |
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| DDG2P v0.1 | ROGDI |
Rebecca Foulger gene: ROGDI was added gene: ROGDI was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROGDI were set to 16411202; 8133980; 3236364; 22424600; 22482807; 7625549 Phenotypes for gene: ROGDI were set to KOHLSCHTTER-TNZ SYNDROME 226750 |
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| DDG2P v0.1 | ROBO3 |
Rebecca Foulger gene: ROBO3 was added gene: ROBO3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROBO3 were set to 16525029; 15105459 Phenotypes for gene: ROBO3 were set to FAMILIAL HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS 607313 |
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| DDG2P v0.1 | RNU4ATAC |
Rebecca Foulger gene: RNU4ATAC was added gene: RNU4ATAC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU4ATAC were set to 17666473; 21474761; 22581640; 21474760 Phenotypes for gene: RNU4ATAC were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710 Mode of pathogenicity for gene: RNU4ATAC was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RNF168 |
Rebecca Foulger gene: RNF168 was added gene: RNF168 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RNF168 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNF168 were set to RIDDLE SYNDROME 611943 |
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| DDG2P v0.1 | RNF135 |
Rebecca Foulger gene: RNF135 was added gene: RNF135 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RNF135 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNF135 were set to 17632510 Phenotypes for gene: RNF135 were set to MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME 614192 |
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| DDG2P v0.1 | RNF113A |
Rebecca Foulger gene: RNF113A was added gene: RNF113A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RNF113A were set to 25612912 Phenotypes for gene: RNF113A were set to X-LINKED TRICHOTHIODYSTROPHY |
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| DDG2P v0.1 | RNASET2 |
Rebecca Foulger gene: RNASET2 was added gene: RNASET2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASET2 were set to 19525954 Phenotypes for gene: RNASET2 were set to LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY 612951 |
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| DDG2P v0.1 | RNASEH2C |
Rebecca Foulger gene: RNASEH2C was added gene: RNASEH2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2C were set to 16845400 Phenotypes for gene: RNASEH2C were set to AICARDI-GOUTIERES SYNDROME 3 610329 |
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| DDG2P v0.1 | RNASEH2B |
Rebecca Foulger gene: RNASEH2B was added gene: RNASEH2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to 16845400 Phenotypes for gene: RNASEH2B were set to AICARDI-GOUTIERES SYNDROME 2 610181 |
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| DDG2P v0.1 | RNASEH2A |
Rebecca Foulger gene: RNASEH2A was added gene: RNASEH2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to 15870678 Phenotypes for gene: RNASEH2A were set to AICARDI-GOUTIERES SYNDROME 4 610333 |
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| DDG2P v0.1 | RMRP |
Rebecca Foulger gene: RMRP was added gene: RMRP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMRP were set to CARTILAGE-HAIR HYPOPLASIA 250250 |
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| DDG2P v0.1 | RMND1 |
Rebecca Foulger gene: RMND1 was added gene: RMND1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RMND1 were set to 23022099 Phenotypes for gene: RMND1 were set to ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT 614922 Mode of pathogenicity for gene: RMND1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RLIM |
Rebecca Foulger gene: RLIM was added gene: RLIM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RLIM were set to 25644381 Phenotypes for gene: RLIM were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: RLIM was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RIT1 |
Rebecca Foulger gene: RIT1 was added gene: RIT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RIT1 were set to 23791108 Phenotypes for gene: RIT1 were set to NOONAN SYNDROME 8 615355 Mode of pathogenicity for gene: RIT1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RIPK4 |
Rebecca Foulger gene: RIPK4 was added gene: RIPK4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIPK4 were set to 15264293; 22197488 Phenotypes for gene: RIPK4 were set to POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 263650 |
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| DDG2P v0.1 | RIN2 |
Rebecca Foulger gene: RIN2 was added gene: RIN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIN2 were set to 19631308 Phenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS |
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| DDG2P v0.1 | RGS7 |
Rebecca Foulger gene: RGS7 was added gene: RGS7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RGS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RGS7 were set to 21937992 Phenotypes for gene: RGS7 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | RFX6 |
Rebecca Foulger gene: RFX6 was added gene: RFX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFX6 were set to 18512226; 20148032; 19887127; 15592663 Phenotypes for gene: RFX6 were set to MARTINEZ-FRIAS SYNDROME 601346 |
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| DDG2P v0.1 | RFT1 |
Rebecca Foulger gene: RFT1 was added gene: RFT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFT1 were set to 18313027 Phenotypes for gene: RFT1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N 612015 |
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| DDG2P v0.1 | RETREG1 |
Rebecca Foulger gene: RETREG1 was added gene: RETREG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RETREG1 were set to 19838196 Phenotypes for gene: RETREG1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB 613115 |
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| DDG2P v0.1 | RET | Rebecca Foulger Added phenotypes MULTIPLE ENDOCRINE NEOPLASIA IIB 162300 for gene: RET | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RET |
Rebecca Foulger gene: RET was added gene: RET was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RET were set to RENAL AGENESIS 191830 |
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| DDG2P v0.1 | RERE |
Rebecca Foulger gene: RERE was added gene: RERE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RERE were set to 27087320 Phenotypes for gene: RERE were set to Phenocopy of Proximal 1p36 Deletions |
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| DDG2P v0.1 | RELN |
Rebecca Foulger gene: RELN was added gene: RELN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RELN were set to LISSENCEPHALY 2 319306 |
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| DDG2P v0.1 | RECQL4 |
Rebecca Foulger Added phenotypes BALLER-GEROLD SYNDROME 218600 for gene: RECQL4 Publications for gene RECQL4 were changed from 10319867; 9878247; 20503338; 12838562; 12734318; 10678659 to 11754069; 15964893; 9934984 |
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| DDG2P v0.1 | RECQL4 |
Rebecca Foulger Added phenotypes ROTHMUND-THOMSON SYNDROME 268400 for gene: RECQL4 Publications for gene RECQL4 were changed from 12952869 to 10319867; 9878247; 20503338; 12838562; 12734318; 10678659 |
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| DDG2P v0.1 | RECQL4 |
Rebecca Foulger gene: RECQL4 was added gene: RECQL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 12952869 Phenotypes for gene: RECQL4 were set to RAPADILINO SYNDROME 266280 |
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| DDG2P v0.1 | RBPJ |
Rebecca Foulger gene: RBPJ was added gene: RBPJ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RBPJ were set to 22883147 Phenotypes for gene: RBPJ were set to ADAMS OLIVER SYNDROME Mode of pathogenicity for gene: RBPJ was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RBM8A |
Rebecca Foulger gene: RBM8A was added gene: RBM8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBM8A were set to 22366785 Phenotypes for gene: RBM8A were set to THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME 274000 |
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| DDG2P v0.1 | RBM28 |
Rebecca Foulger gene: RBM28 was added gene: RBM28 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBM28 were set to 18439547 Phenotypes for gene: RBM28 were set to ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME 612079 Mode of pathogenicity for gene: RBM28 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RBM10 |
Rebecca Foulger gene: RBM10 was added gene: RBM10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RBM10 were set to 20451169; 5410571 Phenotypes for gene: RBM10 were set to TARP SYNDROME 311900 |
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| DDG2P v0.1 | RAX |
Rebecca Foulger gene: RAX was added gene: RAX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAX were set to 14662654; 18783408 Phenotypes for gene: RAX were set to MICROPHTHALMIA ISOLATED TYPE 3 611038 |
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| DDG2P v0.1 | RASA1 |
Rebecca Foulger Added phenotypes CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 608354 for gene: RASA1 Publications for gene RASA1 were changed from 14639529 to 18363760; 14639529 |
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| DDG2P v0.1 | RASA1 |
Rebecca Foulger gene: RASA1 was added gene: RASA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RASA1 were set to 14639529 Phenotypes for gene: RASA1 were set to PARKES WEBER SYNDROME 608355 |
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| DDG2P v0.1 | RARS2 |
Rebecca Foulger gene: RARS2 was added gene: RARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 6 318922 |
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| DDG2P v0.1 | RARB | Rebecca Foulger Added phenotypes MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA for gene: RARB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RARB |
Rebecca Foulger gene: RARB was added gene: RARB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RARB were set to 24075189 Phenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA |
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| DDG2P v0.1 | RAPSN |
Rebecca Foulger Added phenotypes FETAL AKINESIA DEFORMATION SEQUENCE 208150 for gene: RAPSN Publications for gene RAPSN were changed from 11791205 to 18179903 |
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| DDG2P v0.1 | RAPSN |
Rebecca Foulger gene: RAPSN was added gene: RAPSN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAPSN were set to 11791205 Phenotypes for gene: RAPSN were set to CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 608931 |
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| DDG2P v0.1 | RANBP2 |
Rebecca Foulger gene: RANBP2 was added gene: RANBP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RANBP2 were set to 19118815 Phenotypes for gene: RANBP2 were set to ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO 285648 Mode of pathogenicity for gene: RANBP2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RALGDS |
Rebecca Foulger gene: RALGDS was added gene: RALGDS was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RALGDS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RALGDS were set to 21937992 Phenotypes for gene: RALGDS were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: RALGDS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RAI1 |
Rebecca Foulger gene: RAI1 was added gene: RAI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAI1 were set to SMITH-MAGENIS SYNDROME 182290 |
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| DDG2P v0.1 | RAF1 |
Rebecca Foulger gene: RAF1 was added gene: RAF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAF1 were set to 17603483 Phenotypes for gene: RAF1 were set to NOONAN SYNDROME 5 611553 Mode of pathogenicity for gene: RAF1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RAD51C |
Rebecca Foulger gene: RAD51C was added gene: RAD51C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAD51C were set to 20400963 Phenotypes for gene: RAD51C were set to FANCONI ANEMIA, COMPLEMENTATION GROUP 0 613390 Mode of pathogenicity for gene: RAD51C was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RAD51 |
Rebecca Foulger gene: RAD51 was added gene: RAD51 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAD51 were set to 21242494 Phenotypes for gene: RAD51 were set to MIRROR MOVEMENTS 2 614508 |
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| DDG2P v0.1 | RAD50 |
Rebecca Foulger gene: RAD50 was added gene: RAD50 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAD50 were set to 19409520 Phenotypes for gene: RAD50 were set to NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER 613078 |
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| DDG2P v0.1 | RAD21 |
Rebecca Foulger gene: RAD21 was added gene: RAD21 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAD21 were set to 22633399 Phenotypes for gene: RAD21 were set to COHESINOPATHY 614701 |
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| DDG2P v0.1 | RAC1 |
Rebecca Foulger gene: RAC1 was added gene: RAC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAC1 were set to 28886345 Phenotypes for gene: RAC1 were set to Developmental Disorders with Diverse Phenotypes Mode of pathogenicity for gene: RAC1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RABL6 |
Rebecca Foulger gene: RABL6 was added gene: RABL6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RABL6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RABL6 were set to 21937992 Phenotypes for gene: RABL6 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: RABL6 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RAB3GAP2 |
Rebecca Foulger gene: RAB3GAP2 was added gene: RAB3GAP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP2 were set to 16532399 Phenotypes for gene: RAB3GAP2 were set to MARTSOLF SYNDROME 212720 |
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| DDG2P v0.1 | RAB3GAP1 |
Rebecca Foulger gene: RAB3GAP1 was added gene: RAB3GAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP1 were set to 15696165; 10465117; 20512159; 15216543 Phenotypes for gene: RAB3GAP1 were set to WARBURG MICRO SYNDROME TYPE 1 600118 |
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| DDG2P v0.1 | RAB39B |
Rebecca Foulger gene: RAB39B was added gene: RAB39B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RAB39B were set to 11050621; 20159109; 25434005 Phenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS 300271 |
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| DDG2P v0.1 | RAB23 |
Rebecca Foulger gene: RAB23 was added gene: RAB23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB23 were set to 17503333; 20358613 Phenotypes for gene: RAB23 were set to ACROCEPHALOPOLYSYNDACTYLY TYPE 2 201000 |
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| DDG2P v0.1 | RAB18 |
Rebecca Foulger gene: RAB18 was added gene: RAB18 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB18 were set to 21473985 Phenotypes for gene: RAB18 were set to WARBURG MICRO SYNDROME TYPE 3 614222 |
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| DDG2P v0.1 | RAB11B |
Rebecca Foulger gene: RAB11B was added gene: RAB11B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB11B were set to 29106825 Phenotypes for gene: RAB11B were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: RAB11B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RAB11A |
Rebecca Foulger gene: RAB11A was added gene: RAB11A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB11A were set to 29100083 Phenotypes for gene: RAB11A were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: RAB11A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | QRICH1 |
Rebecca Foulger gene: QRICH1 was added gene: QRICH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: QRICH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: QRICH1 were set to 28692176 Phenotypes for gene: QRICH1 were set to QRICH1 syndrome |
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| DDG2P v0.1 | QKI |
Rebecca Foulger gene: QKI was added gene: QKI was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: QKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: QKI were set to 20082458 Phenotypes for gene: QKI were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | QDPR |
Rebecca Foulger gene: QDPR was added gene: QDPR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QDPR were set to 9341885; 9744478; 2116088; 8326489; 11153907 Phenotypes for gene: QDPR were set to BH4-DEFICIENT HYPERPHENYLALANINEMIA C 261630 |
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| DDG2P v0.1 | QARS |
Rebecca Foulger gene: QARS was added gene: QARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QARS were set to 24656866 Phenotypes for gene: QARS were set to MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY 615760 Mode of pathogenicity for gene: QARS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PYROXD1 |
Rebecca Foulger gene: PYROXD1 was added gene: PYROXD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYROXD1 were set to 27745833 Phenotypes for gene: PYROXD1 were set to Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization |
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| DDG2P v0.1 | PYGL |
Rebecca Foulger gene: PYGL was added gene: PYGL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGL were set to 9529348; 9536091 Phenotypes for gene: PYGL were set to GLYCOGEN STORAGE DISEASE TYPE VI 232700 |
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| DDG2P v0.1 | PYCR2 |
Rebecca Foulger gene: PYCR2 was added gene: PYCR2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR2 were set to 25865492 Phenotypes for gene: PYCR2 were set to POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME Mode of pathogenicity for gene: PYCR2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PYCR1 |
Rebecca Foulger gene: PYCR1 was added gene: PYCR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR1 were set to 18304158; 18348262; 16045708; 19576563; 19648921; 11424136 Phenotypes for gene: PYCR1 were set to CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB 612940 |
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| DDG2P v0.1 | PXDN |
Rebecca Foulger gene: PXDN was added gene: PXDN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PXDN were set to 21907015 Phenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA |
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| DDG2P v0.1 | PURA |
Rebecca Foulger gene: PURA was added gene: PURA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PURA were set to 25342064 Phenotypes for gene: PURA were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | PUF60 | Rebecca Foulger Added phenotypes PUF60 syndrome for gene: PUF60 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PUF60 |
Rebecca Foulger gene: PUF60 was added gene: PUF60 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PUF60 were set to 24140112; 27804958 Phenotypes for gene: PUF60 were set to 8Q24.3 DELETION-LIKE |
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| DDG2P v0.1 | PTS |
Rebecca Foulger gene: PTS was added gene: PTS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTS were set to 10220141; 8178819; 9450907 Phenotypes for gene: PTS were set to 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY 261640 |
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| DDG2P v0.1 | PTPRF |
Rebecca Foulger gene: PTPRF was added gene: PTPRF was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PTPRF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPRF were set to 24781087 Phenotypes for gene: PTPRF were set to ATHELIA |
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| DDG2P v0.1 | PTPN14 |
Rebecca Foulger gene: PTPN14 was added gene: PTPN14 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPN14 were set to 20826270 Phenotypes for gene: PTPN14 were set to CHOANAL ATRESIA AND LYMPHEDEMA 613611 |
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| DDG2P v0.1 | PTPN11 |
Rebecca Foulger Added phenotypes NOONAN SYNDROME 1 163950 for gene: PTPN11 Publications for gene PTPN11 were changed from to 12529711; 19449407; 12161469; 15384080; 15240615; 11704759; 12325025; 11992261 |
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| DDG2P v0.1 | PTPN11 |
Rebecca Foulger gene: PTPN11 was added gene: PTPN11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1 151100 Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PTHLH |
Rebecca Foulger Added phenotypes BRACHYDACTYLY, TYPE E2 613382 for gene: PTHLH Publications for gene PTHLH were changed from to 20170896 |
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| DDG2P v0.1 | PTHLH |
Rebecca Foulger gene: PTHLH was added gene: PTHLH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTHLH were set to CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS |
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| DDG2P v0.1 | PTH1R |
Rebecca Foulger Added phenotypes CHONDRODYSPLASIA BLOMSTRAND TYPE 215045 for gene: PTH1R Publications for gene PTH1R were changed from 15525660 to 10523019; 17164305; 3975110; 9649554; 9745456 |
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| DDG2P v0.1 | PTH1R |
Rebecca Foulger Added phenotypes EIKEN SKELETAL DYSPLASIA 600002 for gene: PTH1R Publications for gene PTH1R were changed from 7701349; 10487664; 8703170; 15240651 to 15525660 |
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| DDG2P v0.1 | PTH1R |
Rebecca Foulger Added phenotypes JANSEN METAPHYSEAL CHONDRODYSPLASIA 156400 for gene: PTH1R Publications for gene PTH1R were changed from 19061984 to 7701349; 10487664; 8703170; 15240651 |
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| DDG2P v0.1 | PTH1R |
Rebecca Foulger gene: PTH1R was added gene: PTH1R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PTH1R were set to 19061984 Phenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION 125350 |
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| DDG2P v0.1 | PTH |
Rebecca Foulger gene: PTH was added gene: PTH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTH were set to 2212001; 1302009; 10523031; 3005800 Phenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM 146200 |
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| DDG2P v0.1 | PTF1A |
Rebecca Foulger Added phenotypes PANCREATIC AGENESIS for gene: PTF1A Publications for gene PTF1A were changed from 10507728; 21749365; 15543146 to 24212882 |
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| DDG2P v0.1 | PTF1A |
Rebecca Foulger gene: PTF1A was added gene: PTF1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTF1A were set to 10507728; 21749365; 15543146 Phenotypes for gene: PTF1A were set to DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS 609069 |
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| DDG2P v0.1 | PTEN |
Rebecca Foulger Added phenotypes MACROCEPHALY/AUTISM SYNDROME 605309 for gene: PTEN Publications for gene PTEN were changed from 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211 to 23160955; 15805158; 17286265 |
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| DDG2P v0.1 | PTEN | Rebecca Foulger Added phenotypes PROTEUS SYNDROME 176920 for gene: PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PTEN |
Rebecca Foulger Added phenotypes LHERMITTE-DUCLOS DISEASE 158350 for gene: PTEN Publications for gene PTEN were changed from 11748304 to 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211 |
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| DDG2P v0.1 | PTEN |
Rebecca Foulger Added phenotypes VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950 for gene: PTEN Publications for gene PTEN were changed from 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211 to 11748304 |
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| DDG2P v0.1 | PTEN |
Rebecca Foulger Added phenotypes COWDEN DISEASE 158350 for gene: PTEN Publications for gene PTEN were changed from 9832032; 12844284; 9241266 to 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211 |
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| DDG2P v0.1 | PTEN |
Rebecca Foulger gene: PTEN was added gene: PTEN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTEN were set to 9832032; 12844284; 9241266 Phenotypes for gene: PTEN were set to BANNAYAN-ZONANA SYNDROME 153480 |
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| DDG2P v0.1 | PTDSS1 |
Rebecca Foulger gene: PTDSS1 was added gene: PTDSS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTDSS1 were set to 24241535 Phenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 151050 Mode of pathogenicity for gene: PTDSS1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PTCHD1 |
Rebecca Foulger gene: PTCHD1 was added gene: PTCHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTCHD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PTCHD1 were set to 20844286 Phenotypes for gene: PTCHD1 were set to AUTISM/ID 300830 |
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| DDG2P v0.1 | PTCH1 |
Rebecca Foulger Added phenotypes BASAL CELL NEVUS SYNDROME 109400 for gene: PTCH1 Publications for gene PTCH1 were changed from 11941477; 17001668 to 12900905; 8681379; 22572734; 8658145 |
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| DDG2P v0.1 | PTCH1 |
Rebecca Foulger gene: PTCH1 was added gene: PTCH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTCH1 were set to 11941477; 17001668 Phenotypes for gene: PTCH1 were set to HOLOPROSENCEPHALY-7 610828 |
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| DDG2P v0.1 | PSPH |
Rebecca Foulger Added phenotypes NEU-LAXOVA 256520 for gene: PSPH Publications for gene PSPH were changed from 9222972; 14673469 to 25152457 |
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| DDG2P v0.1 | PSPH |
Rebecca Foulger gene: PSPH was added gene: PSPH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSPH were set to 9222972; 14673469 Phenotypes for gene: PSPH were set to PHOSPHOSERINE PHOSPHATASE DEFICIENCY 614023 |
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| DDG2P v0.1 | PSMD12 |
Rebecca Foulger gene: PSMD12 was added gene: PSMD12 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PSMD12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSMD12 were set to 28388435 Phenotypes for gene: PSMD12 were set to Global Developmental Delay, Multiple Malformations |
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| DDG2P v0.1 | PSMB8 |
Rebecca Foulger gene: PSMB8 was added gene: PSMB8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB8 were set to 21852578; 21881205; 21129723; 21953331 Phenotypes for gene: PSMB8 were set to NAKAJO SYNDROME 256040 Mode of pathogenicity for gene: PSMB8 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PSAT1 | Rebecca Foulger Added phenotypes NEU-LAXOVA SYNDROME 256520 for gene: PSAT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PSAT1 |
Rebecca Foulger gene: PSAT1 was added gene: PSAT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAT1 were set to 17436247 Phenotypes for gene: PSAT1 were set to PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY 610992 |
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| DDG2P v0.1 | PSAP |
Rebecca Foulger gene: PSAP was added gene: PSAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAP were set to 15773042 Phenotypes for gene: PSAP were set to ATYPICAL KRABBE DISEASE 611722 |
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| DDG2P v0.1 | PRUNE1 |
Rebecca Foulger gene: PRUNE1 was added gene: PRUNE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRUNE1 were set to 28211990; 28334956 Phenotypes for gene: PRUNE1 were set to PEHO Like condition |
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| DDG2P v0.1 | PRSS56 |
Rebecca Foulger gene: PRSS56 was added gene: PRSS56 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRSS56 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRSS56 were set to 19526372; 21397065 Phenotypes for gene: PRSS56 were set to MICROPHTHALMIA ISOLATED TYPE 6 613517 |
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| DDG2P v0.1 | PRSS12 |
Rebecca Foulger gene: PRSS12 was added gene: PRSS12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRSS12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRSS12 were set to 12459588 Phenotypes for gene: PRSS12 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 249500 |
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| DDG2P v0.1 | PRRX1 | Rebecca Foulger Added phenotypes AGNATHIA-OTOCEPHALY COMPLEX 202650 for gene: PRRX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PRRX1 |
Rebecca Foulger gene: PRRX1 was added gene: PRRX1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PRRX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PRRX1 were set to 22211708; 23444262 Phenotypes for gene: PRRX1 were set to AGNATHIA-OTOCEPHALY COMPLEX 202650 Mode of pathogenicity for gene: PRRX1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PRRT2 |
Rebecca Foulger Added phenotypes BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME 602066 for gene: PRRT2 Publications for gene PRRT2 were changed from 21937992 to 22543779; 22243967; 22744660 |
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| DDG2P v0.1 | PRRT2 |
Rebecca Foulger gene: PRRT2 was added gene: PRRT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PRRT2 were set to 21937992 Phenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | PRPS1 |
Rebecca Foulger Added phenotypes ARTS SYNDROME 301835 for gene: PRPS1 Publications for gene PRPS1 were changed from 6243137; 171280; 7593598; 2423135 to 22246954; 17701896; 8498830 |
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| DDG2P v0.1 | PRPS1 |
Rebecca Foulger Added phenotypes PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY 300661 for gene: PRPS1 Publications for gene PRPS1 were changed from 10503584; 8968763; 15240907; 20021999 to 6243137; 171280; 7593598; 2423135 |
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| DDG2P v0.1 | PRPS1 |
Rebecca Foulger Added phenotypes DEAFNESS X-LINKED TYPE 1 304500 for gene: PRPS1 Publications for gene PRPS1 were changed from 17701900 to 10503584; 8968763; 15240907; 20021999 |
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| DDG2P v0.1 | PRPS1 |
Rebecca Foulger gene: PRPS1 was added gene: PRPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PRPS1 were set to 17701900 Phenotypes for gene: PRPS1 were set to CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 311070 |
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| DDG2P v0.1 | PROP1 |
Rebecca Foulger gene: PROP1 was added gene: PROP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROP1 were set to PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 262600 |
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| DDG2P v0.1 | PRMT9 |
Rebecca Foulger gene: PRMT9 was added gene: PRMT9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PRMT9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRMT9 were set to 21937992 Phenotypes for gene: PRMT9 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: PRMT9 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PRMT7 |
Rebecca Foulger gene: PRMT7 was added gene: PRMT7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRMT7 were set to 26437029 Phenotypes for gene: PRMT7 were set to Pseudohypoparathyroidism-like disorder |
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| DDG2P v0.1 | PRKD1 |
Rebecca Foulger gene: PRKD1 was added gene: PRKD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKD1 were set to Syndromic congenital heart defects Mode of pathogenicity for gene: PRKD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PRKAR1A |
Rebecca Foulger gene: PRKAR1A was added gene: PRKAR1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKAR1A were set to 22464252; 21651393; 22464250 Phenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS 101800 Mode of pathogenicity for gene: PRKAR1A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PREPL |
Rebecca Foulger gene: PREPL was added gene: PREPL was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PREPL were set to 24610330 Phenotypes for gene: PREPL were set to HYPOTONIA-CYSTINURIA SYNDROME 606407 |
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| DDG2P v0.1 | PRDM6 |
Rebecca Foulger gene: PRDM6 was added gene: PRDM6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PRDM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRDM6 were set to 27181681 Phenotypes for gene: PRDM6 were set to Isolated Nonsyndromic Patent Ductus Arteriosus. Mode of pathogenicity for gene: PRDM6 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PRDM12 |
Rebecca Foulger gene: PRDM12 was added gene: PRDM12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM12 were set to 26005867 Phenotypes for gene: PRDM12 were set to HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII 616488 |
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| DDG2P v0.1 | PQBP1 |
Rebecca Foulger gene: PQBP1 was added gene: PQBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PQBP1 were set to 16740914; 13981686; 3177467; 16493439; 7943045; 14634649 Phenotypes for gene: PQBP1 were set to RENPENNING S(YNDROME 1 309500 |
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| DDG2P v0.1 | PPT1 |
Rebecca Foulger gene: PPT1 was added gene: PPT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPT1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 256730 |
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| DDG2P v0.1 | PPP3CA |
Rebecca Foulger gene: PPP3CA was added gene: PPP3CA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP3CA were set to 28942967 Phenotypes for gene: PPP3CA were set to Severe Neurodevelopmental Disease with Seizures Mode of pathogenicity for gene: PPP3CA was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PPP2R5D |
Rebecca Foulger gene: PPP2R5D was added gene: PPP2R5D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP2R5D were set to 25533962 Phenotypes for gene: PPP2R5D were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: PPP2R5D was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PPP2R1A |
Rebecca Foulger gene: PPP2R1A was added gene: PPP2R1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP2R1A were set to 25533962 Phenotypes for gene: PPP2R1A were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: PPP2R1A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PPP1R15B |
Rebecca Foulger gene: PPP1R15B was added gene: PPP1R15B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R15B were set to 26307080 Phenotypes for gene: PPP1R15B were set to Severe microcephaly, short stature and intellectual disability |
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| DDG2P v0.1 | PPP1CB |
Rebecca Foulger gene: PPP1CB was added gene: PPP1CB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1CB were set to 27264673 Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair Mode of pathogenicity for gene: PPP1CB was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PPM1D |
Rebecca Foulger gene: PPM1D was added gene: PPM1D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPM1D were set to 28343630; 28135719 Phenotypes for gene: PPM1D were set to PPM1D syndrome |
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| DDG2P v0.1 | PPA2 |
Rebecca Foulger gene: PPA2 was added gene: PPA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPA2 were set to 27523598; 27523597 Phenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger Mode of pathogenicity for gene: PPA2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | POU1F1 |
Rebecca Foulger gene: POU1F1 was added gene: POU1F1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POU1F1 were set to 12629113; 7670563; 9626142; 2634610; 16968807; 11297581; 1472057; 15928241; 1302000; 1509262; 8768831 Phenotypes for gene: POU1F1 were set to POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 613038 |
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| DDG2P v0.1 | POT1 |
Rebecca Foulger gene: POT1 was added gene: POT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: POT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POT1 were set to 27013236 Phenotypes for gene: POT1 were set to Coats Plus Mode of pathogenicity for gene: POT1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PORCN |
Rebecca Foulger gene: PORCN was added gene: PORCN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PORCN were set to 17546031; 17546030; 18325042 Phenotypes for gene: PORCN were set to FOCAL DERMAL HYPOPLASIA 305600 |
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| DDG2P v0.1 | POMT2 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2 613150 for gene: POMT2 Publications for gene POMT2 were changed from 17923109 to 19138766; 17878207; 16701995; 15894594 |
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| DDG2P v0.1 | POMT2 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2 613158 for gene: POMT2 Publications for gene POMT2 were changed from 19299310; 19138766; 17634419 to 17923109 |
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| DDG2P v0.1 | POMT2 |
Rebecca Foulger gene: POMT2 was added gene: POMT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT2 were set to 19299310; 19138766; 17634419 Phenotypes for gene: POMT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2 613156 |
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| DDG2P v0.1 | POMT1 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1 609308 for gene: POMT1 Publications for gene POMT1 were changed from 16717220; 11053679 to 22549409; 14678799 |
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| Short QT syndrome v0.17 | SLC4A3 | Sarah Leigh Marked gene: SLC4A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.17 | SLC4A3 | Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. One variant was identified in two unrelated families. The variant segregates with short QT in both families and an Slc4a3 knockdown in zebrafish causes increased cardiac pHi, short QTc, and reduced systolic duration, which was rescued by wildtype SLC4A3, but not by the variant (PMID: 29167417). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.17 | SLC4A3 | Sarah Leigh Gene: slc4a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | POMT1 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1 613155 for gene: POMT1 Publications for gene POMT1 were changed from 15037715; 11320179; 17878207; 12369018; 19299310 to 16717220; 11053679 |
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| DDG2P v0.1 | POMT1 |
Rebecca Foulger gene: POMT1 was added gene: POMT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT1 were set to 15037715; 11320179; 17878207; 12369018; 19299310 Phenotypes for gene: POMT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1 236670 |
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| DDG2P v0.1 | POMP |
Rebecca Foulger gene: POMP was added gene: POMP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMP were set to 20226437 Phenotypes for gene: POMP were set to KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA 601952 Mode of pathogenicity for gene: POMP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | POMGNT2 |
Rebecca Foulger gene: POMGNT2 was added gene: POMGNT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT2 were set to 22958903 Phenotypes for gene: POMGNT2 were set to WALKER WARBERG SYNDROME 614830 |
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| DDG2P v0.1 | POMGNT1 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3 613157 for gene: POMGNT1 Publications for gene POMGNT1 were changed from 17878207; 12588800; 15236414; 11709191 to 18195152; 22419172 |
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| DDG2P v0.1 | POMGNT1 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3 253280 for gene: POMGNT1 Publications for gene POMGNT1 were changed from 19299310; 19067344 to 17878207; 12588800; 15236414; 11709191 |
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| DDG2P v0.1 | POMGNT1 |
Rebecca Foulger gene: POMGNT1 was added gene: POMGNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT1 were set to 19299310; 19067344 Phenotypes for gene: POMGNT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3 613151 |
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| DDG2P v0.1 | POLR3B |
Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: POLR3B Publications for gene POLR3B were changed from to 21937992 |
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| DDG2P v0.1 | POLR3B |
Rebecca Foulger gene: POLR3B was added gene: POLR3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR3B were set to LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694 |
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| DDG2P v0.1 | POLR3A |
Rebecca Foulger gene: POLR3A was added gene: POLR3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 21855841; 17159124; 22036171; 12605447 Phenotypes for gene: POLR3A were set to LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694 |
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| DDG2P v0.1 | POLR1D |
Rebecca Foulger gene: POLR1D was added gene: POLR1D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR1D were set to 21131976 Phenotypes for gene: POLR1D were set to TREACHER COLLINS SYNDROME TYPE 2 613717 |
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| DDG2P v0.1 | POLR1C |
Rebecca Foulger gene: POLR1C was added gene: POLR1C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR1C were set to 21131976 Phenotypes for gene: POLR1C were set to TREACHER COLLINS SYNDROME TYPE 3 248390 |
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| DDG2P v0.1 | POLR1A |
Rebecca Foulger gene: POLR1A was added gene: POLR1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR1A were set to 25913037 Phenotypes for gene: POLR1A were set to ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE |
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| DDG2P v0.1 | POLG |
Rebecca Foulger gene: POLG was added gene: POLG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 607459 Mode of pathogenicity for gene: POLG was set to Other - please provide details in the comments |
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| DDG2P v0.1 | POLD1 |
Rebecca Foulger gene: POLD1 was added gene: POLD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLD1 were set to 23770608 Phenotypes for gene: POLD1 were set to SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM Mode of pathogenicity for gene: POLD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | POGZ |
Rebecca Foulger gene: POGZ was added gene: POGZ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POGZ were set to 26942287; 25533962 Phenotypes for gene: POGZ were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | POC1B |
Rebecca Foulger gene: POC1B was added gene: POC1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC1B were set to 25018096 Phenotypes for gene: POC1B were set to AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY |
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| DDG2P v0.1 | POC1A |
Rebecca Foulger Added phenotypes PRIMORDIAL DWARFISM 615272 for gene: POC1A Publications for gene POC1A were changed from 22840364; 26336158; 22440536; 22840363 to 22840364; 22440536 |
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| DDG2P v0.1 | POC1A |
Rebecca Foulger gene: POC1A was added gene: POC1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC1A were set to 22840364; 26336158; 22440536; 22840363 Phenotypes for gene: POC1A were set to SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 614813 |
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| DDG2P v0.1 | PNPT1 | Rebecca Foulger Added phenotypes HEARING LOSS for gene: PNPT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PNPT1 |
Rebecca Foulger gene: PNPT1 was added gene: PNPT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPT1 were set to 23084291 Phenotypes for gene: PNPT1 were set to RESPIRATORY CHAIN DISORDER 614932 |
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| DDG2P v0.1 | PNPLA2 |
Rebecca Foulger gene: PNPLA2 was added gene: PNPLA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to 17187067; 22832386 Phenotypes for gene: PNPLA2 were set to NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY 610717 |
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| DDG2P v0.1 | PNPLA1 |
Rebecca Foulger gene: PNPLA1 was added gene: PNPLA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA1 were set to CONGENITAL ICHTHYOSIS Mode of pathogenicity for gene: PNPLA1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PNKP |
Rebecca Foulger Added phenotypes ATAXIA-OCULOMOTOR APRAXIA 4 616267 for gene: PNKP Publications for gene PNKP were changed from 20118933 to 25728773 |
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| DDG2P v0.1 | PNKP |
Rebecca Foulger gene: PNKP was added gene: PNKP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNKP were set to 20118933 Phenotypes for gene: PNKP were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 613402 |
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| DDG2P v0.1 | PMS2 |
Rebecca Foulger gene: PMS2 was added gene: PMS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME 276300 |
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| DDG2P v0.1 | PMM2 |
Rebecca Foulger gene: PMM2 was added gene: PMM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to 17307006; 10527672; 9497260; 9887379; 10922383; 10602363; 19235233; 11916319; 9140401; 9781039; 21937992 Phenotypes for gene: PMM2 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 |
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| DDG2P v0.1 | PLXND1 |
Rebecca Foulger Added phenotypes TRUNCUS ARTERIOSIS for gene: PLXND1 Publications for gene PLXND1 were changed from to 24254849 |
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| DDG2P v0.1 | PLXND1 |
Rebecca Foulger gene: PLXND1 was added gene: PLXND1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PLXND1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PLXND1 were set to MOEBIUS SYNDROME Mode of pathogenicity for gene: PLXND1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PLPBP |
Rebecca Foulger gene: PLPBP was added gene: PLPBP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLPBP were set to 27912044 Phenotypes for gene: PLPBP were set to Vitamin-B6-Dependent Epilepsy |
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| DDG2P v0.1 | PLP1 |
Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 2 312920 for gene: PLP1 Publications for gene PLP1 were changed from 8659540; 8723686; 3827224; 9056547; 11071483; 1720927; 7574457; 1707231; 2773936; 1715570; 8696336; 8786077; 1384324; 7573159; 7683951; 1605230; 2480601 to 17438221; 9489796; 8320699; 8956049; 14452137 |
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| DDG2P v0.1 | PLP1 |
Rebecca Foulger gene: PLP1 was added gene: PLP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLP1 were set to 8659540; 8723686; 3827224; 9056547; 11071483; 1720927; 7574457; 1707231; 2773936; 1715570; 8696336; 8786077; 1384324; 7573159; 7683951; 1605230; 2480601 Phenotypes for gene: PLP1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 1 312080 |
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| DDG2P v0.1 | PLOD3 |
Rebecca Foulger gene: PLOD3 was added gene: PLOD3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968 Phenotypes for gene: PLOD3 were set to LYSYL HYDROXYLASE 3 DEFICIENCY 612394 |
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| DDG2P v0.1 | PLOD2 |
Rebecca Foulger gene: PLOD2 was added gene: PLOD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD2 were set to 15523624 Phenotypes for gene: PLOD2 were set to BRUCK SYNDROME TYPE 2 609220 |
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| DDG2P v0.1 | PLOD1 |
Rebecca Foulger gene: PLOD1 was added gene: PLOD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD1 were set to 5016372; 9450904; 1345174; 8163671 Phenotypes for gene: PLOD1 were set to EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM 225400 |
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| DDG2P v0.1 | PLK4 |
Rebecca Foulger gene: PLK4 was added gene: PLK4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLK4 were set to 25344692 Phenotypes for gene: PLK4 were set to MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY 616171 |
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| DDG2P v0.1 | PLEC | Rebecca Foulger Added phenotypes EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA 612138 for gene: PLEC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PLEC |
Rebecca Foulger gene: PLEC was added gene: PLEC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLEC were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 613723 |
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| DDG2P v0.1 | PLCG2 | Rebecca Foulger Added phenotypes FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 614468 for gene: PLCG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PLCG2 |
Rebecca Foulger gene: PLCG2 was added gene: PLCG2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLCG2 were set to 23000145 Phenotypes for gene: PLCG2 were set to AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED 614878 |
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| DDG2P v0.1 | PLCE1 |
Rebecca Foulger gene: PLCE1 was added gene: PLCE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCE1 were set to 17086182; 20591883 Phenotypes for gene: PLCE1 were set to NEPHROTIC SYNDROME, TYPE 3 610725 |
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| DDG2P v0.1 | PLCB4 |
Rebecca Foulger gene: PLCB4 was added gene: PLCB4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PLCB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PLCB4 were set to AURICULOCONDYLAR SYNDROME 602483 Mode of pathogenicity for gene: PLCB4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PLCB1 |
Rebecca Foulger gene: PLCB1 was added gene: PLCB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PLCB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCB1 were set to 20833646 Phenotypes for gene: PLCB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 613722 |
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| DDG2P v0.1 | PLAA |
Rebecca Foulger gene: PLAA was added gene: PLAA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLAA were set to 28413018 Phenotypes for gene: PLAA were set to Lethal Infantile Epileptic Encephalopathy |
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| DDG2P v0.1 | PLA2G6 | Rebecca Foulger Added phenotypes INFANTILE NEUROAXONAL DYSTROPHY 1 256600 for gene: PLA2G6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PLA2G6 |
Rebecca Foulger gene: PLA2G6 was added gene: PLA2G6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B 610217 |
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| DDG2P v0.1 | PKHD1 |
Rebecca Foulger gene: PKHD1 was added gene: PKHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKHD1 were set to 11919560; 19021639; 12506140 Phenotypes for gene: PKHD1 were set to POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE 263200 |
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| DDG2P v0.1 | PKD1L1 |
Rebecca Foulger gene: PKD1L1 was added gene: PKD1L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKD1L1 were set to 27616478 Phenotypes for gene: PKD1L1 were set to Laterality defects |
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| DDG2P v0.1 | PITX3 | Rebecca Foulger Added phenotypes CATARACT AUTOSOMAL DOMINANT 604219 for gene: PITX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PITX3 | Rebecca Foulger Added phenotypes ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250 for gene: PITX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PITX3 |
Rebecca Foulger gene: PITX3 was added gene: PITX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PITX3 were set to 15286169 Phenotypes for gene: PITX3 were set to CATARACT POSTERIOR POLAR TYPE 4 610623 |
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| DDG2P v0.1 | PITX2 | Rebecca Foulger Added phenotypes PETERS ANOMALY 604229 for gene: PITX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PITX2 |
Rebecca Foulger Added phenotypes AXENFELD-RIEGER SYNDROME TYPE 1 180500 for gene: PITX2 Publications for gene PITX2 were changed from 15591271 to 8944018; 11301317; 11487566 |
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| DDG2P v0.1 | PITX2 |
Rebecca Foulger Added phenotypes RING DERMOID OF CORNEA 180550 for gene: PITX2 Publications for gene PITX2 were changed from 8942889; 7581385 to 15591271 |
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| DDG2P v0.1 | PITX2 |
Rebecca Foulger gene: PITX2 was added gene: PITX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PITX2 were set to 8942889; 7581385 Phenotypes for gene: PITX2 were set to IRIDOGONIODYSGENESIS TYPE 2 137600 |
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| DDG2P v0.1 | PITX1 |
Rebecca Foulger Added phenotypes CONGENITAL CLUBFOOT 119800 for gene: PITX1 Publications for gene PITX1 were changed from to 18950742; 22258522 |
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| DDG2P v0.1 | PITX1 |
Rebecca Foulger gene: PITX1 was added gene: PITX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX1 were set to HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS |
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| DDG2P v0.1 | PIP5K1C |
Rebecca Foulger gene: PIP5K1C was added gene: PIP5K1C was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIP5K1C were set to LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3 611369 Mode of pathogenicity for gene: PIP5K1C was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIK3R2 |
Rebecca Foulger gene: PIK3R2 was added gene: PIK3R2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIK3R2 were set to 26860062; 22729224 Phenotypes for gene: PIK3R2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 603387 Mode of pathogenicity for gene: PIK3R2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIK3R1 |
Rebecca Foulger Added phenotypes AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 615214 for gene: PIK3R1 Publications for gene PIK3R1 were changed from 23810378 to 22351933 |
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| DDG2P v0.1 | PIK3R1 |
Rebecca Foulger gene: PIK3R1 was added gene: PIK3R1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIK3R1 were set to 23810378 Phenotypes for gene: PIK3R1 were set to SHORT SYNDROME 269880 |
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| DDG2P v0.1 | PIK3CA |
Rebecca Foulger Added phenotypes MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501 for gene: PIK3CA Publications for gene PIK3CA were changed from 22658544 to 22729224 |
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| DDG2P v0.1 | PIK3CA | Rebecca Foulger Added phenotypes HEMIMEGALENCEPHALY PIK3CA for gene: PIK3CA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PIK3CA |
Rebecca Foulger gene: PIK3CA was added gene: PIK3CA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIK3CA were set to 22658544 Phenotypes for gene: PIK3CA were set to CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918 Mode of pathogenicity for gene: PIK3CA was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIH1D3 |
Rebecca Foulger gene: PIH1D3 was added gene: PIH1D3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PIH1D3 were set to 28041644 Phenotypes for gene: PIH1D3 were set to X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects |
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| DDG2P v0.1 | PIGY |
Rebecca Foulger gene: PIGY was added gene: PIGY was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIGY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGY were set to 26293662 Phenotypes for gene: PIGY were set to Glycosylphosphatidylinositol deficiency Mode of pathogenicity for gene: PIGY was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIGW |
Rebecca Foulger gene: PIGW was added gene: PIGW was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGW were set to 24367057 Phenotypes for gene: PIGW were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 616025 Mode of pathogenicity for gene: PIGW was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIGV |
Rebecca Foulger gene: PIGV was added gene: PIGV was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGV were set to 17351347; 20802478 Phenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION 239300 Mode of pathogenicity for gene: PIGV was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIGT |
Rebecca Foulger gene: PIGT was added gene: PIGT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGT were set to 23636107; 24906948 Phenotypes for gene: PIGT were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 615398 Mode of pathogenicity for gene: PIGT was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIGQ |
Rebecca Foulger gene: PIGQ was added gene: PIGQ was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGQ were set to 24463883 Phenotypes for gene: PIGQ were set to SEVERE EARLY-ONSET EPILEPSY |
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| DDG2P v0.1 | PIGO |
Rebecca Foulger gene: PIGO was added gene: PIGO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGO were set to 22683086 Phenotypes for gene: PIGO were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 614749 |
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| DDG2P v0.1 | PIGN |
Rebecca Foulger gene: PIGN was added gene: PIGN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGN were set to 21493957 Phenotypes for gene: PIGN were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 614080 Mode of pathogenicity for gene: PIGN was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIGM |
Rebecca Foulger gene: PIGM was added gene: PIGM was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGM were set to 16767100 Phenotypes for gene: PIGM were set to Glycosylphosphatidylinositol deficiency Mode of pathogenicity for gene: PIGM was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIGL |
Rebecca Foulger gene: PIGL was added gene: PIGL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGL were set to 22444671 Phenotypes for gene: PIGL were set to ZUNICH NEUROECTODERMAL SYNDROME 280000 |
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| DDG2P v0.1 | PIGG |
Rebecca Foulger gene: PIGG was added gene: PIGG was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGG were set to 26996948 Phenotypes for gene: PIGG were set to Intellectual Disability with Seizures and Hypotonia |
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| DDG2P v0.1 | PIGA |
Rebecca Foulger gene: PIGA was added gene: PIGA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PIGA were set to 22305531 Phenotypes for gene: PIGA were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 300868 |
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| DDG2P v0.1 | PIEZO2 |
Rebecca Foulger Added phenotypes Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception for gene: PIEZO2 Publications for gene PIEZO2 were changed from 24726473 to 27653382; 27974811; 27912047 |
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| DDG2P v0.1 | PIEZO2 |
Rebecca Foulger gene: PIEZO2 was added gene: PIEZO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIEZO2 were set to 24726473 Phenotypes for gene: PIEZO2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 3 114300 |
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| DDG2P v0.1 | PIEZO1 |
Rebecca Foulger gene: PIEZO1 was added gene: PIEZO1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIEZO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIEZO1 were set to 26387913 Phenotypes for gene: PIEZO1 were set to Congenital lymphatic dysplasia with hydrops and/or lymphoedema |
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| DDG2P v0.1 | PHOX2B |
Rebecca Foulger Added phenotypes NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE 613013 for gene: PHOX2B Publications for gene PHOX2B were changed from 12640453 to 15024693; 12438263; 16691592 |
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| DDG2P v0.1 | PHOX2B |
Rebecca Foulger gene: PHOX2B was added gene: PHOX2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PHOX2B were set to 12640453 Phenotypes for gene: PHOX2B were set to CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE 209880 Mode of pathogenicity for gene: PHOX2B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PHIP |
Rebecca Foulger gene: PHIP was added gene: PHIP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PHIP were set to 29209020; 23033978 Phenotypes for gene: PHIP were set to Developmental delay, ID, obesity and dysmorphic features |
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| DDG2P v0.1 | PHGDH |
Rebecca Foulger Added phenotypes PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 601815 for gene: PHGDH Publications for gene PHGDH were changed from 24836451 to 19235232; 11055895; 11034457 |
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| DDG2P v0.1 | PHGDH |
Rebecca Foulger gene: PHGDH was added gene: PHGDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHGDH were set to 24836451 Phenotypes for gene: PHGDH were set to NEU-LAXOVA SYNDROME 256520 |
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| DDG2P v0.1 | PHF8 |
Rebecca Foulger gene: PHF8 was added gene: PHF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHF8 were set to 10398231; 17594395; 16199551; 17661819 Phenotypes for gene: PHF8 were set to MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE 300263 |
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| Intellectual disability v2.537 | ATP6V1A | Louise Daugherty Phenotypes for gene: ATP6V1A were changed from # 618012 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3 to Epileptic encephalopathy, infantile or early childhood, 3 618012; Cutis laxa, autosomal recessive, type IID 617403 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PHF6 |
Rebecca Foulger gene: PHF6 was added gene: PHF6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHF6 were set to 15994862; 12415272; 15466013 Phenotypes for gene: PHF6 were set to BOERJESON-FORSSMAN-LEHMANN SYNDROME 301900 |
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| DDG2P v0.1 | PHF21A |
Rebecca Foulger gene: PHF21A was added gene: PHF21A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PHF21A were set to POTOCKI-SHAFFER SYNDROME 601224 |
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| DDG2P v0.1 | PHC1 |
Rebecca Foulger gene: PHC1 was added gene: PHC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PHC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHC1 were set to 23418308 Phenotypes for gene: PHC1 were set to PRIMARY MICROCEPHALY 615414 Mode of pathogenicity for gene: PHC1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PGM3 |
Rebecca Foulger gene: PGM3 was added gene: PGM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM3 were set to 24931394 Phenotypes for gene: PGM3 were set to IMMUNODEFICIENCY 23 615816 |
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| DDG2P v0.1 | PGM1 |
Rebecca Foulger gene: PGM1 was added gene: PGM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM1 were set to 19625727 Phenotypes for gene: PGM1 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT 614921 |
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| DDG2P v0.1 | PGK1 |
Rebecca Foulger gene: PGK1 was added gene: PGK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PGK1 were set to 9512313; 6933565; 6941312; 8673469; 16740138; 19157875; 1586722; 16567715; 9744480; 1547346 Phenotypes for gene: PGK1 were set to PHOSPHOGLYCERATE KINASE 1 DEFICIENCY 300653 |
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| DDG2P v0.1 | PGAP3 |
Rebecca Foulger gene: PGAP3 was added gene: PGAP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP3 were set to 24439110 Phenotypes for gene: PGAP3 were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 615716 |
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| DDG2P v0.1 | PGAP2 |
Rebecca Foulger gene: PGAP2 was added gene: PGAP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAP2 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: PGAP2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PGAP1 |
Rebecca Foulger gene: PGAP1 was added gene: PGAP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP1 were set to 24784135; 26050939; 25804403 Phenotypes for gene: PGAP1 were set to Intellectual disability, encephalopathy, impaired GPI-anchor maturation |
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| DDG2P v0.1 | PEX7 |
Rebecca Foulger Added phenotypes RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 215100 for gene: PEX7 Publications for gene PEX7 were changed from to 9090381; 10083738; 12325024 |
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| DDG2P v0.1 | PEX7 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 601757 for gene: PEX7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX7 |
Rebecca Foulger gene: PEX7 was added gene: PEX7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to REFSUM DISEASE 266500 |
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| DDG2P v0.1 | PEX6 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 601498 for gene: PEX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX6 |
Rebecca Foulger gene: PEX6 was added gene: PEX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX6 were set to ZELLWEGER SYNDROME 214100 |
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| DDG2P v0.1 | PEX5 | Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME 214100 for gene: PEX5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX5 | Rebecca Foulger Added phenotypes INFANTILE REFSUM DISEASE 266510 for gene: PEX5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX5 |
Rebecca Foulger gene: PEX5 was added gene: PEX5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX5 were set to 7719337 Phenotypes for gene: PEX5 were set to ADRENOLEUKODYSTROPHY NEONATAL 202370 |
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| DDG2P v0.1 | PEX3 | Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME 214100 for gene: PEX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX3 |
Rebecca Foulger gene: PEX3 was added gene: PEX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX3 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12 603164 |
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| DDG2P v0.1 | PEX26 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8 608666 for gene: PEX26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX26 | Rebecca Foulger Added phenotypes ADRENOLEUKODYSTROPHY NEONATAL 202370 for gene: PEX26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX26 | Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME 214100 for gene: PEX26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX26 |
Rebecca Foulger gene: PEX26 was added gene: PEX26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX26 were set to INFANTILE REFSUM DISEASE 266510 |
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| DDG2P v0.1 | PEX2 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5 170993 for gene: PEX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX2 | Rebecca Foulger Added phenotypes INFANTILE REFSUM DISEASE 266510 for gene: PEX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX2 |
Rebecca Foulger gene: PEX2 was added gene: PEX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX2 were set to ZELLWEGER SYNDROME 214100 |
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| DDG2P v0.1 | PEX19 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 600279 for gene: PEX19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX19 |
Rebecca Foulger gene: PEX19 was added gene: PEX19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX19 were set to ZELLWEGER SYNDROME 214100 |
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| DDG2P v0.1 | PEX16 | Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME 214100 for gene: PEX16 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX16 |
Rebecca Foulger gene: PEX16 was added gene: PEX16 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 603360 |
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| DDG2P v0.1 | PEX14 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K 601791 for gene: PEX14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX14 |
Rebecca Foulger gene: PEX14 was added gene: PEX14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX14 were set to ZELLWEGER SYNDROME 214100 |
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| DDG2P v0.1 | PEX13 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13 601789 for gene: PEX13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX13 |
Rebecca Foulger gene: PEX13 was added gene: PEX13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX13 were set to ADRENOLEUKODYSTROPHY NEONATAL 202370 |
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| DDG2P v0.1 | PEX12 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3 601758 for gene: PEX12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX12 |
Rebecca Foulger gene: PEX12 was added gene: PEX12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX12 were set to ZELLWEGER SYNDROME 214100 |
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| DDG2P v0.1 | PEX11B |
Rebecca Foulger gene: PEX11B was added gene: PEX11B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX11B were set to 28129423; 22581968 Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B |
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| DDG2P v0.1 | PEX10 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 602859 for gene: PEX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX10 | Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME 214100 for gene: PEX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX10 |
Rebecca Foulger gene: PEX10 was added gene: PEX10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX10 were set to ADRENOLEUKODYSTROPHY NEONATAL 202370 |
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| DDG2P v0.1 | PEX1 | Rebecca Foulger Added phenotypes INFANTILE REFSUM DISEASE 266510 for gene: PEX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX1 | Rebecca Foulger Added phenotypes ADRENOLEUKODYSTROPHY NEONATAL 202370 for gene: PEX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX1 |
Rebecca Foulger gene: PEX1 was added gene: PEX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX1 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 602136 |
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| DDG2P v0.1 | PET100 |
Rebecca Foulger gene: PET100 was added gene: PET100 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PET100 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
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| DDG2P v0.1 | PEPD |
Rebecca Foulger gene: PEPD was added gene: PEPD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEPD were set to 17142620; 16470701; 19308961; 6637477; 1972707; 8900231; 2365824; 15309682 Phenotypes for gene: PEPD were set to PROLIDASE DEFICIENCY 170100 |
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| DDG2P v0.1 | PECR |
Rebecca Foulger gene: PECR was added gene: PECR was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PECR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PECR were set to 21937992 Phenotypes for gene: PECR were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: PECR was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PDSS2 |
Rebecca Foulger gene: PDSS2 was added gene: PDSS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS2 were set to 17186472 Phenotypes for gene: PDSS2 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 3 614652 |
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| DDG2P v0.1 | PDSS1 |
Rebecca Foulger gene: PDSS1 was added gene: PDSS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS1 were set to 17332895 Phenotypes for gene: PDSS1 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 2 614651 Mode of pathogenicity for gene: PDSS1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PDHX |
Rebecca Foulger gene: PDHX was added gene: PDHX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHX were set to 9399911; 9467010; 16566017; 8229524; 8584393; 11935326; 17152059; 21937992; 12557299 Phenotypes for gene: PDHX were set to LACTICACIDEMIA DUE TO PDX1 DEFICIENCY 245349 |
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| DDG2P v0.1 | PDHA1 | Rebecca Foulger Added phenotypes INTELLECTUAL DISABILTIY 312170 for gene: PDHA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PDHA1 | Rebecca Foulger Added phenotypes PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES 312170 for gene: PDHA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PDHA1 |
Rebecca Foulger gene: PDHA1 was added gene: PDHA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PDHA1 were set to 1909778; 8199595; 8032855; 3137520; 1907799; 2378353; 10486093; 12379317; 7573035; 1909401; 1293379; 2537010; 9686362; 8771169 Phenotypes for gene: PDHA1 were set to X-LINKED LEIGH SYNDROME 312170 |
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| DDG2P v0.1 | PDGFRB |
Rebecca Foulger Added phenotypes PREMATURE AGING SYNDROME, PENTTINEN TYPE 601812 for gene: PDGFRB Publications for gene PDGFRB were changed from 23731542 to 26279204 |
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| DDG2P v0.1 | PDGFRB |
Rebecca Foulger gene: PDGFRB was added gene: PDGFRB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDGFRB were set to 23731542 Phenotypes for gene: PDGFRB were set to FAMILIAL INFANTILE MYOFIBROMATOSIS 228550 Mode of pathogenicity for gene: PDGFRB was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PDE6H |
Rebecca Foulger Added phenotypes RETINAL CONE DYSTROPHY 3 PDE6H 610024 for gene: PDE6H Publications for gene PDE6H were changed from to 15629837; 22901948 |
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| DDG2P v0.1 | PDE6H |
Rebecca Foulger gene: PDE6H was added gene: PDE6H was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDE6H were set to ACHROMATOPSIA |
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| DDG2P v0.1 | PDE6G |
Rebecca Foulger gene: PDE6G was added gene: PDE6G was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE6G were set to 20655036 Phenotypes for gene: PDE6G were set to RETINITIS PIGMENTOSA 57 613582 |
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| DDG2P v0.1 | PDE4D |
Rebecca Foulger gene: PDE4D was added gene: PDE4D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDE4D were set to 22464252; 22464250; 23033274 Phenotypes for gene: PDE4D were set to ACRODYSOSTOSIS 101800 Mode of pathogenicity for gene: PDE4D was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PDE10A |
Rebecca Foulger gene: PDE10A was added gene: PDE10A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PDE10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDE10A were set to 27058447 Phenotypes for gene: PDE10A were set to Childhood-Onset Chorea with Bilateral Striatal Lesions Mode of pathogenicity for gene: PDE10A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PDCD10 |
Rebecca Foulger gene: PDCD10 was added gene: PDCD10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDCD10 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3 603285 |
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| DDG2P v0.1 | PCYT1A |
Rebecca Foulger gene: PCYT1A was added gene: PCYT1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT1A were set to 24387990 Phenotypes for gene: PCYT1A were set to SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY 608940 |
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| DDG2P v0.1 | PCNT |
Rebecca Foulger gene: PCNT was added gene: PCNT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCNT were set to 18174396; 15372530; 19839044 Phenotypes for gene: PCNT were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II 210720 |
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| DDG2P v0.1 | PCGF2 |
Rebecca Foulger gene: PCGF2 was added gene: PCGF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PCGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PCGF2 were set to INTELLECTUAL DUSBILITY Mode of pathogenicity for gene: PCGF2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PCDH19 |
Rebecca Foulger gene: PCDH19 was added gene: PCDH19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCDH19 was set to x-linked over-dominance Publications for gene: PCDH19 were set to 19214208; 5116697; 18469813; 19752159 Phenotypes for gene: PCDH19 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 300088 |
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| DDG2P v0.1 | PCCB |
Rebecca Foulger gene: PCCB was added gene: PCCB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCB were set to PROPIONIC ACIDEMIA 606054 |
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| DDG2P v0.1 | PCCA |
Rebecca Foulger gene: PCCA was added gene: PCCA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCA were set to 10820128; 8295402; 8225321; 10101253; 9683601; 9887338; 12189489; 17966092; 9385377; 8411997 Phenotypes for gene: PCCA were set to PROPIONIC ACIDEMIA 606054 |
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| DDG2P v0.1 | PCBD1 |
Rebecca Foulger gene: PCBD1 was added gene: PCBD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCBD1 were set to 8352282; 9585615 Phenotypes for gene: PCBD1 were set to HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 264070 |
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| DDG2P v0.1 | PC |
Rebecca Foulger gene: PC was added gene: PC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PC were set to 12112657; 9585612; 9585002; 19306334 Phenotypes for gene: PC were set to PYRUVATE CARBOXYLASE DEFICIENCY 266150 |
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| DDG2P v0.1 | PAX9 |
Rebecca Foulger gene: PAX9 was added gene: PAX9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX9 were set to TOOTH AGENESIS, SELECTIVE, 3 318869 |
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| DDG2P v0.1 | PAX8 |
Rebecca Foulger gene: PAX8 was added gene: PAX8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAX8 were set to 15356023; 15718293; 11502839; 9590296; 11232006 Phenotypes for gene: PAX8 were set to CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 218700 |
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| DDG2P v0.1 | PAX6 |
Rebecca Foulger Added phenotypes ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY 206700 for gene: PAX6 Publications for gene PAX6 were changed from 12721955 to 17595013; 17148041 |
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| DDG2P v0.1 | PAX6 | Rebecca Foulger Added phenotypes ANIRIDIA 106210 for gene: PAX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PAX6 |
Rebecca Foulger Added phenotypes BILATERAL OPTIC NERVE HYPOPLASIA 165550 for gene: PAX6 Publications for gene PAX6 were changed from 15629294; 9931324 to 12721955 |
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| DDG2P v0.1 | PAX6 |
Rebecca Foulger Added phenotypes FOVEAL HYPOPLASIA 136520 for gene: PAX6 Publications for gene PAX6 were changed from 12721955 to 15629294; 9931324 |
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| DDG2P v0.1 | PAX6 | Rebecca Foulger Added phenotypes PETERS ANOMALY 604229 for gene: PAX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PAX6 |
Rebecca Foulger Added phenotypes COLOBOMA OF OPTIC NERVE 120430 for gene: PAX6 Publications for gene PAX6 were changed from 7668281 to 12721955 |
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| DDG2P v0.1 | PAX6 |
Rebecca Foulger gene: PAX6 was added gene: PAX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAX6 were set to 7668281 Phenotypes for gene: PAX6 were set to KERATITIS HEREDITARY 148190 |
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| DDG2P v0.1 | PAX3 |
Rebecca Foulger Added phenotypes CRANIOFACIAL-DEAFNESS-HAND SYNDROME 122880 for gene: PAX3 Publications for gene PAX3 were changed from 1347148; 1308353; 7726174; 8447316; 1303193; 1887852; 8490648; 20478267 to 6859126 |
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| DDG2P v0.1 | PAX3 |
Rebecca Foulger gene: PAX3 was added gene: PAX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAX3 were set to 1347148; 1308353; 7726174; 8447316; 1303193; 1887852; 8490648; 20478267 Phenotypes for gene: PAX3 were set to WAARDENBURG SYNDROME, TYPE 1 193500 |
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| DDG2P v0.1 | PAX2 |
Rebecca Foulger gene: PAX2 was added gene: PAX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAX2 were set to 11093271; 3377002; 2644560; 11461952; 9106533; 7795640; 9760197 Phenotypes for gene: PAX2 were set to RENAL-COLOBOMA SYNDROME 120330 |
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| DDG2P v0.1 | PARP1 |
Rebecca Foulger gene: PARP1 was added gene: PARP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PARP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARP1 were set to 21937992 Phenotypes for gene: PARP1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: PARP1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PARN |
Rebecca Foulger gene: PARN was added gene: PARN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PARN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARN were set to 25893599 Phenotypes for gene: PARN were set to Dyskeratosis congenita, autosomal recessive 6 |
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| DDG2P v0.1 | PAPSS2 |
Rebecca Foulger gene: PAPSS2 was added gene: PAPSS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAPSS2 were set to 22791835; 9714015; 19474428 Phenotypes for gene: PAPSS2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE 612847 |
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| DDG2P v0.1 | PALB2 |
Rebecca Foulger gene: PALB2 was added gene: PALB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PALB2 were set to 17200671; 17200672 Phenotypes for gene: PALB2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP N 610832 |
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| DDG2P v0.1 | PAK3 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 30 300558 for gene: PAK3 Publications for gene PAK3 were changed from 24556213 to 17853471; 9332663; 8826460; 18523455; 12884430 |
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| DDG2P v0.1 | PAK3 |
Rebecca Foulger gene: PAK3 was added gene: PAK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PAK3 were set to 24556213 Phenotypes for gene: PAK3 were set to AGENESIS OF THE CORPUS CALLOSUM |
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| DDG2P v0.1 | PAH | Rebecca Foulger Added phenotypes PHENYLKETONURIA 261600 for gene: PAH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PAH |
Rebecca Foulger gene: PAH was added gene: PAH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAH were set to 2840952; 1360590; 2884570; 1301201; 7981714; 8829656; 1769645; 3008810; 1358789; 1363838; 2574002; 8088845; 8097261; 1312992; 2564729; 1349576; 2044609; 1671881; 2014802; 2573272; 1679030; 9950317; 1301200; 8098245; 8364546; 1975559; 2309142; 1301193; 1671810; 1682235; 1709636; 2035532; 1363837; 2071149; 2816939; 1301947; 2606484; 11935335; 1997387 Phenotypes for gene: PAH were set to NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA 261600 |
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| DDG2P v0.1 | PAFAH1B1 | Rebecca Foulger Added phenotypes SUBCORTICAL BAND HETEROTOPIA 607432 for gene: PAFAH1B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PAFAH1B1 |
Rebecca Foulger gene: PAFAH1B1 was added gene: PAFAH1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAFAH1B1 were set to 14581661; 10441340; 11502906; 15007136 Phenotypes for gene: PAFAH1B1 were set to LISSENCEPHALY TYPE 1 607432 |
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| DDG2P v0.1 | PACS2 |
Rebecca Foulger gene: PACS2 was added gene: PACS2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PACS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PACS2 were set to 28867141 Phenotypes for gene: PACS2 were set to Unspecified Neurodevelopmental Disorder Mode of pathogenicity for gene: PACS2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PACS1 |
Rebecca Foulger gene: PACS1 was added gene: PACS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PACS1 were set to 23159249 Phenotypes for gene: PACS1 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: PACS1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | P4HB |
Rebecca Foulger gene: P4HB was added gene: P4HB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: P4HB were set to 25683117 Phenotypes for gene: P4HB were set to COLE-CARPENTER SYNDROME 112240 Mode of pathogenicity for gene: P4HB was set to Other - please provide details in the comments |
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| DDG2P v0.1 | P3H1 |
Rebecca Foulger gene: P3H1 was added gene: P3H1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: P3H1 were set to 17277775; 19088120 Phenotypes for gene: P3H1 were set to OSTEOGENESIS IMPERFECTA, TYPE VIII 610915 |
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| DDG2P v0.1 | OXCT1 |
Rebecca Foulger gene: OXCT1 was added gene: OXCT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXCT1 were set to 23281106; 1405472; 9671268; 10964512 Phenotypes for gene: OXCT1 were set to SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY 245050 |
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| DDG2P v0.1 | OTX2 |
Rebecca Foulger gene: OTX2 was added gene: OTX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OTX2 were set to 18854396; 20396904; 19965921; 19956411; 15846561; 18628516 Phenotypes for gene: OTX2 were set to MICROPHTHALMIA SYNDROMIC TYPE 5 610125 |
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| DDG2P v0.1 | OTULIN |
Rebecca Foulger gene: OTULIN was added gene: OTULIN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTULIN were set to 27686184; 27523608; 27559085 Phenotypes for gene: OTULIN were set to Otulin-related auto inflammatory syndrome |
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| DDG2P v0.1 | OTUD7A |
Rebecca Foulger gene: OTUD7A was added gene: OTUD7A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: OTUD7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OTUD7A were set to 29395074 Phenotypes for gene: OTUD7A were set to 15q13.3 deletions phenocopy |
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| DDG2P v0.1 | OTUD6B |
Rebecca Foulger gene: OTUD6B was added gene: OTUD6B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTUD6B were set to 28343629 Phenotypes for gene: OTUD6B were set to Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features |
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| DDG2P v0.1 | OTOGL |
Rebecca Foulger gene: OTOGL was added gene: OTOGL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTOGL were set to 23122586 Phenotypes for gene: OTOGL were set to MODERATE SENSORINEURAL HEARING LOSS 614944 |
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| DDG2P v0.1 | OTC |
Rebecca Foulger gene: OTC was added gene: OTC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OTC were set to 10405441; 3170748; 1721894; 2347583; 2843770; 1353535; 1480464; 11260212; 2035531; 9056557; 2037279; 7860064 Phenotypes for gene: OTC were set to ORNITHINE TRANSCARBAMYLASE DEFICIENCY 311250 |
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| DDG2P v0.1 | OSGEP |
Rebecca Foulger gene: OSGEP was added gene: OSGEP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSGEP were set to 28805828 Phenotypes for gene: OSGEP were set to Nephrotic syndrome with primary microcephaly Mode of pathogenicity for gene: OSGEP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ORC6 |
Rebecca Foulger gene: ORC6 was added gene: ORC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ORC6 were set to 7710253 Phenotypes for gene: ORC6 were set to MEIER-GORLIN SYNDROME 3 613803 |
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| DDG2P v0.1 | ORC4 |
Rebecca Foulger gene: ORC4 was added gene: ORC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ORC4 were set to 11477602 Phenotypes for gene: ORC4 were set to MEIER-GORLIN SYNDROME 2 613800 |
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| DDG2P v0.1 | ORC1 |
Rebecca Foulger gene: ORC1 was added gene: ORC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ORC1 were set to 21358633 Phenotypes for gene: ORC1 were set to MEIER-GORLIN SYNDROME 1 224690 |
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| DDG2P v0.1 | OPHN1 |
Rebecca Foulger gene: OPHN1 was added gene: OPHN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OPHN1 were set to 12805098; 12807966; 16158428; 20528889; 9582072 Phenotypes for gene: OPHN1 were set to MENTAL RETARDATION X-LINKED OPHN1-RELATED 300486 |
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| DDG2P v0.1 | OFD1 |
Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 10 300804 for gene: OFD1 Publications for gene OFD1 were changed from 16783569 to 22353940; 19800048 |
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| DDG2P v0.1 | OFD1 |
Rebecca Foulger Added phenotypes SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2 300209 for gene: OFD1 Publications for gene OFD1 were changed from 9198060; 15221448; 9482645; 11179005; 11950863 to 16783569 |
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| DDG2P v0.1 | OFD1 |
Rebecca Foulger gene: OFD1 was added gene: OFD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: OFD1 were set to 9198060; 15221448; 9482645; 11179005; 11950863 Phenotypes for gene: OFD1 were set to ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 311200 |
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| DDG2P v0.1 | OCRL |
Rebecca Foulger Added phenotypes DENT DISEASE TYPE 2 300555 for gene: OCRL Publications for gene OCRL were changed from 9632163 to 15627218 |
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| DDG2P v0.1 | OCRL |
Rebecca Foulger gene: OCRL was added gene: OCRL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OCRL were set to 9632163 Phenotypes for gene: OCRL were set to LOWE OCULOCEREBRORENAL SYNDROME 309000 |
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| DDG2P v0.1 | OBSL1 |
Rebecca Foulger gene: OBSL1 was added gene: OBSL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OBSL1 were set to 19481195 Phenotypes for gene: OBSL1 were set to 3-M SYNDROME 2 612921 |
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| DDG2P v0.1 | NYX |
Rebecca Foulger gene: NYX was added gene: NYX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NYX were set to 11062471; 16670814; 11062472 Phenotypes for gene: NYX were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A 310500 |
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| DDG2P v0.1 | NUS1 |
Rebecca Foulger gene: NUS1 was added gene: NUS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NUS1 were set to 29100083 Phenotypes for gene: NUS1 were set to Epilepsy and intellectual disability |
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| DDG2P v0.1 | NUP62 |
Rebecca Foulger gene: NUP62 was added gene: NUP62 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP62 were set to 16786527 Phenotypes for gene: NUP62 were set to INFANTILE STRIATONIGRAL DEGENERATION 271930 Mode of pathogenicity for gene: NUP62 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NUP107 |
Rebecca Foulger gene: NUP107 was added gene: NUP107 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP107 were set to 26411495 Phenotypes for gene: NUP107 were set to EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME |
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| DDG2P v0.1 | NUBPL |
Rebecca Foulger gene: NUBPL was added gene: NUBPL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUBPL were set to MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 |
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| DDG2P v0.1 | NTRK2 |
Rebecca Foulger gene: NTRK2 was added gene: NTRK2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NTRK2 were set to 29100083 Phenotypes for gene: NTRK2 were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: NTRK2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NTRK1 |
Rebecca Foulger gene: NTRK1 was added gene: NTRK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NTRK1 were set to 10330344; 19250380; 10233776; 10861667; 10982191; 8696348; 10090906 Phenotypes for gene: NTRK1 were set to CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS 256800 |
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| DDG2P v0.1 | NT5C3A |
Rebecca Foulger gene: NT5C3A was added gene: NT5C3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NT5C3A were set to HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY 266120 |
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| DDG2P v0.1 | NSUN2 |
Rebecca Foulger gene: NSUN2 was added gene: NSUN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN2 were set to 22541562; 22577224; 22541559; 21063731 Phenotypes for gene: NSUN2 were set to AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 611091 Mode of pathogenicity for gene: NSUN2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NSMCE3 |
Rebecca Foulger gene: NSMCE3 was added gene: NSMCE3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NSMCE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NSMCE3 were set to DISTINCT DNA BREAKAGE SYNDROME Mode of pathogenicity for gene: NSMCE3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NSDHL |
Rebecca Foulger Added phenotypes CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS 308050 for gene: NSDHL Publications for gene NSDHL were changed from 19377476; 19842190 to 11907515; 10710235 |
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| DDG2P v0.1 | NSDHL |
Rebecca Foulger gene: NSDHL was added gene: NSDHL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NSDHL were set to 19377476; 19842190 Phenotypes for gene: NSDHL were set to CK SYNDROME 300831 |
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| DDG2P v0.1 | NSD1 |
Rebecca Foulger Added phenotypes SOTOS SYNDROME 117550 for gene: NSD1 Publications for gene NSD1 were changed from to 12525543; 11896389; 16222665 |
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| DDG2P v0.1 | NSD1 | Rebecca Foulger Added phenotypes BECKWITH-WIEDEMANN SYNDROME 130650 for gene: NSD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NSD1 |
Rebecca Foulger gene: NSD1 was added gene: NSD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NSD1 were set to WEAVER SYNDROME 277590 |
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| DDG2P v0.1 | NRXN3 |
Rebecca Foulger gene: NRXN3 was added gene: NRXN3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NRXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NRXN3 were set to 22209245 Phenotypes for gene: NRXN3 were set to AUTISM 209850 |
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| DDG2P v0.1 | NRXN2 |
Rebecca Foulger gene: NRXN2 was added gene: NRXN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NRXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NRXN2 were set to AUTISM 209850 |
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| DDG2P v0.1 | NRXN1 | Rebecca Foulger Added phenotypes PITT HOPKINS 2 for gene: NRXN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NRXN1 |
Rebecca Foulger gene: NRXN1 was added gene: NRXN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NRXN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: NRXN1 were set to AUTISM 209850 |
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| DDG2P v0.1 | NRAS |
Rebecca Foulger gene: NRAS was added gene: NRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NRAS were set to 19966803 Phenotypes for gene: NRAS were set to NOONAN SYNDROME TYPE 6 613224 Mode of pathogenicity for gene: NRAS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NR5A1 | Rebecca Foulger Added phenotypes SPERMATOGENIC FAILURE 8 613957 for gene: NR5A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NR5A1 |
Rebecca Foulger gene: NR5A1 was added gene: NR5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR5A1 were set to 46XY SEX REVERSAL 3 612965 Mode of pathogenicity for gene: NR5A1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NR2F2 |
Rebecca Foulger gene: NR2F2 was added gene: NR2F2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NR2F2 were set to 24702954 Phenotypes for gene: NR2F2 were set to CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 615779 |
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| DDG2P v0.1 | NR2F1 |
Rebecca Foulger gene: NR2F1 was added gene: NR2F1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NR2F1 were set to 24462372 Phenotypes for gene: NR2F1 were set to BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME 615722 |
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| DDG2P v0.1 | NR1I3 |
Rebecca Foulger gene: NR1I3 was added gene: NR1I3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NR1I3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR1I3 were set to EHMT1-LIKE INTELLECTUAL DISABILITY Mode of pathogenicity for gene: NR1I3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NPR2 |
Rebecca Foulger gene: NPR2 was added gene: NPR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPR2 were set to ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE 602875 |
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| DDG2P v0.1 | NPHS2 |
Rebecca Foulger gene: NPHS2 was added gene: NPHS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHS2 were set to 12464671; 8589695; 8606597; 10742096 Phenotypes for gene: NPHS2 were set to NEPHROTIC SYNDROME, TYPE 2 600995 |
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| DDG2P v0.1 | NPHS1 |
Rebecca Foulger gene: NPHS1 was added gene: NPHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHS1 were set to 17290294; 11854170; 10577936; 9660941; 10652016 Phenotypes for gene: NPHS1 were set to NEPHROTIC SYNDROME TYPE 1 256300 |
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| DDG2P v0.1 | NPHP4 |
Rebecca Foulger gene: NPHP4 was added gene: NPHP4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHP4 were set to 12244321 Phenotypes for gene: NPHP4 were set to NEPHRONOPHTHISIS TYPE 4 606966 |
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| DDG2P v0.1 | NPHP3 |
Rebecca Foulger Added phenotypes NEPHRONOPHTHISIS TYPE 3 604387 for gene: NPHP3 Publications for gene NPHP3 were changed from to 19303681; 12872122 |
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| DDG2P v0.1 | NPHP3 | Rebecca Foulger Added phenotypes RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540 for gene: NPHP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NPHP3 |
Rebecca Foulger gene: NPHP3 was added gene: NPHP3 was added to DDG2P. Sources: Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to MECKEL SYNDROME TYPE 7 267010 |
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| DDG2P v0.1 | NPHP1 | Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 4 609583 for gene: NPHP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NPHP1 |
Rebecca Foulger Added phenotypes NEPHRONOPHTHISIS TYPE 1 256100 for gene: NPHP1 Publications for gene NPHP1 were changed from to 9326933; 10839884; 8852662; 9382140 |
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| DDG2P v0.1 | NPHP1 |
Rebecca Foulger gene: NPHP1 was added gene: NPHP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP1 were set to SENIOR-LOKEN SYNDROME TYPE 1 266900 |
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| DDG2P v0.1 | NPC2 |
Rebecca Foulger gene: NPC2 was added gene: NPC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC2 were set to 11125141; 11567215; 12447927; 17470133 Phenotypes for gene: NPC2 were set to NIEMANN-PICK DISEASE, TYPE C2 607625 |
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| DDG2P v0.1 | NPC1 |
Rebecca Foulger gene: NPC1 was added gene: NPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC1 were set to 10480349; 11333381; 11349231; 12554680; 9245994; 11479732; 10521297; 9211849 Phenotypes for gene: NPC1 were set to NIEMANN-PICK DISEASE, TYPE C1 257220 |
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| DDG2P v0.1 | NOVA2 |
Rebecca Foulger gene: NOVA2 was added gene: NOVA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOVA2 were set to Intellectual disability with ataxia/spasticity |
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| DDG2P v0.1 | NOTCH3 |
Rebecca Foulger gene: NOTCH3 was added gene: NOTCH3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH3 were set to 23731542 Phenotypes for gene: NOTCH3 were set to INFANTILE MYOFIBROMATOSIS 615293 Mode of pathogenicity for gene: NOTCH3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NOTCH2 |
Rebecca Foulger gene: NOTCH2 was added gene: NOTCH2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH2 were set to 21712856; 21378989; 21378985 Phenotypes for gene: NOTCH2 were set to HAJDU-CHENEY SYNDROME 102500 Mode of pathogenicity for gene: NOTCH2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NOTCH1 |
Rebecca Foulger Added phenotypes ADAMS OLIVER SYNDROME for gene: NOTCH1 Publications for gene NOTCH1 were changed from 16025100 to 25132448 |
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| DDG2P v0.1 | NOTCH1 |
Rebecca Foulger gene: NOTCH1 was added gene: NOTCH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH1 were set to 16025100 Phenotypes for gene: NOTCH1 were set to LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION 109730 |
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| DDG2P v0.1 | NOP10 | Rebecca Foulger Added phenotypes NOP10-RELATED DYSKERATOSIS CONGENITA 318811 for gene: NOP10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NOP10 |
Rebecca Foulger gene: NOP10 was added gene: NOP10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOP10 were set to 17507419 Phenotypes for gene: NOP10 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 224230 Mode of pathogenicity for gene: NOP10 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NONO |
Rebecca Foulger gene: NONO was added gene: NONO was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NONO were set to 26571461; 27329731 Phenotypes for gene: NONO were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 |
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| DDG2P v0.1 | NOG |
Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE B2 611377 for gene: NOG Publications for gene NOG were changed from 11545688; 4019538 to 17668388 |
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| DDG2P v0.1 | NOG |
Rebecca Foulger Added phenotypes TARSAL-CARPAL COALITION SYNDROME 186570 for gene: NOG Publications for gene NOG were changed from 20503332; 11846737; 16532400; 3667255; 15770128 to 11545688; 4019538 |
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| DDG2P v0.1 | NOG |
Rebecca Foulger Added phenotypes MULTIPLE SYNOSTOSES SYNDROME TYPE 1 186500 for gene: NOG Publications for gene NOG were changed from 10069712; 12089654 to 20503332; 11846737; 16532400; 3667255; 15770128 |
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| DDG2P v0.1 | NOG |
Rebecca Foulger Added phenotypes STAPES ANKYLOSIS WITH BROAD THUMB AND TOES 184460 for gene: NOG Publications for gene NOG were changed from to 10069712; 12089654 |
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| DDG2P v0.1 | NOG |
Rebecca Foulger gene: NOG was added gene: NOG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOG were set to SYMPHALANGISM PROXIMAL SYNDROME 185800 |
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| DDG2P v0.1 | NODAL |
Rebecca Foulger gene: NODAL was added gene: NODAL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NODAL were set to HETEROTAXY SYNDROME 207574 |
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| DDG2P v0.1 | NMNAT1 |
Rebecca Foulger gene: NMNAT1 was added gene: NMNAT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT1 were set to 22842227; 22842230; 12734549 Phenotypes for gene: NMNAT1 were set to LEBER CONGENITAL AMAUROSIS 608553 |
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| DDG2P v0.1 | NLRP5 |
Rebecca Foulger gene: NLRP5 was added gene: NLRP5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NLRP5 was set to Publications for gene: NLRP5 were set to 26323243 Phenotypes for gene: NLRP5 were set to Multilocus imprinting disorder |
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| DDG2P v0.1 | NLGN4X |
Rebecca Foulger gene: NLGN4X was added gene: NLGN4X was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NLGN4X were set to SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2 300495 |
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| DDG2P v0.1 | NLGN3 |
Rebecca Foulger gene: NLGN3 was added gene: NLGN3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NLGN3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NLGN3 were set to 12669065 Phenotypes for gene: NLGN3 were set to AUTISM SPECTRUM DISORDERS 198890 |
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| DDG2P v0.1 | NKX6-2 |
Rebecca Foulger gene: NKX6-2 was added gene: NKX6-2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX6-2 were set to 28575651 Phenotypes for gene: NKX6-2 were set to Progressive Spastic Ataxia and Hypomyelination |
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| DDG2P v0.1 | NKX3-2 |
Rebecca Foulger gene: NKX3-2 was added gene: NKX3-2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NKX3-2 were set to SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA 613330 |
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| DDG2P v0.1 | NKX2-5 | Rebecca Foulger Added phenotypes CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5 225250 for gene: NKX2-5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NKX2-5 | Rebecca Foulger Added phenotypes TETRALOGY OF FALLOT 187500 for gene: NKX2-5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NKX2-5 |
Rebecca Foulger gene: NKX2-5 was added gene: NKX2-5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NKX2-5 were set to ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900 |
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| DDG2P v0.1 | NKX2-1 |
Rebecca Foulger Added phenotypes CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS 610978 for gene: NKX2-1 Publications for gene NKX2-1 were changed from to 15289765 |
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| DDG2P v0.1 | NKX2-1 |
Rebecca Foulger gene: NKX2-1 was added gene: NKX2-1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NKX2-1 were set to BENIGN HEREDITARY CHOREA 118700 |
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| DDG2P v0.1 | NIPBL |
Rebecca Foulger gene: NIPBL was added gene: NIPBL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NIPBL were set to 15146185; 16799922; 15146186; 15318302; 11391654 Phenotypes for gene: NIPBL were set to CORNELIA DE LANGE SYNDROME TYPE 1 122470 |
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| DDG2P v0.1 | NHS |
Rebecca Foulger Added phenotypes CATARACT CONGENITAL X-LINKED 302200 for gene: NHS Publications for gene NHS were changed from 15623749; 458526; 14564667; 2246772 to 19414485; 11836358 |
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| DDG2P v0.1 | NHS |
Rebecca Foulger gene: NHS was added gene: NHS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NHS were set to 15623749; 458526; 14564667; 2246772 Phenotypes for gene: NHS were set to NANCE-HORAN SYNDROME 302350 |
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| DDG2P v0.1 | NHP2 |
Rebecca Foulger gene: NHP2 was added gene: NHP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHP2 were set to 18523010 Phenotypes for gene: NHP2 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 613987 Mode of pathogenicity for gene: NHP2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NGLY1 |
Rebecca Foulger gene: NGLY1 was added gene: NGLY1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NGLY1 were set to 24651605 Phenotypes for gene: NGLY1 were set to CONGENITAL DISORDER OF DEGLYCOSYLATION 615273 |
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| DDG2P v0.1 | NFU1 |
Rebecca Foulger gene: NFU1 was added gene: NFU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFU1 were set to 22077971; 11156534 Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 605711 Mode of pathogenicity for gene: NFU1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NFIX |
Rebecca Foulger Added phenotypes MARSHALL-SMITH SYNDROME 602535 for gene: NFIX Publications for gene NFIX were changed from 22301465; 20673863 to 20673863 |
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| DDG2P v0.1 | NFIX |
Rebecca Foulger gene: NFIX was added gene: NFIX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFIX were set to 22301465; 20673863 Phenotypes for gene: NFIX were set to SOTOS-LIKE SYNDROME 614753 |
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| DDG2P v0.1 | NFIA |
Rebecca Foulger gene: NFIA was added gene: NFIA was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFIA were set to 17530927 Phenotypes for gene: NFIA were set to CHROMOSOME 1P32-P31 DELETION SYNDROME 613735 |
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| DDG2P v0.1 | NF1 |
Rebecca Foulger Added phenotypes FAMILIAL SPINAL NEUROFIBROMATOSIS 162210 for gene: NF1 Publications for gene NF1 were changed from 1302608; 8317503 to 1745350; 9529361; 11704931 |
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| DDG2P v0.1 | NF1 |
Rebecca Foulger Added phenotypes WATSON SYNDROME 193520 for gene: NF1 Publications for gene NF1 were changed from 11258625; 15520408; 9003501; 9668168; 12483293; 8664912; 1302608; 19449407; 15523642; 1783401; 1719426; 10712197; 1568247; 1937470; 13680360; 7633431; 12438263; 10677298; 15948193 to 1302608; 8317503 |
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| DDG2P v0.1 | NF1 |
Rebecca Foulger Added phenotypes NEUROFIBROMATOSIS TYPE 1 162200 for gene: NF1 Publications for gene NF1 were changed from 12707950; 19845691 to 11258625; 15520408; 9003501; 9668168; 12483293; 8664912; 1302608; 19449407; 15523642; 1783401; 1719426; 10712197; 1568247; 1937470; 13680360; 7633431; 12438263; 10677298; 15948193 |
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| DDG2P v0.1 | NF1 |
Rebecca Foulger gene: NF1 was added gene: NF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NF1 were set to 12707950; 19845691 Phenotypes for gene: NF1 were set to NEUROFIBROMATOSIS-NOONAN SYNDROME 601321 |
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| DDG2P v0.1 | NEXMIF |
Rebecca Foulger Added phenotypes Intellectual disability and epilepsy for gene: NEXMIF Publications for gene NEXMIF were changed from 15466006; 23615299 to 27568816; 26576034; 27358180 |
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| DDG2P v0.1 | NEXMIF |
Rebecca Foulger gene: NEXMIF was added gene: NEXMIF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NEXMIF were set to 15466006; 23615299 Phenotypes for gene: NEXMIF were set to KIAA2022 300912 |
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| DDG2P v0.1 | NEU1 |
Rebecca Foulger gene: NEU1 was added gene: NEU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEU1 were set to 10767332; 8985184; 14695530; 10944856; 9054950; 11470272; 11702224; 11829139 Phenotypes for gene: NEU1 were set to SIALIDOSIS 256550 |
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| DDG2P v0.1 | NEK8 |
Rebecca Foulger Added phenotypes RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 615415 for gene: NEK8 Publications for gene NEK8 were changed from 18199800 to 23418306 |
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| DDG2P v0.1 | NEK8 |
Rebecca Foulger gene: NEK8 was added gene: NEK8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK8 were set to 18199800 Phenotypes for gene: NEK8 were set to NEPHRONOPHTHISIS 9 613824 |
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| DDG2P v0.1 | NEK1 | Rebecca Foulger Added phenotypes SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520 for gene: NEK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NEK1 |
Rebecca Foulger gene: NEK1 was added gene: NEK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK1 were set to SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520 |
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| DDG2P v0.1 | NEDD4L |
Rebecca Foulger gene: NEDD4L was added gene: NEDD4L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NEDD4L were set to 23934111; 28515470; 27694961 Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly Mode of pathogenicity for gene: NEDD4L was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NECTIN4 |
Rebecca Foulger gene: NECTIN4 was added gene: NECTIN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NECTIN4 were set to 1646587; 21346770; 20691405 Phenotypes for gene: NECTIN4 were set to ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 613573 |
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| DDG2P v0.1 | NECTIN1 |
Rebecca Foulger gene: NECTIN1 was added gene: NECTIN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NECTIN1 were set to 10932188 Phenotypes for gene: NECTIN1 were set to CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME 225060 |
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| DDG2P v0.1 | NEB |
Rebecca Foulger gene: NEB was added gene: NEB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEB were set to 27105866; 27933661; 10051637 Phenotypes for gene: NEB were set to AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY 256030 |
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| DDG2P v0.1 | NDUFV1 |
Rebecca Foulger gene: NDUFV1 was added gene: NDUFV1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 Mode of pathogenicity for gene: NDUFV1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NDUFS8 |
Rebecca Foulger gene: NDUFS8 was added gene: NDUFS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS8 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 Mode of pathogenicity for gene: NDUFS8 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NDUFS7 |
Rebecca Foulger gene: NDUFS7 was added gene: NDUFS7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS7 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 |
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| DDG2P v0.1 | NDUFS4 | Rebecca Foulger Added phenotypes LEIGH SYNDROME DUP 256000 for gene: NDUFS4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NDUFS4 | Rebecca Foulger Added phenotypes LEIGH SYNDROME 256000 for gene: NDUFS4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NDUFS4 |
Rebecca Foulger gene: NDUFS4 was added gene: NDUFS4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS4 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 |
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| DDG2P v0.1 | NDUFS1 | Rebecca Foulger Added phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 for gene: NDUFS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NDUFS1 |
Rebecca Foulger gene: NDUFS1 was added gene: NDUFS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS1 were set to LEIGH SYNDROME 256000 |
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| DDG2P v0.1 | NDUFB11 |
Rebecca Foulger gene: NDUFB11 was added gene: NDUFB11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NDUFB11 were set to 25772934 Phenotypes for gene: NDUFB11 were set to MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME |
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| DDG2P v0.1 | NDUFAF2 |
Rebecca Foulger gene: NDUFAF2 was added gene: NDUFAF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF2 were set to LEIGH SYNDROME 256000 |
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| DDG2P v0.1 | NDUFA9 |
Rebecca Foulger gene: NDUFA9 was added gene: NDUFA9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA9 were set to LEIGH SYNDROME 256000 Mode of pathogenicity for gene: NDUFA9 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NDUFA10 |
Rebecca Foulger gene: NDUFA10 was added gene: NDUFA10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA10 were set to LEIGH SYNDROME DUP 256000 Mode of pathogenicity for gene: NDUFA10 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NDUFA1 |
Rebecca Foulger gene: NDUFA1 was added gene: NDUFA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDUFA1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 |
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| DDG2P v0.1 | NDST1 |
Rebecca Foulger gene: NDST1 was added gene: NDST1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NDST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDST1 were set to 21937992 Phenotypes for gene: NDST1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: NDST1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NDP |
Rebecca Foulger gene: NDP was added gene: NDP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NDP were set to 8240113; 1307245; 1303264; 8069314; 17334993; 8268931; 8790105; 7814011; 9143918; 8990009; 9382152 Phenotypes for gene: NDP were set to NORRIE DISEASE 310600 |
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| DDG2P v0.1 | NDE1 |
Rebecca Foulger gene: NDE1 was added gene: NDE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDE1 were set to 21529751; 21529752 Phenotypes for gene: NDE1 were set to LISSENCEPHALY 4 614019 |
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| DDG2P v0.1 | NCAPH |
Rebecca Foulger gene: NCAPH was added gene: NCAPH was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NCAPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCAPH were set to 27737959 Phenotypes for gene: NCAPH were set to microcephaly |
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| DDG2P v0.1 | NCAPD3 |
Rebecca Foulger gene: NCAPD3 was added gene: NCAPD3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NCAPD3 was set to Publications for gene: NCAPD3 were set to 27737959 Phenotypes for gene: NCAPD3 were set to Microcephaly with short stature |
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| DDG2P v0.1 | NCAPD2 |
Rebecca Foulger gene: NCAPD2 was added gene: NCAPD2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NCAPD2 was set to Publications for gene: NCAPD2 were set to 27737959 Phenotypes for gene: NCAPD2 were set to Microcephaly with short stature |
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| DDG2P v0.1 | NBN |
Rebecca Foulger gene: NBN was added gene: NBN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBN were set to 3802554; 9590180 Phenotypes for gene: NBN were set to NIJMEGEN BREAKAGE SYNDROME 251260 |
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| DDG2P v0.1 | NBAS |
Rebecca Foulger gene: NBAS was added gene: NBAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 26073778 Phenotypes for gene: NBAS were set to ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD |
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| DDG2P v0.1 | NAXE |
Rebecca Foulger gene: NAXE was added gene: NAXE was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAXE were set to 27616477 Phenotypes for gene: NAXE were set to Lethal Neurometabolic Disorder of Early Childhood |
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| DDG2P v0.1 | NANS |
Rebecca Foulger gene: NANS was added gene: NANS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NANS were set to 27213289 Phenotypes for gene: NANS were set to infantile-onset severe developmental delay and skeletal dysplasia |
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| DDG2P v0.1 | NALCN |
Rebecca Foulger Added phenotypes SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY for gene: NALCN Publications for gene NALCN were changed from 23749988 to 24075186 |
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| DDG2P v0.1 | NALCN |
Rebecca Foulger Added phenotypes HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 615419 for gene: NALCN Publications for gene NALCN were changed from 25683120 to 23749988 |
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| DDG2P v0.1 | NALCN |
Rebecca Foulger gene: NALCN was added gene: NALCN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NALCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NALCN were set to 25683120 Phenotypes for gene: NALCN were set to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 616266 |
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| DDG2P v0.1 | NAGS |
Rebecca Foulger gene: NAGS was added gene: NAGS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGS were set to 12754705; 12594532 Phenotypes for gene: NAGS were set to N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY 237310 |
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| DDG2P v0.1 | NAGLU |
Rebecca Foulger gene: NAGLU was added gene: NAGLU was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGLU were set to 12202988; 11068184; 10094189; 9832037; 8650226; 21937992 Phenotypes for gene: NAGLU were set to MUCOPOLYSACCHARIDOSIS TYPE 3B 252920 |
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| DDG2P v0.1 | NAGA |
Rebecca Foulger Added phenotypes SCHINDLER DISEASE 609241 for gene: NAGA Publications for gene NAGA were changed from 11251574; 8782044; 2564952 to 2243144; 8071745 |
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| DDG2P v0.1 | NAGA |
Rebecca Foulger gene: NAGA was added gene: NAGA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGA were set to 11251574; 8782044; 2564952 Phenotypes for gene: NAGA were set to KANZAKI DISEASE 609242 |
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| DDG2P v0.1 | NADK2 |
Rebecca Foulger gene: NADK2 was added gene: NADK2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NADK2 were set to 24847004 Phenotypes for gene: NADK2 were set to Dienoyl-CoA reductase deficiency with hyperlysinemia |
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| DDG2P v0.1 | NACC1 |
Rebecca Foulger gene: NACC1 was added gene: NACC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NACC1 were set to 28132692 Phenotypes for gene: NACC1 were set to Infantile Epilepsy, Cataracts, and Profound Developmental Delay Mode of pathogenicity for gene: NACC1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NAA15 |
Rebecca Foulger gene: NAA15 was added gene: NAA15 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NAA15 were set to 28191889; 23665959 Phenotypes for gene: NAA15 were set to CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER |
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| DDG2P v0.1 | NAA10 |
Rebecca Foulger Added phenotypes X-linked anophthalmia syndrome/Lenz for gene: NAA10 Publications for gene NAA10 were changed from 21700266 to 24431331 |
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| DDG2P v0.1 | NAA10 | Rebecca Foulger Added phenotypes X-linked anophthalmia syndrome for gene: NAA10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NAA10 |
Rebecca Foulger Added phenotypes OGDEN SYNDROME 300855 for gene: NAA10 Publications for gene NAA10 were changed from 25099252 to 21700266 |
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| DDG2P v0.1 | NAA10 |
Rebecca Foulger gene: NAA10 was added gene: NAA10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NAA10 were set to 25099252 Phenotypes for gene: NAA10 were set to NONPECIFIC SEVERE ID |
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| DDG2P v0.1 | MYT1L | Rebecca Foulger Added phenotypes MYT1L syndrome for gene: MYT1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYT1L |
Rebecca Foulger gene: MYT1L was added gene: MYT1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYT1L were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | MYT1 |
Rebecca Foulger gene: MYT1 was added gene: MYT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYT1 were set to 27358179 Phenotypes for gene: MYT1 were set to OAVS/Goldenhar syndrome |
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| DDG2P v0.1 | MYPN |
Rebecca Foulger gene: MYPN was added gene: MYPN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYPN were set to 28017374 Phenotypes for gene: MYPN were set to Childhood-Onset, Slowly Progressive Nemaline Myopathy |
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| DDG2P v0.1 | MYOC |
Rebecca Foulger gene: MYOC was added gene: MYOC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MYOC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYOC were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300 |
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| DDG2P v0.1 | MYO7A |
Rebecca Foulger Added phenotypes USHER SYNDROME TYPE 1B 276900 for gene: MYO7A Publications for gene MYO7A were changed from 9171833 to 7870171 |
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| DDG2P v0.1 | MYO7A |
Rebecca Foulger gene: MYO7A was added gene: MYO7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO7A were set to 9171833 Phenotypes for gene: MYO7A were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 2 600060 |
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| DDG2P v0.1 | MYO5B |
Rebecca Foulger gene: MYO5B was added gene: MYO5B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO5B were set to 18724368; 19006234 Phenotypes for gene: MYO5B were set to MICROVILLUS INCLUSION DISEASE 251850 |
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| DDG2P v0.1 | MYO5A |
Rebecca Foulger Added phenotypes GRISCELLI SYNDROME TYPE 3 609227 for gene: MYO5A Publications for gene MYO5A were changed from to 12148598 |
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| DDG2P v0.1 | MYO5A |
Rebecca Foulger gene: MYO5A was added gene: MYO5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO5A were set to ELEJALDE SYNDROME 256710 |
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| DDG2P v0.1 | MYLK |
Rebecca Foulger gene: MYLK was added gene: MYLK was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MYLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYLK were set to 28602422 Phenotypes for gene: MYLK were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome |
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| DDG2P v0.1 | MYH9 | Rebecca Foulger Added phenotypes MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 600208 for gene: MYH9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYH9 | Rebecca Foulger Added phenotypes FECHTNER SYNDROME 153640 for gene: MYH9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYH9 | Rebecca Foulger Added phenotypes EPSTEIN SYNDROME 153650 for gene: MYH9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYH9 | Rebecca Foulger Added phenotypes MAY-HEGGLIN ANOMALY 155100 for gene: MYH9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYH9 |
Rebecca Foulger Added phenotypes SEBASTIAN SYNDROME 605249 for gene: MYH9 Publications for gene MYH9 were changed from to 25077172 |
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| DDG2P v0.1 | MYH9 |
Rebecca Foulger gene: MYH9 was added gene: MYH9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH9 were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622 |
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| DDG2P v0.1 | MYH8 | Rebecca Foulger Added phenotypes DISTAL ARTHROGRYPOSIS TYPE 158300 for gene: MYH8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYH8 |
Rebecca Foulger gene: MYH8 was added gene: MYH8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH8 were set to CARNEY COMPLEX VARIANT 608837 |
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| DDG2P v0.1 | MYH6 | Rebecca Foulger Added phenotypes CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251 for gene: MYH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYH6 | Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED TYPE 1EE 613252 for gene: MYH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYH6 |
Rebecca Foulger gene: MYH6 was added gene: MYH6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH6 were set to ATRIAL SEPTAL DEFECT TYPE 3 160710 Mode of pathogenicity for gene: MYH6 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MYH3 |
Rebecca Foulger Added phenotypes DISTAL ARTHROGRYPOSIS TYPE 2A 193700 for gene: MYH3 Publications for gene MYH3 were changed from 16642020; 18695058 to 16642020 |
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| DDG2P v0.1 | MYH3 |
Rebecca Foulger gene: MYH3 was added gene: MYH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH3 were set to 16642020; 18695058 Phenotypes for gene: MYH3 were set to DISTAL ARTHROGRYPOSIS TYPE 2B 601680 Mode of pathogenicity for gene: MYH3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MYH11 |
Rebecca Foulger gene: MYH11 was added gene: MYH11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYH11 were set to 29575632; 25407000 Phenotypes for gene: MYH11 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome |
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| DDG2P v0.1 | MYH10 |
Rebecca Foulger gene: MYH10 was added gene: MYH10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH10 were set to 25356899; 25003005 Phenotypes for gene: MYH10 were set to MYH10-related Multiple congenital anomalies |
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| DDG2P v0.1 | MYCN |
Rebecca Foulger gene: MYCN was added gene: MYCN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYCN were set to 16906565; 18470948; 18671284; 15821734 Phenotypes for gene: MYCN were set to FEINGOLD SYNDROME TYPE 1 164280 |
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| DDG2P v0.1 | MUT |
Rebecca Foulger gene: MUT was added gene: MUT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to 1977311; 16281286; 2881300; 1670635; 7951229; 7909321; 17966092; 1968706; 11528502; 16451139 Phenotypes for gene: MUT were set to METHYLMALONIC ACIDURIA TYPE MUT 251000 |
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| DDG2P v0.1 | MT-TP |
Rebecca Foulger gene: MT-TP was added gene: MT-TP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL Phenotypes for gene: MT-TP were set to MERRF 545000 |
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| DDG2P v0.1 | MTRR |
Rebecca Foulger gene: MTRR was added gene: MTRR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTRR were set to 12555939; 15714522; 9501215 Phenotypes for gene: MTRR were set to HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE 236270 |
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| DDG2P v0.1 | MTR |
Rebecca Foulger gene: MTR was added gene: MTR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTR were set to 8968736; 9683607; 8968737; 12068375 Phenotypes for gene: MTR were set to METHYLCOBALAMIN DEFICIENCY TYPE G 250940 |
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| DDG2P v0.1 | MTOR |
Rebecca Foulger Added phenotypes Smith-Kingsmore syndrome for gene: MTOR Publications for gene MTOR were changed from 23934111 to 28892148 |
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| DDG2P v0.1 | MTOR |
Rebecca Foulger gene: MTOR was added gene: MTOR was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MTOR were set to 23934111 Phenotypes for gene: MTOR were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: MTOR was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MTO1 |
Rebecca Foulger gene: MTO1 was added gene: MTO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTO1 were set to 22608499 Phenotypes for gene: MTO1 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS 614702 |
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| DDG2P v0.1 | MTMR14 |
Rebecca Foulger gene: MTMR14 was added gene: MTMR14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MTMR14 was set to Phenotypes for gene: MTMR14 were set to CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150 Mode of pathogenicity for gene: MTMR14 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MTM1 |
Rebecca Foulger gene: MTM1 was added gene: MTM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MTM1 were set to 12859411; 11552027; 12707446; 9450905; 7611280; 8640223; 10790201; 9285787 Phenotypes for gene: MTM1 were set to MYOTUBULAR MYOPATHY, X-LINKED 310400 |
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| DDG2P v0.1 | MTHFR |
Rebecca Foulger gene: MTHFR was added gene: MTHFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTHFR were set to METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY 236250 |
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| DDG2P v0.1 | MTF1 |
Rebecca Foulger gene: MTF1 was added gene: MTF1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MTF1 were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | MSX2 | Rebecca Foulger Added phenotypes CRANIOSYNOSTOSIS, TYPE 2 604757 for gene: MSX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MSX2 |
Rebecca Foulger gene: MSX2 was added gene: MSX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MSX2 were set to 14571277 Phenotypes for gene: MSX2 were set to ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM 168550 |
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| DDG2P v0.1 | MSX1 |
Rebecca Foulger gene: MSX1 was added gene: MSX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MSX1 were set to 12807959; 15354328 Phenotypes for gene: MSX1 were set to CLEFT LIP +/- CLEFT PALATE 608874 |
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| DDG2P v0.1 | MSL3 |
Rebecca Foulger gene: MSL3 was added gene: MSL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MSL3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MSL3 were set to 30224647 Phenotypes for gene: MSL3 were set to MSL3 syndrome |
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| DDG2P v0.1 | MSI1 |
Rebecca Foulger gene: MSI1 was added gene: MSI1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MSI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSI1 were set to 28572454 Phenotypes for gene: MSI1 were set to MSI1-associated Microcephaly Mode of pathogenicity for gene: MSI1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MRPS34 |
Rebecca Foulger gene: MRPS34 was added gene: MRPS34 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS34 were set to 28777931 Phenotypes for gene: MRPS34 were set to Leigh Syndrome with Instability of the Small Mitoribosomal Subunit |
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| DDG2P v0.1 | MRPS22 |
Rebecca Foulger gene: MRPS22 was added gene: MRPS22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS22 were set to 17873122 Phenotypes for gene: MRPS22 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 611719 Mode of pathogenicity for gene: MRPS22 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MRE11 |
Rebecca Foulger gene: MRE11 was added gene: MRE11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRE11 were set to 10612394 Phenotypes for gene: MRE11 were set to ATAXIA TELANGIECTASIA-LIKE DISORDER 604391 |
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| DDG2P v0.1 | MPV17 |
Rebecca Foulger gene: MPV17 was added gene: MPV17 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPV17 were set to 18695062; 16582910 Phenotypes for gene: MPV17 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 6 256810 |
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| DDG2P v0.1 | MPLKIP |
Rebecca Foulger gene: MPLKIP was added gene: MPLKIP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPLKIP were set to TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 234050 |
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| DDG2P v0.1 | MPI |
Rebecca Foulger gene: MPI was added gene: MPI was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPI were set to 9585601; 9525984; 3080572 Phenotypes for gene: MPI were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 |
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| DDG2P v0.1 | MPDZ |
Rebecca Foulger gene: MPDZ was added gene: MPDZ was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDZ were set to 23240096 Phenotypes for gene: MPDZ were set to HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 615219 |
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| DDG2P v0.1 | MPDU1 |
Rebecca Foulger gene: MPDU1 was added gene: MPDU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDU1 were set to 11733556; 11733564 Phenotypes for gene: MPDU1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 |
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| DDG2P v0.1 | MORC2 |
Rebecca Foulger gene: MORC2 was added gene: MORC2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MORC2 was set to Publications for gene: MORC2 were set to 26497905 Phenotypes for gene: MORC2 were set to MORC2 - axonal neuropathy |
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| DDG2P v0.1 | MOGS |
Rebecca Foulger gene: MOGS was added gene: MOGS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOGS were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Mode of pathogenicity for gene: MOGS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MOCS2 |
Rebecca Foulger gene: MOCS2 was added gene: MOCS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOCS2 were set to MOLYBDENUM COFACTOR DEFICIENCY 603707 |
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| DDG2P v0.1 | MOCS1 |
Rebecca Foulger gene: MOCS1 was added gene: MOCS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOCS1 were set to MOLYBDENUM COFACTOR DEFICIENCY 603707 |
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| DDG2P v0.1 | MNX1 |
Rebecca Foulger gene: MNX1 was added gene: MNX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MNX1 were set to 9843207; 15216552; 10631160; 16906559; 7550324 Phenotypes for gene: MNX1 were set to CURRARINO SYNDROME 176450 |
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| DDG2P v0.1 | MMP21 |
Rebecca Foulger gene: MMP21 was added gene: MMP21 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP21 were set to 26437028; 26437029; 26429889 Phenotypes for gene: MMP21 were set to MMP21-associated heterotaxy |
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| DDG2P v0.1 | MMP14 |
Rebecca Foulger gene: MMP14 was added gene: MMP14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MMP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP14 were set to 22922033 Phenotypes for gene: MMP14 were set to WINCHESTER SYNDROME Mode of pathogenicity for gene: MMP14 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MMP13 | Rebecca Foulger Added phenotypes METAPHYSEAL ANADYSPLASIA TYPE 1 602111 for gene: MMP13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MMP13 |
Rebecca Foulger gene: MMP13 was added gene: MMP13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MMP13 were set to 8412645; 19615667 Phenotypes for gene: MMP13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE 602111 Mode of pathogenicity for gene: MMP13 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MMADHC |
Rebecca Foulger gene: MMADHC was added gene: MMADHC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMADHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD 277410 |
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| DDG2P v0.1 | MMACHC |
Rebecca Foulger gene: MMACHC was added gene: MMACHC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 16311595; 16714133; 11320193; 20631720 Phenotypes for gene: MMACHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE 277400 |
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| DDG2P v0.1 | MMAB |
Rebecca Foulger gene: MMAB was added gene: MMAB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAB were set to 12471062 Phenotypes for gene: MMAB were set to METHYLMALONIC ACIDURIA TYPE CBLB 251110 |
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| DDG2P v0.1 | MMAA |
Rebecca Foulger gene: MMAA was added gene: MMAA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAA were set to 12438653 Phenotypes for gene: MMAA were set to METHYLMALONIC ACIDURIA TYPE CBLA 251100 |
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| DDG2P v0.1 | MLYCD |
Rebecca Foulger gene: MLYCD was added gene: MLYCD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLYCD were set to MALONYL-COA DECARBOXYLASE DEFICIENCY 167676 |
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| DDG2P v0.1 | MLC1 |
Rebecca Foulger gene: MLC1 was added gene: MLC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLC1 were set to 11254442; 12189496; 14615938; 11935341; 21624973 Phenotypes for gene: MLC1 were set to LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS 604004 |
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| DDG2P v0.1 | MKS1 | Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 13 209900 for gene: MKS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MKS1 |
Rebecca Foulger gene: MKS1 was added gene: MKS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MKS1 were set to 17377820; 16415886 Phenotypes for gene: MKS1 were set to MECKEL SYNDROME TYPE 1 249000 |
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| DDG2P v0.1 | MKKS | Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 6 209900 for gene: MKKS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MKKS |
Rebecca Foulger gene: MKKS was added gene: MKKS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MKKS were set to 10802661 Phenotypes for gene: MKKS were set to MCKUSICK-KAUFMAN SYNDROME 236700 |
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| DDG2P v0.1 | MITF |
Rebecca Foulger Added phenotypes Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness for gene: MITF Publications for gene MITF were changed from 8490648; 8589691; 7874167; 9856573 to 27889061 |
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| DDG2P v0.1 | MITF |
Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 2A 193510 for gene: MITF Publications for gene MITF were changed from 8589691; 10851256 to 8490648; 8589691; 7874167; 9856573 |
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| DDG2P v0.1 | MITF |
Rebecca Foulger Added phenotypes TIETZ SYNDROME 103500 for gene: MITF Publications for gene MITF were changed from 9158138 to 8589691; 10851256 |
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| DDG2P v0.1 | MITF |
Rebecca Foulger gene: MITF was added gene: MITF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MITF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MITF were set to 9158138 Phenotypes for gene: MITF were set to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470 |
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| DDG2P v0.1 | MIR184 |
Rebecca Foulger gene: MIR184 was added gene: MIR184 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MIR184 were set to 21996275 Phenotypes for gene: MIR184 were set to EDICT SYNDROME 614303; KERATOCONUS WITH CATARACT Mode of pathogenicity for gene: MIR184 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MIR17HG |
Rebecca Foulger gene: MIR17HG was added gene: MIR17HG was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MIR17HG were set to 21892160 Phenotypes for gene: MIR17HG were set to FEINGOLD SYNDROME 614326 |
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| DDG2P v0.1 | MID1 |
Rebecca Foulger gene: MID1 was added gene: MID1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MID1 were set to 17221865; 12545276; 15558842 Phenotypes for gene: MID1 were set to OPITZ G/BBB SYNDROME, X-LINKED 300000 |
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| DDG2P v0.1 | MICU1 |
Rebecca Foulger gene: MICU1 was added gene: MICU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MICU1 were set to 24336167 Phenotypes for gene: MICU1 were set to MYOPATHY WITH EXTRAPYRAMIDAL SIGNS 615673 |
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| DDG2P v0.1 | MGP |
Rebecca Foulger gene: MGP was added gene: MGP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MGP were set to 9916809; 15810001 Phenotypes for gene: MGP were set to KEUTEL SYNDROME 245150 |
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| DDG2P v0.1 | MGAT2 |
Rebecca Foulger gene: MGAT2 was added gene: MGAT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MGAT2 were set to 11228641; 20684000; 8808595 Phenotypes for gene: MGAT2 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A 212066 |
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| DDG2P v0.1 | MFSD8 |
Rebecca Foulger gene: MFSD8 was added gene: MFSD8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFSD8 were set to MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS 610951 |
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| DDG2P v0.1 | MFSD2A |
Rebecca Foulger gene: MFSD2A was added gene: MFSD2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFSD2A were set to 26005865 Phenotypes for gene: MFSD2A were set to MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 616486 Mode of pathogenicity for gene: MFSD2A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MFRP |
Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED TYPE 5 611040 for gene: MFRP Publications for gene MFRP were changed from 1258954; 15976030 to 17167404 |
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| DDG2P v0.1 | MFRP |
Rebecca Foulger gene: MFRP was added gene: MFRP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFRP were set to 1258954; 15976030 Phenotypes for gene: MFRP were set to NANOPHTHALMOS 2 609549 |
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| DDG2P v0.1 | MESP2 |
Rebecca Foulger gene: MESP2 was added gene: MESP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MESP2 were set to 18485326; 15122512 Phenotypes for gene: MESP2 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 608681 |
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| DDG2P v0.1 | MEOX1 |
Rebecca Foulger gene: MEOX1 was added gene: MEOX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEOX1 were set to KLIPPEL-FEIL ANOMALY 118100 |
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| DDG2P v0.1 | MEGF8 |
Rebecca Foulger gene: MEGF8 was added gene: MEGF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEGF8 were set to CARPENTER SYNDROME 201000 |
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| DDG2P v0.1 | MEGF10 |
Rebecca Foulger gene: MEGF10 was added gene: MEGF10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MEGF10 were set to 22101682; 17236770; 22371254 Phenotypes for gene: MEGF10 were set to MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA 614399 |
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| DDG2P v0.1 | MEF2C |
Rebecca Foulger gene: MEF2C was added gene: MEF2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MEF2C were set to 20513142; 23001426; 19592390 Phenotypes for gene: MEF2C were set to MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS 613443 |
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| DDG2P v0.1 | MED23 |
Rebecca Foulger gene: MED23 was added gene: MED23 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MED23 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 18 614249 Mode of pathogenicity for gene: MED23 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MED17 |
Rebecca Foulger gene: MED17 was added gene: MED17 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED17 were set to 20950787 Phenotypes for gene: MED17 were set to MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY 613668 Mode of pathogenicity for gene: MED17 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MED13L |
Rebecca Foulger gene: MED13L was added gene: MED13L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MED13L were set to 23403903 Phenotypes for gene: MED13L were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | MED12 |
Rebecca Foulger Added phenotypes LUJAN-FRYNS SYNDROME 309520 for gene: MED12 Publications for gene MED12 were changed from 17334363 to 6711603 |
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| DDG2P v0.1 | MED12 |
Rebecca Foulger gene: MED12 was added gene: MED12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MED12 were set to 17334363 Phenotypes for gene: MED12 were set to OPITZ-KAVEGGIA SYNDROME 305450 Mode of pathogenicity for gene: MED12 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MECR |
Rebecca Foulger gene: MECR was added gene: MECR was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MECR were set to 27817865 Phenotypes for gene: MECR were set to Childhood-Onset Dystonia and Optic Atrophy |
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| DDG2P v0.1 | MECP2 |
Rebecca Foulger Added phenotypes ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS 300673 for gene: MECP2 Publications for gene MECP2 were changed from 29618507 to 11402105; 11238684 |
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| DDG2P v0.1 | MECP2 |
Rebecca Foulger Added phenotypes CHROMOSOME XQ28 DUPLICATION SYNDROME 300815 for gene: MECP2 Publications for gene MECP2 were changed from 9377804; 12615169; 16966553; 10232754; 11007980; 11807877 to 29618507 |
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| DDG2P v0.1 | MECP2 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 300055 for gene: MECP2 Publications for gene MECP2 were changed from 15689435 to 9377804; 12615169; 16966553; 10232754; 11007980; 11807877 |
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| DDG2P v0.1 | MECP2 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE 300260 for gene: MECP2 Publications for gene MECP2 were changed from 15034579; 10577905; 16630165; 10508514; 19034540; 5300597; 11313756; 18989701; 12481990; 10767337; 11214906; 11022934; 11930274; 10814718; 15857422; 10854091 to 15689435 |
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| DDG2P v0.1 | MECP2 |
Rebecca Foulger gene: MECP2 was added gene: MECP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MECP2 were set to 15034579; 10577905; 16630165; 10508514; 19034540; 5300597; 11313756; 18989701; 12481990; 10767337; 11214906; 11022934; 11930274; 10814718; 15857422; 10854091 Phenotypes for gene: MECP2 were set to RETT SYNDROME (RTT)[ 312750 |
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| DDG2P v0.1 | MECOM |
Rebecca Foulger gene: MECOM was added gene: MECOM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MECOM were set to 26581901 Phenotypes for gene: MECOM were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia Mode of pathogenicity for gene: MECOM was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MDH2 |
Rebecca Foulger gene: MDH2 was added gene: MDH2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDH2 were set to 27989324 Phenotypes for gene: MDH2 were set to Early-Onset Severe Encephalopathy |
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| DDG2P v0.1 | MCPH1 |
Rebecca Foulger gene: MCPH1 was added gene: MCPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCPH1 were set to 12046007; 7693575; 11857108; 16311745; 20978018 Phenotypes for gene: MCPH1 were set to MICROCEPHALY PRIMARY TYPE 1 251200 |
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| DDG2P v0.1 | MCOLN1 |
Rebecca Foulger gene: MCOLN1 was added gene: MCOLN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCOLN1 were set to 10441585; 15523648; 17239335; 10973263; 11030752 Phenotypes for gene: MCOLN1 were set to MUCOLIPIDOSIS IV 252650 |
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| DDG2P v0.1 | MCEE |
Rebecca Foulger gene: MCEE was added gene: MCEE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCEE were set to 16752391 Phenotypes for gene: MCEE were set to METHYLMALONYL-COA EPIMERASE DEFICIENCY 251120 |
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| DDG2P v0.1 | MCCC2 |
Rebecca Foulger gene: MCCC2 was added gene: MCCC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC2 were set to 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY 210210 |
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| DDG2P v0.1 | MCCC1 |
Rebecca Foulger gene: MCCC1 was added gene: MCCC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC1 were set to 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY 210200 |
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| DDG2P v0.1 | MC2R |
Rebecca Foulger gene: MC2R was added gene: MC2R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MC2R were set to 8227361; 18407210; 12213892; 18492762; 8636348; 8094489 Phenotypes for gene: MC2R were set to GLUCOCORTICOID DEFICIENCY 1 202200 |
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| DDG2P v0.1 | MBOAT7 |
Rebecca Foulger gene: MBOAT7 was added gene: MBOAT7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBOAT7 were set to 27616480 Phenotypes for gene: MBOAT7 were set to Intellectual Disability Accompanied by Epilepsy and Autistic Features |
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| DDG2P v0.1 | MBD5 |
Rebecca Foulger gene: MBD5 was added gene: MBD5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MBD5 were set to EHMT1-LIKE INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | MATN3 |
Rebecca Foulger gene: MATN3 was added gene: MATN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MATN3 were set to 15948199; 11479597; 13849708; 14729835 Phenotypes for gene: MATN3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 607078 Mode of pathogenicity for gene: MATN3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAT1A |
Rebecca Foulger gene: MAT1A was added gene: MAT1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAT1A were set to 8770875; 1527987; 10677294; 7560086; 7229751; 3812486; 1683972; 4421454 Phenotypes for gene: MAT1A were set to METHIONINE ADENOSYLTRANSFERASE DEFICIENCY 250850 |
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| DDG2P v0.1 | MASP1 |
Rebecca Foulger gene: MASP1 was added gene: MASP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MASP1 were set to 17937425; 21258343; 21035106 Phenotypes for gene: MASP1 were set to 3MC SYNDROME 1 257920 |
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| DDG2P v0.1 | MAPRE2 |
Rebecca Foulger gene: MAPRE2 was added gene: MAPRE2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAPRE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPRE2 were set to 26637975 Phenotypes for gene: MAPRE2 were set to Circumferential Skin Creases Kunze Type Mode of pathogenicity for gene: MAPRE2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAPK10 |
Rebecca Foulger gene: MAPK10 was added gene: MAPK10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MAPK10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAPK10 were set to EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE 606369 |
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| DDG2P v0.1 | MAP3K7 |
Rebecca Foulger Added phenotypes FRONTOMETAPHYSEAL DYSPLASIA 305620 for gene: MAP3K7 Publications for gene MAP3K7 were changed from 27426734 to 27426734; 27426733 |
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| DDG2P v0.1 | MAP3K7 |
Rebecca Foulger gene: MAP3K7 was added gene: MAP3K7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP3K7 were set to 27426734 Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome Mode of pathogenicity for gene: MAP3K7 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAP3K1 |
Rebecca Foulger gene: MAP3K1 was added gene: MAP3K1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAP3K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP3K1 were set to 5419329; 21129722; 12476449 Phenotypes for gene: MAP3K1 were set to 46XY SEX REVERSAL 6 613762 |
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| DDG2P v0.1 | MAP2K2 |
Rebecca Foulger gene: MAP2K2 was added gene: MAP2K2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME 115150 Mode of pathogenicity for gene: MAP2K2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAP2K1 |
Rebecca Foulger gene: MAP2K1 was added gene: MAP2K1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAP2K1 were set to CARDIOFACIOCUTANEOUS SYNDROME 115150 Mode of pathogenicity for gene: MAP2K1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAOA |
Rebecca Foulger gene: MAOA was added gene: MAOA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAOA were set to 24169519 Phenotypes for gene: MAOA were set to BRUNNER SYNDROME 300615 |
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| DDG2P v0.1 | MANBA |
Rebecca Foulger gene: MANBA was added gene: MANBA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MANBA were set to 16401745; 12890191; 3762648; 1499588; 2079835; 1623631 Phenotypes for gene: MANBA were set to LYSOSOMAL BETA-MANNOSIDOSIS 248510 |
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| DDG2P v0.1 | MAN2B1 |
Rebecca Foulger gene: MAN2B1 was added gene: MAN2B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B1 were set to 22161967; 4358183; 9158146; 9758606 Phenotypes for gene: MAN2B1 were set to LYSOSOMAL ALPHA-MANNOSIDOSIS 248500 |
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| DDG2P v0.1 | MAN1B1 |
Rebecca Foulger gene: MAN1B1 was added gene: MAN1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN1B1 were set to 26577042; 24348268; 21763484; 24566669; 26279649; 21937992 Phenotypes for gene: MAN1B1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: MAN1B1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAMLD1 |
Rebecca Foulger gene: MAMLD1 was added gene: MAMLD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAMLD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAMLD1 were set to 17086185 Phenotypes for gene: MAMLD1 were set to X-LINKED HYPOSPADIAS TYPE 2 300758 |
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| DDG2P v0.1 | MAGT1 |
Rebecca Foulger gene: MAGT1 was added gene: MAGT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAGT1 were set to 18455129 Phenotypes for gene: MAGT1 were set to MENTAL RETARDATION X-LINKED TYPE 95 300716 |
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| DDG2P v0.1 | MAGI2 |
Rebecca Foulger gene: MAGI2 was added gene: MAGI2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAGI2 were set to 18565486 Phenotypes for gene: MAGI2 were set to EARLY ONSET EPILEPTIC ENCEPHALOPATHY |
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| DDG2P v0.1 | MAGEL2 |
Rebecca Foulger Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA for gene: MAGEL2 Publications for gene MAGEL2 were changed from 27195816; 24076603 to 26365340 |
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| DDG2P v0.1 | MAGEL2 |
Rebecca Foulger gene: MAGEL2 was added gene: MAGEL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: MAGEL2 were set to 27195816; 24076603 Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome |
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| DDG2P v0.1 | MAFB |
Rebecca Foulger Added phenotypes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects for gene: MAFB Publications for gene MAFB were changed from 22387013 to 27181683 |
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| DDG2P v0.1 | MAFB |
Rebecca Foulger gene: MAFB was added gene: MAFB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAFB were set to 22387013 Phenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME 166300 |
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| DDG2P v0.1 | MAF | Rebecca Foulger Added phenotypes CATARACT CONGENITAL CERULEAN TYPE 4 610202 for gene: MAF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MAF |
Rebecca Foulger Added phenotypes CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202 for gene: MAF Publications for gene MAF were changed from to 16470690; 11772997 |
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| DDG2P v0.1 | MAF |
Rebecca Foulger gene: MAF was added gene: MAF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAF were set to CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES Mode of pathogenicity for gene: MAF was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAB21L2 | Rebecca Foulger Added phenotypes MICROPHTHALMIA, SYNDROMIC 14 615877 for gene: MAB21L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MAB21L2 |
Rebecca Foulger gene: MAB21L2 was added gene: MAB21L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAB21L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MAB21L2 were set to 24906020 Phenotypes for gene: MAB21L2 were set to MICROPHTHALMIA, SYNDROMIC 14 615877 |
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| DDG2P v0.1 | LYST |
Rebecca Foulger gene: LYST was added gene: LYST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYST were set to 8896560; 9215679; 8751863; 11857544; 10482950; 9215680 Phenotypes for gene: LYST were set to CHEDIAK-HIGASHI SYNDROME 214500 |
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| DDG2P v0.1 | LTBP3 |
Rebecca Foulger gene: LTBP3 was added gene: LTBP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP3 were set to 25669657 Phenotypes for gene: LTBP3 were set to PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA 601216 |
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| DDG2P v0.1 | LTBP2 |
Rebecca Foulger Added phenotypes PRIMARY CONGENITAL GLAUCOMA TYPE 3D 613086 for gene: LTBP2 Publications for gene LTBP2 were changed from 20617341; 22025892; 20179738 to 19656777; 19361779 |
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| DDG2P v0.1 | LTBP2 |
Rebecca Foulger gene: LTBP2 was added gene: LTBP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP2 were set to 20617341; 22025892; 20179738 Phenotypes for gene: LTBP2 were set to MICROSPHEROPHAKIA 251750 |
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| DDG2P v0.1 | LRRC6 |
Rebecca Foulger gene: LRRC6 was added gene: LRRC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRRC6 were set to 23122589 Phenotypes for gene: LRRC6 were set to PRIMARY CILIARY DISKINESIA 614935 |
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| DDG2P v0.1 | LRPPRC |
Rebecca Foulger gene: LRPPRC was added gene: LRPPRC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRPPRC were set to 12529507 Phenotypes for gene: LRPPRC were set to LEIGH SYNDROME, FRENCH-CANADIAN TYPE 220111 |
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| DDG2P v0.1 | LRPAP1 |
Rebecca Foulger gene: LRPAP1 was added gene: LRPAP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LRPAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRPAP1 were set to 23830514 Phenotypes for gene: LRPAP1 were set to MYOPIA 23, AUTOSOMAL RECESSIVE 615431; EXTREME MYOPIA |
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| DDG2P v0.1 | LRP6 |
Rebecca Foulger gene: LRP6 was added gene: LRP6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LRP6 were set to 26963285 Phenotypes for gene: LRP6 were set to Tooth Agenesis |
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| DDG2P v0.1 | LRP5 |
Rebecca Foulger Added phenotypes OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME 259770 for gene: LRP5 Publications for gene LRP5 were changed from 9056564; 9831343; 15024691; 15981244 to 20034086; 11719191 |
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| DDG2P v0.1 | LRP5 |
Rebecca Foulger Added phenotypes VITREORETINOPATHY EXUDATIVE TYPE 4 601813 for gene: LRP5 Publications for gene LRP5 were changed from 12579474 to 9056564; 9831343; 15024691; 15981244 |
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| DDG2P v0.1 | LRP5 | Rebecca Foulger Added phenotypes ENDOSTEAL HYPEROSTOSIS WORTH TYPE 144750 for gene: LRP5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LRP5 |
Rebecca Foulger Added phenotypes OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1 607634 for gene: LRP5 Publications for gene LRP5 were changed from 11741193; 14727154 to 12579474 |
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| DDG2P v0.1 | LRP5 |
Rebecca Foulger gene: LRP5 was added gene: LRP5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LRP5 were set to 11741193; 14727154 Phenotypes for gene: LRP5 were set to HIGH BONE MASS TRAIT 601884 |
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| DDG2P v0.1 | LRP4 |
Rebecca Foulger gene: LRP4 was added gene: LRP4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRP4 were set to 11260233; 14577675; 9182770; 10756427; 18978656; 20381006; 12868467 Phenotypes for gene: LRP4 were set to CENANI-LENZ SYNDACTYLY SYNDROME 212780 |
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| DDG2P v0.1 | LRP2 | Rebecca Foulger Added phenotypes DONNAI-BARROW SYNDROME 222448 for gene: LRP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LRP2 |
Rebecca Foulger gene: LRP2 was added gene: LRP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LRP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LRP2 were set to 23033978 Phenotypes for gene: LRP2 were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | LRIT3 |
Rebecca Foulger gene: LRIT3 was added gene: LRIT3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRIT3 were set to 23246293 Phenotypes for gene: LRIT3 were set to AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS 615058 |
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| DDG2P v0.1 | LRIG2 |
Rebecca Foulger gene: LRIG2 was added gene: LRIG2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRIG2 were set to UROFACIAL SYNDROME 236730 |
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| DDG2P v0.1 | LRBA |
Rebecca Foulger gene: LRBA was added gene: LRBA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 22608502 Phenotypes for gene: LRBA were set to CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA 614700 |
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| DDG2P v0.1 | LRAT |
Rebecca Foulger gene: LRAT was added gene: LRAT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRAT were set to LEBER CONGENITAL AMAUROSIS 608553 |
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| DDG2P v0.1 | LONP1 |
Rebecca Foulger gene: LONP1 was added gene: LONP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to 25574826 Phenotypes for gene: LONP1 were set to CODAS SYNDROME 600373 Mode of pathogenicity for gene: LONP1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LMX1B |
Rebecca Foulger gene: LMX1B was added gene: LMX1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMX1B were set to 9618165; 9837817; 10854116; 9590287; 18414507 Phenotypes for gene: LMX1B were set to NAIL-PATELLA SYNDROME 161200 |
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| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes HEART-HAND SYNDROME SLOVENIAN TYPE 610140 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes LETHAL TIGHT SKIN CONTRACTURE SYNDROME 275210 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B 159001 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 181350 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY 248370 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED 613205 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes HUTCHINSON-GILFORD PROGERIA SYNDROME 176670 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 605588 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 151660 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM 212112 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA |
Rebecca Foulger gene: LMNA was added gene: LMNA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LMNA were set to CARDIOMYOPATHY DILATED TYPE 1A 115200 |
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| DDG2P v0.1 | LMBRD1 |
Rebecca Foulger gene: LMBRD1 was added gene: LMBRD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMBRD1 were set to 19136951 Phenotypes for gene: LMBRD1 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF 277380 |
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| DDG2P v0.1 | LIPT2 |
Rebecca Foulger gene: LIPT2 was added gene: LIPT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPT2 were set to 28757203 Phenotypes for gene: LIPT2 were set to Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy Mode of pathogenicity for gene: LIPT2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LIPT1 |
Rebecca Foulger gene: LIPT1 was added gene: LIPT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPT1 were set to 24341803; 27247813; 24256811 Phenotypes for gene: LIPT1 were set to Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Mode of pathogenicity for gene: LIPT1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LIPN |
Rebecca Foulger gene: LIPN was added gene: LIPN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPN were set to 21439540 Phenotypes for gene: LIPN were set to ICHTHYOSIS, LAMELLAR, 4 613943 |
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| DDG2P v0.1 | LINS1 |
Rebecca Foulger gene: LINS1 was added gene: LINS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LINS1 were set to 21937992 Phenotypes for gene: LINS1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | LIG4 |
Rebecca Foulger Added phenotypes SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION 602450 for gene: LIG4 Publications for gene LIG4 were changed from 11779494 to 16357942 |
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| DDG2P v0.1 | LIG4 |
Rebecca Foulger gene: LIG4 was added gene: LIG4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG4 were set to 11779494 Phenotypes for gene: LIG4 were set to LIG4 SYNDROME 606593 |
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| DDG2P v0.1 | LIAS |
Rebecca Foulger gene: LIAS was added gene: LIAS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIAS were set to 22152680; 26108146 Phenotypes for gene: LIAS were set to Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation Mode of pathogenicity for gene: LIAS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LHX4 |
Rebecca Foulger gene: LHX4 was added gene: LHX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LHX4 were set to LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 290135 |
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| DDG2P v0.1 | LHX3 |
Rebecca Foulger gene: LHX3 was added gene: LHX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LHX3 were set to 18407919; 17327381; 10835633 Phenotypes for gene: LHX3 were set to PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 221750 |
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| DDG2P v0.1 | LGI4 |
Rebecca Foulger gene: LGI4 was added gene: LGI4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LGI4 were set to 28318499 Phenotypes for gene: LGI4 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA |
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| DDG2P v0.1 | LGI1 |
Rebecca Foulger gene: LGI1 was added gene: LGI1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LGI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LGI1 were set to AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES 600512 |
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| DDG2P v0.1 | LFNG |
Rebecca Foulger gene: LFNG was added gene: LFNG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LFNG were set to 16385447 Phenotypes for gene: LFNG were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 609813 Mode of pathogenicity for gene: LFNG was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LEMD3 | Rebecca Foulger Added phenotypes MELORHEOSTOSIS 155950 for gene: LEMD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LEMD3 |
Rebecca Foulger gene: LEMD3 was added gene: LEMD3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LEMD3 were set to 17223882; 19438932; 12749062; 9295073; 15489854 Phenotypes for gene: LEMD3 were set to BUSCHKE-OLLENDORFF SYNDROME 166700 |
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| DDG2P v0.1 | LEFTY2 |
Rebecca Foulger gene: LEFTY2 was added gene: LEFTY2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LEFTY2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LEFTY2 were set to 10053005 Phenotypes for gene: LEFTY2 were set to HETEROTAXY SYNDROME 207574 |
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| DDG2P v0.1 | LDB3 | Rebecca Foulger Added phenotypes MYOPATHY MYOFIBRILLAR TYPE 4 609452 for gene: LDB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LDB3 | Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED TYPE 1C 601493 for gene: LDB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LDB3 |
Rebecca Foulger gene: LDB3 was added gene: LDB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LDB3 were set to LEFT VENTRICULAR NON-COMPACTION TYPE 3 601493 Mode of pathogenicity for gene: LDB3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LBR |
Rebecca Foulger gene: LBR was added gene: LBR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LBR were set to 12618959 Phenotypes for gene: LBR were set to HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA 215140 |
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| DDG2P v0.1 | LAS1L |
Rebecca Foulger gene: LAS1L was added gene: LAS1L was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LAS1L was set to Publications for gene: LAS1L were set to 25644381 Phenotypes for gene: LAS1L were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | LARS2 |
Rebecca Foulger gene: LARS2 was added gene: LARS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARS2 were set to 23541342 Phenotypes for gene: LARS2 were set to PERRAULT SYNDROME Mode of pathogenicity for gene: LARS2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LARP7 |
Rebecca Foulger gene: LARP7 was added gene: LARP7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARP7 were set to 26374271; 21937992; 26607181 Phenotypes for gene: LARP7 were set to ALAZAMI SYNDROME 615071 |
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| DDG2P v0.1 | LARGE1 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 608840 for gene: LARGE1 Publications for gene LARGE1 were changed from 19299310; 19067344; 17436019 to 12966029; 21248746 |
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| DDG2P v0.1 | LARGE1 |
Rebecca Foulger gene: LARGE1 was added gene: LARGE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARGE1 were set to 19299310; 19067344; 17436019 Phenotypes for gene: LARGE1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6 613154 |
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| DDG2P v0.1 | LAMP2 |
Rebecca Foulger gene: LAMP2 was added gene: LAMP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: LAMP2 were set to 12112061; 15673802; 3087571; 10972294; 15253947; 8504498; 15907287 Phenotypes for gene: LAMP2 were set to DANON DISEASE 300257 |
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| DDG2P v0.1 | LAMC3 |
Rebecca Foulger gene: LAMC3 was added gene: LAMC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMC3 were set to 21572413 Phenotypes for gene: LAMC3 were set to OCCIPITAL CORTICAL MALFORMATIONS 614115 |
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| DDG2P v0.1 | LAMB1 |
Rebecca Foulger gene: LAMB1 was added gene: LAMB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB1 were set to COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES 615191 |
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| DDG2P v0.1 | LAMA2 |
Rebecca Foulger gene: LAMA2 was added gene: LAMA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA2 were set to 9158149; 12601554; 18700894; 16216942; 7550355; 11071490; 12552556; 11591858 Phenotypes for gene: LAMA2 were set to CONGENITAL MUSCULAR DYSTROPHY 607855 |
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| DDG2P v0.1 | LAMA1 |
Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: LAMA1 Publications for gene LAMA1 were changed from 25105227 to 21937992 |
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| DDG2P v0.1 | LAMA1 |
Rebecca Foulger gene: LAMA1 was added gene: LAMA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA1 were set to 25105227 Phenotypes for gene: LAMA1 were set to CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY |
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| DDG2P v0.1 | L2HGDH |
Rebecca Foulger gene: L2HGDH was added gene: L2HGDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: L2HGDH were set to 19911013; 15385440 Phenotypes for gene: L2HGDH were set to L-2-HYDROXYGLUTARIC ACIDURIA 236792 |
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| DDG2P v0.1 | L1CAM |
Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 1 303350 for gene: L1CAM Publications for gene L1CAM were changed from 26916325 to 7920659; 7920660; 3460961 |
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| DDG2P v0.1 | L1CAM |
Rebecca Foulger Added phenotypes PARTIAL AGENESIS OF THE CORPUS CALLOSUM 304100 for gene: L1CAM Publications for gene L1CAM were changed from 8929944; 15148591; 18136715; 9279760; 8401593; 8401576; 15368500; 1303258; 7881431; 7920659; 9643285; 11857550 to 26916325 |
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| DDG2P v0.1 | L1CAM |
Rebecca Foulger Added phenotypes HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS 307000 for gene: L1CAM Publications for gene L1CAM were changed from 7920659; 7920660; 3460961 to 8929944; 15148591; 18136715; 9279760; 8401593; 8401576; 15368500; 1303258; 7881431; 7920659; 9643285; 11857550 |
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| DDG2P v0.1 | L1CAM |
Rebecca Foulger gene: L1CAM was added gene: L1CAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: L1CAM were set to 7920659; 7920660; 3460961 Phenotypes for gene: L1CAM were set to MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME 303350 |
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| DDG2P v0.1 | KRT74 |
Rebecca Foulger gene: KRT74 was added gene: KRT74 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KRT74 were set to 21188418 Phenotypes for gene: KRT74 were set to HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 613981 Mode of pathogenicity for gene: KRT74 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KRIT1 |
Rebecca Foulger gene: KRIT1 was added gene: KRIT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRIT1 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 116860 |
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| DDG2P v0.1 | KRAS |
Rebecca Foulger Added phenotypes NOONAN SYNDROME TYPE 3 609942 for gene: KRAS Publications for gene KRAS were changed from to 16773572; 16474405; 19396835 |
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| DDG2P v0.1 | KRAS |
Rebecca Foulger gene: KRAS was added gene: KRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRAS were set to CARDIOFACIOCUTANEOUS SYNDROME 115150 Mode of pathogenicity for gene: KRAS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KPTN |
Rebecca Foulger gene: KPTN was added gene: KPTN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KPTN were set to 24239382 Phenotypes for gene: KPTN were set to MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES |
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| DDG2P v0.1 | KPNA7 |
Rebecca Foulger gene: KPNA7 was added gene: KPNA7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KPNA7 was set to Publications for gene: KPNA7 were set to 24045845 Phenotypes for gene: KPNA7 were set to Gomez-Lopez-Fernandes syndrome |
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| DDG2P v0.1 | KMT5B |
Rebecca Foulger gene: KMT5B was added gene: KMT5B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT5B were set to 29276005; 28135719 Phenotypes for gene: KMT5B were set to KMT5B syndrome |
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| DDG2P v0.1 | KMT2E |
Rebecca Foulger gene: KMT2E was added gene: KMT2E was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2E were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | KMT2D |
Rebecca Foulger gene: KMT2D was added gene: KMT2D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2D were set to KABUKI SYNDROME 147920 |
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| DDG2P v0.1 | KMT2C |
Rebecca Foulger gene: KMT2C was added gene: KMT2C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2C were set to 29276005; 29069077 Phenotypes for gene: KMT2C were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | KMT2B |
Rebecca Foulger gene: KMT2B was added gene: KMT2B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2B were set to 27992417; 27839873 Phenotypes for gene: KMT2B were set to Complex early-onset dystonia |
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| DDG2P v0.1 | KMT2A |
Rebecca Foulger gene: KMT2A was added gene: KMT2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2A were set to WIEDEMANN-STEINER SYNDROME 605130 |
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| DDG2P v0.1 | KLHL7 |
Rebecca Foulger gene: KLHL7 was added gene: KLHL7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL7 were set to 27392078 Phenotypes for gene: KLHL7 were set to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa Mode of pathogenicity for gene: KLHL7 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KLHL40 |
Rebecca Foulger gene: KLHL40 was added gene: KLHL40 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL40 were set to 23746549 Phenotypes for gene: KLHL40 were set to NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE 615348 |
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| DDG2P v0.1 | KLHL15 |
Rebecca Foulger gene: KLHL15 was added gene: KLHL15 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KLHL15 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: KLHL15 were set to 25644381 Phenotypes for gene: KLHL15 were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | KLF8 |
Rebecca Foulger gene: KLF8 was added gene: KLF8 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KLF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLF8 were set to 22495311 Phenotypes for gene: KLF8 were set to NONSYNDROMIC MENTAL RETARDATION |
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| DDG2P v0.1 | KLF1 |
Rebecca Foulger gene: KLF1 was added gene: KLF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLF1 were set to 21055716 Phenotypes for gene: KLF1 were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV 613673 Mode of pathogenicity for gene: KLF1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KITLG |
Rebecca Foulger gene: KITLG was added gene: KITLG was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KITLG were set to 26522471 Phenotypes for gene: KITLG were set to WAARDENBURG SYNDROME TYPE 2 Mode of pathogenicity for gene: KITLG was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KIT |
Rebecca Foulger gene: KIT was added gene: KIT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIT were set to HUMAN PIEBALDISM 172800 |
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| DDG2P v0.1 | KIRREL3 |
Rebecca Foulger gene: KIRREL3 was added gene: KIRREL3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KIRREL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIRREL3 were set to 19012874 Phenotypes for gene: KIRREL3 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 4 612581 Mode of pathogenicity for gene: KIRREL3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KIF7 |
Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: KIF7 Publications for gene KIF7 were changed from to 21937992 |
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| DDG2P v0.1 | KIF7 |
Rebecca Foulger gene: KIF7 was added gene: KIF7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF7 were set to ACROCALLOSAL SYNDROME 200990 |
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| DDG2P v0.1 | KIF5C |
Rebecca Foulger gene: KIF5C was added gene: KIF5C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5C were set to 23603762 Phenotypes for gene: KIF5C were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 615282 Mode of pathogenicity for gene: KIF5C was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KIF4A |
Rebecca Foulger gene: KIF4A was added gene: KIF4A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: KIF4A were set to 24812067 Phenotypes for gene: KIF4A were set to INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | KIF2A |
Rebecca Foulger gene: KIF2A was added gene: KIF2A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF2A were set to 23603762 Phenotypes for gene: KIF2A were set to MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY. Mode of pathogenicity for gene: KIF2A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KIF22 |
Rebecca Foulger gene: KIF22 was added gene: KIF22 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF22 were set to 19277648; 22152678 Phenotypes for gene: KIF22 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 603546 Mode of pathogenicity for gene: KIF22 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KIF1BP |
Rebecca Foulger gene: KIF1BP was added gene: KIF1BP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF1BP were set to 15883926 Phenotypes for gene: KIF1BP were set to GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME 609460 |
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| DDG2P v0.1 | KIF1A | Rebecca Foulger Added phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213 for gene: KIF1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KIF1A |
Rebecca Foulger Added phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213 for gene: KIF1A Publications for gene KIF1A were changed from 21376300 to 21820098 |
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| DDG2P v0.1 | KIF1A |
Rebecca Foulger gene: KIF1A was added gene: KIF1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KIF1A were set to 21376300 Phenotypes for gene: KIF1A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 614255 |
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| DDG2P v0.1 | KIF11 |
Rebecca Foulger gene: KIF11 was added gene: KIF11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF11 were set to 15930898; 22284827 Phenotypes for gene: KIF11 were set to AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY 152950 |
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| DDG2P v0.1 | KIDINS220 |
Rebecca Foulger gene: KIDINS220 was added gene: KIDINS220 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIDINS220 were set to 27005418 Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity. |
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| DDG2P v0.1 | KIAA1109 |
Rebecca Foulger gene: KIAA1109 was added gene: KIAA1109 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1109 were set to 25558065 Phenotypes for gene: KIAA1109 were set to Brain atrophy, Dandy Walker and Contractures Mode of pathogenicity for gene: KIAA1109 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KIAA0586 |
Rebecca Foulger gene: KIAA0586 was added gene: KIAA0586 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0586 were set to 26026149; 26437029 Phenotypes for gene: KIAA0586 were set to JOUBERT SYNDROME 614615 |
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| DDG2P v0.1 | KDM6B |
Rebecca Foulger gene: KDM6B was added gene: KDM6B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KDM6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDM6B were set to 21937992 Phenotypes for gene: KDM6B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: KDM6B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KDM6A |
Rebecca Foulger gene: KDM6A was added gene: KDM6A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: KDM6A were set to 23076834; 22197486 Phenotypes for gene: KDM6A were set to KABUKI SYNDROME 2 300867 |
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| DDG2P v0.1 | KDM5C |
Rebecca Foulger gene: KDM5C was added gene: KDM5C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: KDM5C were set to 18203167; 19826449; 18697827; 21575681; 15586325; 16538222; 10982473 Phenotypes for gene: KDM5C were set to MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED 300534 |
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| DDG2P v0.1 | KDM5B |
Rebecca Foulger gene: KDM5B was added gene: KDM5B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KDM5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM5B were set to 24307393; 28720891 Phenotypes for gene: KDM5B were set to Autism |
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| DDG2P v0.1 | KDM5A |
Rebecca Foulger gene: KDM5A was added gene: KDM5A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KDM5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDM5A were set to 21937992 Phenotypes for gene: KDM5A were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: KDM5A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KDM1A |
Rebecca Foulger gene: KDM1A was added gene: KDM1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM1A were set to 26656649 Phenotypes for gene: KDM1A were set to Developmental delay and distinctive facial features Mode of pathogenicity for gene: KDM1A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCTD7 |
Rebecca Foulger Added phenotypes PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 611726 for gene: KCTD7 Publications for gene KCTD7 were changed from to 17455289; 22693283; 22748208 |
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| DDG2P v0.1 | KCTD7 |
Rebecca Foulger gene: KCTD7 was added gene: KCTD7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCTD7 were set to NEURONAL CEROID LIPOFUSCINOSIS |
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| DDG2P v0.1 | KCTD1 |
Rebecca Foulger gene: KCTD1 was added gene: KCTD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCTD1 were set to 23541344 Phenotypes for gene: KCTD1 were set to SCALP-EAR-NIPPLE SYNDROME Mode of pathogenicity for gene: KCTD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNT1 |
Rebecca Foulger Added phenotypes SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY 614959 for gene: KCNT1 Publications for gene KCNT1 were changed from 23086397 to 23086397; 23086396 |
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| DDG2P v0.1 | KCNT1 |
Rebecca Foulger gene: KCNT1 was added gene: KCNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNT1 were set to 23086397 Phenotypes for gene: KCNT1 were set to MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Mode of pathogenicity for gene: KCNT1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNQ5 | Rebecca Foulger Added phenotypes Intellectual Disability with or without Epileptic Encephalopathy for gene: KCNQ5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KCNQ5 |
Rebecca Foulger gene: KCNQ5 was added gene: KCNQ5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNQ5 were set to 28669405 Phenotypes for gene: KCNQ5 were set to Intellectual Disability with or without Epileptic Encephalopathy |
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| DDG2P v0.1 | KCNQ3 |
Rebecca Foulger gene: KCNQ3 was added gene: KCNQ3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNQ3 were set to KCNQ3 syndrome Mode of pathogenicity for gene: KCNQ3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNQ2 |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 613720 for gene: KCNQ2 Publications for gene KCNQ2 were changed from 11572947; 9425895; 15249611; 16235065; 11175290; 9430594; 17872363; 10323247 to 22275249; 12742592 |
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| DDG2P v0.1 | KCNQ2 |
Rebecca Foulger gene: KCNQ2 was added gene: KCNQ2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNQ2 were set to 11572947; 9425895; 15249611; 16235065; 11175290; 9430594; 17872363; 10323247 Phenotypes for gene: KCNQ2 were set to BENIGN NEONATAL EPILEPSY TYPE 1 121200 |
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| DDG2P v0.1 | KCNQ1 |
Rebecca Foulger gene: KCNQ1 was added gene: KCNQ1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNQ1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 220400 |
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| DDG2P v0.1 | KCNMA1 |
Rebecca Foulger gene: KCNMA1 was added gene: KCNMA1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNMA1 were set to 15937479 Phenotypes for gene: KCNMA1 were set to GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 609446 Mode of pathogenicity for gene: KCNMA1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNK9 |
Rebecca Foulger gene: KCNK9 was added gene: KCNK9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: KCNK9 were set to BIRK-BAREL SYNDROME 612292 Mode of pathogenicity for gene: KCNK9 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNJ6 |
Rebecca Foulger gene: KCNJ6 was added gene: KCNJ6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNJ6 were set to 25620207 Phenotypes for gene: KCNJ6 were set to KEPPEN-LUBINSKY SYNDROME 614098 Mode of pathogenicity for gene: KCNJ6 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNJ11 | Rebecca Foulger Added phenotypes DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL 261090 for gene: KCNJ11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KCNJ11 |
Rebecca Foulger Added phenotypes DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL 261090 for gene: KCNJ11 Publications for gene KCNJ11 were changed from 9356020 to 8923010 |
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| DDG2P v0.1 | KCNJ11 |
Rebecca Foulger gene: KCNJ11 was added gene: KCNJ11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KCNJ11 were set to 9356020 Phenotypes for gene: KCNJ11 were set to FAMILIAL HYPERINSULINISM 3272 |
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| DDG2P v0.1 | KCNJ10 |
Rebecca Foulger gene: KCNJ10 was added gene: KCNJ10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNJ10 were set to 20651251; 19289823; 19420365; 21849804 Phenotypes for gene: KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE 612780 |
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| DDG2P v0.1 | KCNH5 |
Rebecca Foulger gene: KCNH5 was added gene: KCNH5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNH5 were set to 23647072 Phenotypes for gene: KCNH5 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: KCNH5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNH1 |
Rebecca Foulger gene: KCNH1 was added gene: KCNH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNH1 were set to 25420144 Phenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME 611816 Mode of pathogenicity for gene: KCNH1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNE1 | Rebecca Foulger Added phenotypes LONG QT SYNDROME-5 613695 for gene: KCNE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KCNE1 |
Rebecca Foulger gene: KCNE1 was added gene: KCNE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KCNE1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 612347 Mode of pathogenicity for gene: KCNE1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNC3 |
Rebecca Foulger gene: KCNC3 was added gene: KCNC3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNC3 were set to SPINOCEREBELLAR ATAXIA TYPE 13 605259 Mode of pathogenicity for gene: KCNC3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNC1 |
Rebecca Foulger gene: KCNC1 was added gene: KCNC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNC1 were set to 25401298 Phenotypes for gene: KCNC1 were set to EPILEPSY, PROGRESSIVE MYOCLONIC 7 616187 Mode of pathogenicity for gene: KCNC1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNB1 |
Rebecca Foulger gene: KCNB1 was added gene: KCNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNB1 were set to 25164438 Phenotypes for gene: KCNB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 616056 Mode of pathogenicity for gene: KCNB1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNA2 | Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY. for gene: KCNA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KCNA2 |
Rebecca Foulger gene: KCNA2 was added gene: KCNA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNA2 were set to 25751627 Phenotypes for gene: KCNA2 were set to EPILEPTIC ENCEPHALOPATHY. |
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| DDG2P v0.1 | KBTBD13 |
Rebecca Foulger gene: KBTBD13 was added gene: KBTBD13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KBTBD13 were set to 21104864; 21109227; 12805120 Phenotypes for gene: KBTBD13 were set to NEMALINE MYOPATHY 6 609273 Mode of pathogenicity for gene: KBTBD13 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KAT6B |
Rebecca Foulger Added phenotypes GENITOPATELLAR SYNDROME 606170 for gene: KAT6B Publications for gene KAT6B were changed from to 12210330; 12949978; 16761293; 12210329; 22265014 |
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| DDG2P v0.1 | KAT6B |
Rebecca Foulger gene: KAT6B was added gene: KAT6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KAT6B were set to BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE |
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| DDG2P v0.1 | KAT6A |
Rebecca Foulger gene: KAT6A was added gene: KAT6A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KAT6A were set to 25728775; 30245513 Phenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 616268 |
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| DDG2P v0.1 | KARS |
Rebecca Foulger Added phenotypes DEAFNESS, AUTOSOMAL RECESSIVE 89 613916 for gene: KARS Publications for gene KARS were changed from 20920668 to 23768514 |
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| DDG2P v0.1 | KARS |
Rebecca Foulger gene: KARS was added gene: KARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KARS were set to 20920668 Phenotypes for gene: KARS were set to CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B 613641 |
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| DDG2P v0.1 | KANSL1 |
Rebecca Foulger gene: KANSL1 was added gene: KANSL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KANSL1 were set to 22544367; 22544363 Phenotypes for gene: KANSL1 were set to CHROMOSOME 17Q21.31 MICRODELETION SYNDROME 610443 |
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| DDG2P v0.1 | KANK1 |
Rebecca Foulger gene: KANK1 was added gene: KANK1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KANK1 was set to Publications for gene: KANK1 were set to 16301218 Phenotypes for gene: KANK1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2 612900 |
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| DDG2P v0.1 | JAM3 |
Rebecca Foulger gene: JAM3 was added gene: JAM3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAM3 were set to 21109224; 23255084 Phenotypes for gene: JAM3 were set to HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 613730 |
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| DDG2P v0.1 | JAK3 |
Rebecca Foulger gene: JAK3 was added gene: JAK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAK3 were set to 10982185; 7659163; 11741532; 7481768 Phenotypes for gene: JAK3 were set to SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED 600802 |
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| DDG2P v0.1 | JAGN1 |
Rebecca Foulger gene: JAGN1 was added gene: JAGN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAGN1 were set to 25129144 Phenotypes for gene: JAGN1 were set to SEVERE CONGENITAL NEUTROPENIA |
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| DDG2P v0.1 | JAG1 |
Rebecca Foulger gene: JAG1 was added gene: JAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: JAG1 were set to ALAGILLE SYNDROME 279357 |
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| DDG2P v0.1 | IVD |
Rebecca Foulger gene: IVD was added gene: IVD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IVD were set to 2063866; 15486829; 10677295; 1310317 Phenotypes for gene: IVD were set to ISOVALERIC ACIDEMIA 243500 |
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| DDG2P v0.1 | ITPR1 | Rebecca Foulger Added phenotypes Gillespie Syndrome for gene: ITPR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ITPR1 |
Rebecca Foulger Added phenotypes Gillespie Syndrome for gene: ITPR1 Publications for gene ITPR1 were changed from 22986007; 27062503 to 27108798; 27108797 |
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| DDG2P v0.1 | ITPR1 |
Rebecca Foulger Added phenotypes SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360 for gene: ITPR1 Publications for gene ITPR1 were changed from 17932120 to 22986007; 27062503 |
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| DDG2P v0.1 | ITPR1 |
Rebecca Foulger gene: ITPR1 was added gene: ITPR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ITPR1 were set to 17932120 Phenotypes for gene: ITPR1 were set to SPINOCEREBELLAR ATAXIA TYPE15 606658 |
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| DDG2P v0.1 | ITGA8 |
Rebecca Foulger gene: ITGA8 was added gene: ITGA8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA8 were set to RENAL HYPODYSPLASIA/APLASIA 1 191830 |
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| DDG2P v0.1 | ITGA7 |
Rebecca Foulger gene: ITGA7 was added gene: ITGA7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA7 were set to 9590299 Phenotypes for gene: ITGA7 were set to CONGENITAL MUSCULAR DYSTROPHY 607855 |
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| DDG2P v0.1 | ITGA6 |
Rebecca Foulger gene: ITGA6 was added gene: ITGA6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ITGA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ITGA6 were set to 9185503 Phenotypes for gene: ITGA6 were set to EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA 226730 |
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| DDG2P v0.1 | ITGA3 |
Rebecca Foulger gene: ITGA3 was added gene: ITGA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA3 were set to 22512483 Phenotypes for gene: ITGA3 were set to INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 614748 |
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| DDG2P v0.1 | ITCH |
Rebecca Foulger gene: ITCH was added gene: ITCH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITCH were set to 20170897 Phenotypes for gene: ITCH were set to AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM 613385 |
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| DDG2P v0.1 | ISPD |
Rebecca Foulger gene: ISPD was added gene: ISPD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISPD were set to 23217329; 22522420; 22522421; 7604843; 9492098 Phenotypes for gene: ISPD were set to WALKER WARBURG SYNDROME 614643 |
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| DDG2P v0.1 | IRX5 |
Rebecca Foulger gene: IRX5 was added gene: IRX5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IRX5 were set to HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY 611174 Mode of pathogenicity for gene: IRX5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IRF6 |
Rebecca Foulger Added phenotypes POPLITEAL PTERYGIUM SYNDROME 119500 for gene: IRF6 Publications for gene IRF6 were changed from 12219090; 18478600; 14618417; 14757865; 12920575; 19842205 to 12219090; 20803643 |
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| DDG2P v0.1 | IRF6 |
Rebecca Foulger gene: IRF6 was added gene: IRF6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IRF6 were set to 12219090; 18478600; 14618417; 14757865; 12920575; 19842205 Phenotypes for gene: IRF6 were set to VAN DER WOUDE SYNDROME 119300 |
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| DDG2P v0.1 | IQSEC2 |
Rebecca Foulger gene: IQSEC2 was added gene: IQSEC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IQSEC2 were set to 3177466; 7943039; 20473311 Phenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1 309530 Mode of pathogenicity for gene: IQSEC2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | INPPL1 |
Rebecca Foulger gene: INPPL1 was added gene: INPPL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPPL1 were set to 23273569 Phenotypes for gene: INPPL1 were set to OPSISMODYSPLASIA 258480 |
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| DDG2P v0.1 | INPP5K |
Rebecca Foulger gene: INPP5K was added gene: INPP5K was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5K were set to 28190459; 28190456 Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability Mode of pathogenicity for gene: INPP5K was set to Other - please provide details in the comments |
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| DDG2P v0.1 | INPP5E |
Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 1 213300 for gene: INPP5E Publications for gene INPP5E were changed from 19668215 to 19668216 |
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| DDG2P v0.1 | INPP5E |
Rebecca Foulger gene: INPP5E was added gene: INPP5E was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5E were set to 19668215 Phenotypes for gene: INPP5E were set to MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS 610156 |
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| DDG2P v0.1 | INPP4A |
Rebecca Foulger gene: INPP4A was added gene: INPP4A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP4A were set to 21937992 Phenotypes for gene: INPP4A were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | IMPAD1 |
Rebecca Foulger gene: IMPAD1 was added gene: IMPAD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IMPAD1 were set to 21549340 Phenotypes for gene: IMPAD1 were set to CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE 614078 |
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| DDG2P v0.1 | IL1RAPL1 |
Rebecca Foulger gene: IL1RAPL1 was added gene: IL1RAPL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IL1RAPL1 were set to 16470793; 18801879; 10471494; 19012350 Phenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21 300143 |
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| DDG2P v0.1 | IL11RA | Rebecca Foulger Added phenotypes Autosomal Recessive Craniosynostosis for gene: IL11RA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IL11RA |
Rebecca Foulger gene: IL11RA was added gene: IL11RA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL11RA were set to 24498618 Phenotypes for gene: IL11RA were set to Crouzon-like craniosynostosis |
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| DDG2P v0.1 | IL11 |
Rebecca Foulger gene: IL11 was added gene: IL11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: IL11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL11 were set to 21741611 Phenotypes for gene: IL11 were set to CRANIOSYNOSTOSIS AND DENTAL ANOMALIES 614188 Mode of pathogenicity for gene: IL11 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IKBKG |
Rebecca Foulger Added phenotypes SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1 300636 for gene: IKBKG Publications for gene IKBKG were changed from 12045264; 117248; 11224521; 11047757; 16228229; 14726382; 11242109 to 16818673 |
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| DDG2P v0.1 | IKBKG |
Rebecca Foulger Added phenotypes ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED 300291 for gene: IKBKG Publications for gene IKBKG were changed from 10839543; 9450877 to 12045264; 117248; 11224521; 11047757; 16228229; 14726382; 11242109 |
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| DDG2P v0.1 | IKBKG | Rebecca Foulger Added phenotypes ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA 300301 for gene: IKBKG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IKBKG |
Rebecca Foulger Added phenotypes INCONTINENTIA PIGMENTI 308300 for gene: IKBKG Publications for gene IKBKG were changed from 15356572; 15577852 to 10839543; 9450877 |
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| DDG2P v0.1 | IKBKG |
Rebecca Foulger gene: IKBKG was added gene: IKBKG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IKBKG was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: IKBKG were set to 15356572; 15577852 Phenotypes for gene: IKBKG were set to IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA 300584 |
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| DDG2P v0.1 | IHH |
Rebecca Foulger Added phenotypes ACROCAPITOFEMORAL DYSPLASIA 607778 for gene: IHH Publications for gene IHH were changed from 16871364; 19277064; 18629882; 12384778; 11455389; 12525541 to 12632327 |
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| DDG2P v0.1 | IHH |
Rebecca Foulger gene: IHH was added gene: IHH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IHH were set to 16871364; 19277064; 18629882; 12384778; 11455389; 12525541 Phenotypes for gene: IHH were set to BRACHYDACTYLY, TYPE A1 112500 Mode of pathogenicity for gene: IHH was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IGSF1 |
Rebecca Foulger gene: IGSF1 was added gene: IGSF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IGSF1 were set to 23143598 Phenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT 300888 |
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| DDG2P v0.1 | IGHMBP2 |
Rebecca Foulger gene: IGHMBP2 was added gene: IGHMBP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGHMBP2 were set to 11528396; 15290238 Phenotypes for gene: IGHMBP2 were set to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 604320 |
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| DDG2P v0.1 | IGFBP7 |
Rebecca Foulger gene: IGFBP7 was added gene: IGFBP7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGFBP7 were set to 12441727 Phenotypes for gene: IGFBP7 were set to RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS 614224 |
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| DDG2P v0.1 | IGF2 | Rebecca Foulger Added phenotypes BECKWITH-WIEDEMANN SYNDROME 130650 for gene: IGF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IGF2 |
Rebecca Foulger gene: IGF2 was added gene: IGF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: IGF2 were set to 26154720 Phenotypes for gene: IGF2 were set to CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME 180860 |
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| DDG2P v0.1 | IGF1R | Rebecca Foulger Added phenotypes INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450 for gene: IGF1R | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IGF1R |
Rebecca Foulger gene: IGF1R was added gene: IGF1R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IGF1R were set to 14657428 Phenotypes for gene: IGF1R were set to INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450 |
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| DDG2P v0.1 | IGF1 |
Rebecca Foulger gene: IGF1 was added gene: IGF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGF1 were set to 15769976; 8857020; 14684690 Phenotypes for gene: IGF1 were set to INSULIN-LIKE GROWTH FACTOR I DEFICIENCY 608747 |
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| DDG2P v0.1 | IGBP1 |
Rebecca Foulger gene: IGBP1 was added gene: IGBP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGBP1 were set to AGENESIS OF THE CORPUS CALLOSUM WITH MENTAL RETARDATION-OCULAR COLOBOMA-MICROGNATHIA 300472 Mode of pathogenicity for gene: IGBP1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IFT80 |
Rebecca Foulger gene: IFT80 was added gene: IFT80 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT80 were set to 17468754 Phenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2 611263 Mode of pathogenicity for gene: IFT80 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IFT43 |
Rebecca Foulger gene: IFT43 was added gene: IFT43 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT43 were set to 21378380 Phenotypes for gene: IFT43 were set to CRANIOECTODERMAL DYSPLASIA TYPE 3 614099 Mode of pathogenicity for gene: IFT43 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IFT172 | Rebecca Foulger Added phenotypes JEUNE SYNDROME for gene: IFT172 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IFT172 |
Rebecca Foulger gene: IFT172 was added gene: IFT172 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT172 were set to 24140113 Phenotypes for gene: IFT172 were set to MAINZER-SALDINO SYNDROME 266920 |
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| DDG2P v0.1 | IFT140 |
Rebecca Foulger gene: IFT140 was added gene: IFT140 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT140 were set to 22503633 Phenotypes for gene: IFT140 were set to MAINZER-SALDINO SYNDROME 266920 |
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| DDG2P v0.1 | IFT122 |
Rebecca Foulger gene: IFT122 was added gene: IFT122 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT122 were set to 19760620; 17022080; 20493458 Phenotypes for gene: IFT122 were set to CRANIOECTODERMAL DYSPLASIA 218330 Mode of pathogenicity for gene: IFT122 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IFITM5 |
Rebecca Foulger gene: IFITM5 was added gene: IFITM5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFITM5 were set to 22863195; 22863190 Phenotypes for gene: IFITM5 were set to OSTEOGENESIS IMPERFECTA TYPE V 610967 Mode of pathogenicity for gene: IFITM5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IFIH1 |
Rebecca Foulger Added phenotypes SINGLETON-MERTEN SYNDROME 182250 for gene: IFIH1 Publications for gene IFIH1 were changed from 24995871 to 25620204 |
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| DDG2P v0.1 | IFIH1 |
Rebecca Foulger gene: IFIH1 was added gene: IFIH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFIH1 were set to 24995871 Phenotypes for gene: IFIH1 were set to AICARDI-GOUTIERES SYNDROME 7 615846 Mode of pathogenicity for gene: IFIH1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IDUA |
Rebecca Foulger Added phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H 607014 for gene: IDUA Publications for gene IDUA were changed from 10735634; 10466419; 8664897; 7550232; 9391892 to 8328452; 6821579; 7951228; 8664897; 10735634 |
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| DDG2P v0.1 | IDUA |
Rebecca Foulger Added phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H/S 607015 for gene: IDUA Publications for gene IDUA were changed from 7550232; 4221470 to 10735634; 10466419; 8664897; 7550232; 9391892 |
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| DDG2P v0.1 | IDUA |
Rebecca Foulger gene: IDUA was added gene: IDUA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDUA were set to 7550232; 4221470 Phenotypes for gene: IDUA were set to MUCOPOLYSACCHARIDOSIS TYPE 1S 607016 |
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| DDG2P v0.1 | IDS |
Rebecca Foulger gene: IDS was added gene: IDS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IDS were set to 1639384; 1303211; 7581397; 1355630; 1550586; 12794697; 1284597; 8940265; 8364592 Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2 309900 |
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| DDG2P v0.1 | IARS2 |
Rebecca Foulger gene: IARS2 was added gene: IARS2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS2 were set to 25130867 Phenotypes for gene: IARS2 were set to CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 616007 |
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| DDG2P v0.1 | IARS |
Rebecca Foulger gene: IARS was added gene: IARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS were set to 27426735 Phenotypes for gene: IARS were set to Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy |
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| DDG2P v0.1 | HYLS1 |
Rebecca Foulger gene: HYLS1 was added gene: HYLS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYLS1 were set to 15843405 Phenotypes for gene: HYLS1 were set to HYDROLETHALUS SYNDROME TYPE 1 236680 Mode of pathogenicity for gene: HYLS1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HYDIN |
Rebecca Foulger gene: HYDIN was added gene: HYDIN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYDIN were set to 14985390; 23022101 Phenotypes for gene: HYDIN were set to CILIARY DYSKINESIA, PRIMARY, 5 608647 |
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| DDG2P v0.1 | HYAL1 |
Rebecca Foulger gene: HYAL1 was added gene: HYAL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL1 were set to 8793927 Phenotypes for gene: HYAL1 were set to MUCOPOLYSACCHARIDOSIS TYPE 9 601492 |
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| DDG2P v0.1 | HUWE1 |
Rebecca Foulger gene: HUWE1 was added gene: HUWE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HUWE1 were set to 7943042; 18252223 Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE 300706 Mode of pathogenicity for gene: HUWE1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HTRA2 |
Rebecca Foulger gene: HTRA2 was added gene: HTRA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to 27696117 Phenotypes for gene: HTRA2 were set to Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria |
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| DDG2P v0.1 | HSPG2 |
Rebecca Foulger Added phenotypes DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE 224410 for gene: HSPG2 Publications for gene HSPG2 were changed from 11101850; 11941538 to 11279527 |
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| DDG2P v0.1 | HSPG2 |
Rebecca Foulger gene: HSPG2 was added gene: HSPG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPG2 were set to 11101850; 11941538 Phenotypes for gene: HSPG2 were set to SCHWARTZ-JAMPEL SYNDROME 255800 |
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| DDG2P v0.1 | HSPD1 |
Rebecca Foulger gene: HSPD1 was added gene: HSPD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSPD1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 4 612233 |
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| DDG2P v0.1 | HSF4 | Rebecca Foulger Added phenotypes CATARACT ZONULAR HSF4-RELATED 116800 for gene: HSF4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HSF4 |
Rebecca Foulger gene: HSF4 was added gene: HSF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HSF4 were set to 12089525 Phenotypes for gene: HSF4 were set to CATARACT MARNER TYPE 116800 Mode of pathogenicity for gene: HSF4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HSD3B7 |
Rebecca Foulger gene: HSD3B7 was added gene: HSD3B7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B7 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 607765 |
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| DDG2P v0.1 | HSD17B4 |
Rebecca Foulger Added phenotypes D-BIFUNCTIONAL PROTEIN DEFICIENCY 261515 for gene: HSD17B4 Publications for gene HSD17B4 were changed from 4061497 to 9482850; 9345094; 11992265; 11743515; 10400999; 2921319 |
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| DDG2P v0.1 | HSD17B4 |
Rebecca Foulger gene: HSD17B4 was added gene: HSD17B4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD17B4 were set to 4061497 Phenotypes for gene: HSD17B4 were set to PERRAULT SYNDROME |
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| DDG2P v0.1 | HSD17B10 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 300220 for gene: HSD17B10 Publications for gene HSD17B10 were changed from 16148061; 12555940; 12696021 to 10521307 |
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| DDG2P v0.1 | HSD17B10 |
Rebecca Foulger gene: HSD17B10 was added gene: HSD17B10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HSD17B10 were set to 16148061; 12555940; 12696021 Phenotypes for gene: HSD17B10 were set to 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY 300438 |
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| DDG2P v0.1 | HRAS | Rebecca Foulger Added phenotypes CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES 218040 for gene: HRAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HRAS |
Rebecca Foulger gene: HRAS was added gene: HRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HRAS were set to 17468812; 18247425; 16835863; 17412879; 16443854; 17056636; 18039947; 17054105; 19995790; 16170316 Phenotypes for gene: HRAS were set to COSTELLO SYNDROME 218040 Mode of pathogenicity for gene: HRAS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HR |
Rebecca Foulger Added phenotypes ATRICHIA WITH PAPULAR LESIONS 209500 for gene: HR Publications for gene HR were changed from 19897589; 10777357; 17680008 to 9856480; 10469319; 10205263; 12271294; 10051399 |
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| DDG2P v0.1 | HR |
Rebecca Foulger gene: HR was added gene: HR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HR were set to 19897589; 10777357; 17680008 Phenotypes for gene: HR were set to ALOPECIA UNIVERSALIS 146550 |
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| DDG2P v0.1 | HPSE2 |
Rebecca Foulger gene: HPSE2 was added gene: HPSE2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPSE2 were set to 11446407; 19669792; 20560210; 19839856 Phenotypes for gene: HPSE2 were set to UROFACIAL SYNDROME 236730 |
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| DDG2P v0.1 | HPS1 |
Rebecca Foulger gene: HPS1 was added gene: HPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS1 were set to 9705234; 8896559; 10971344; 8274781; 9497254 Phenotypes for gene: HPS1 were set to HERMANSKY-PUDLAK SYNDROME 203300 |
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| DDG2P v0.1 | HPRT1 | Rebecca Foulger Added phenotypes LESCH-NYHAN SYNDROME 300322 for gene: HPRT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HPRT1 |
Rebecca Foulger gene: HPRT1 was added gene: HPRT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HPRT1 were set to GOUT HPRT-RELATED 300323 |
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| DDG2P v0.1 | HPGD |
Rebecca Foulger gene: HPGD was added gene: HPGD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPGD were set to CRANIOOSTEOARTHROPATHY 259100 |
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| DDG2P v0.1 | HPD |
Rebecca Foulger Added phenotypes TYROSINEMIA TYPE 3 276710 for gene: HPD Publications for gene HPD were changed from to 10942115 |
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| DDG2P v0.1 | HPD |
Rebecca Foulger gene: HPD was added gene: HPD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HPD were set to HAWKINSINURIA 140350 |
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| DDG2P v0.1 | HOXD13 |
Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE D 113200 for gene: HOXD13 Publications for gene HOXD13 were changed from 17236141 to 12649808 |
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| DDG2P v0.1 | HOXD13 | Rebecca Foulger Added phenotypes BRACHYDACTYLY-SYNDACTYLY SYNDROME 610713 for gene: HOXD13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HOXD13 | Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE E 113300 for gene: HOXD13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HOXD13 |
Rebecca Foulger Added phenotypes SYNDACTYLY TYPE 5 186300 for gene: HOXD13 Publications for gene HOXD13 were changed from 19060004; 9758628; 12900906; 8817328; 12414828 to 17236141 |
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| DDG2P v0.1 | HOXD13 |
Rebecca Foulger Added phenotypes SYNPOLYDACTYLY 1 186000 for gene: HOXD13 Publications for gene HOXD13 were changed from 19006232 to 19060004; 9758628; 12900906; 8817328; 12414828 |
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| DDG2P v0.1 | HOXD13 |
Rebecca Foulger gene: HOXD13 was added gene: HOXD13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HOXD13 were set to 19006232 Phenotypes for gene: HOXD13 were set to VACTERL ASSOCIATION 192350 Mode of pathogenicity for gene: HOXD13 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HOXC13 |
Rebecca Foulger gene: HOXC13 was added gene: HOXC13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOXC13 were set to 23315978; 23063621 Phenotypes for gene: HOXC13 were set to PURE HAIR AND NAIL ECTODERMAL DYSPLASIA 614931 |
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| DDG2P v0.1 | HOXB1 |
Rebecca Foulger gene: HOXB1 was added gene: HOXB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HOXB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOXB1 were set to 22770981 Phenotypes for gene: HOXB1 were set to FACIAL PARESIS, HEREDITARY CONGENITAL, 3 614744 Mode of pathogenicity for gene: HOXB1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HOXA13 |
Rebecca Foulger gene: HOXA13 was added gene: HOXA13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HOXA13 were set to 10839976 Phenotypes for gene: HOXA13 were set to HAND-FOOT-GENITAL SYNDROME 140000 |
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| DDG2P v0.1 | HOXA11 |
Rebecca Foulger gene: HOXA11 was added gene: HOXA11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HOXA11 were set to 26581901 Phenotypes for gene: HOXA11 were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia |
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| DDG2P v0.1 | HOXA1 | Rebecca Foulger Added phenotypes ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME 601536 for gene: HOXA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HOXA1 |
Rebecca Foulger gene: HOXA1 was added gene: HOXA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOXA1 were set to 18412118; 16155570 Phenotypes for gene: HOXA1 were set to BOSLEY-SALIH-ALORAINY SYNDROME 601536 |
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| DDG2P v0.1 | HNRNPU |
Rebecca Foulger gene: HNRNPU was added gene: HNRNPU was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HNRNPU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPU were set to 23934111 Phenotypes for gene: HNRNPU were set to EPILEPTIC ENCEPHALOPATHY |
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| DDG2P v0.1 | HNRNPH2 |
Rebecca Foulger gene: HNRNPH2 was added gene: HNRNPH2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HNRNPH2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HNRNPH2 were set to 27545675 Phenotypes for gene: HNRNPH2 were set to Neurodevelopmental Disorder in Females Mode of pathogenicity for gene: HNRNPH2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HNF4A |
Rebecca Foulger Added phenotypes ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY 315353 for gene: HNF4A Publications for gene HNF4A were changed from 8945471 to 24285859 |
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| DDG2P v0.1 | HNF4A |
Rebecca Foulger gene: HNF4A was added gene: HNF4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNF4A were set to 8945471 Phenotypes for gene: HNF4A were set to HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 125850 |
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| DDG2P v0.1 | HNF1B |
Rebecca Foulger gene: HNF1B was added gene: HNF1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNF1B were set to 9398836; 11085914; 10484768; 15068978; 17440011; 11562418; 11317673; 10720943; 12675839; 15181075 Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME 137920 |
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| DDG2P v0.1 | HMX1 |
Rebecca Foulger gene: HMX1 was added gene: HMX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMX1 were set to 18423520 Phenotypes for gene: HMX1 were set to OCULOAURICULAR SYNDROME 612109 |
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| DDG2P v0.1 | HMGCS2 |
Rebecca Foulger gene: HMGCS2 was added gene: HMGCS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCS2 were set to 11479731; 9727719; 12647205; 11228257; 9337379 Phenotypes for gene: HMGCS2 were set to 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY 605911 Mode of pathogenicity for gene: HMGCS2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HMGCL |
Rebecca Foulger gene: HMGCL was added gene: HMGCL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCL were set to 9463337; 8617516; 11129331 Phenotypes for gene: HMGCL were set to 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY 246450 |
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| DDG2P v0.1 | HMGB3 |
Rebecca Foulger gene: HMGB3 was added gene: HMGB3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HMGB3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HMGB3 were set to 24993872 Phenotypes for gene: HMGB3 were set to Colobomatous microphthalmia, microcephaly, intellectual disability, and short stature |
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| DDG2P v0.1 | HLCS |
Rebecca Foulger gene: HLCS was added gene: HLCS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HLCS were set to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 609018 |
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| DDG2P v0.1 | HIVEP2 |
Rebecca Foulger gene: HIVEP2 was added gene: HIVEP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HIVEP2 were set to 26153216; 27003583 Phenotypes for gene: HIVEP2 were set to HIVEP2 associated syndromic developmental delay with intellectual disability |
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| DDG2P v0.1 | HIST3H3 |
Rebecca Foulger gene: HIST3H3 was added gene: HIST3H3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HIST3H3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIST3H3 were set to 21937992 Phenotypes for gene: HIST3H3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: HIST3H3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HIST1H4J |
Rebecca Foulger gene: HIST1H4J was added gene: HIST1H4J was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HIST1H4J was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HIST1H4J were set to Intellectual disability with facial dysmorphism Mode of pathogenicity for gene: HIST1H4J was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HIST1H4C |
Rebecca Foulger gene: HIST1H4C was added gene: HIST1H4C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HIST1H4C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HIST1H4C were set to 100000; 28920961 Phenotypes for gene: HIST1H4C were set to HIST1H4C Mode of pathogenicity for gene: HIST1H4C was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HIST1H4B |
Rebecca Foulger gene: HIST1H4B was added gene: HIST1H4B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HIST1H4B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIST1H4B were set to 21937992 Phenotypes for gene: HIST1H4B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | HIST1H1E |
Rebecca Foulger gene: HIST1H1E was added gene: HIST1H1E was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HIST1H1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HIST1H1E were set to 28475857 Phenotypes for gene: HIST1H1E were set to Childhood overgrowth |
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| DDG2P v0.1 | HINT1 |
Rebecca Foulger gene: HINT1 was added gene: HINT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HINT1 were set to 22961002 Phenotypes for gene: HINT1 were set to NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE 137200 |
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| DDG2P v0.1 | HIBCH |
Rebecca Foulger gene: HIBCH was added gene: HIBCH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBCH were set to 7122152 Phenotypes for gene: HIBCH were set to HIBCH DEFICIENCY 250620 |
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| DDG2P v0.1 | HGSNAT |
Rebecca Foulger gene: HGSNAT was added gene: HGSNAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGSNAT were set to 18024218; 18518886; 16960811; 20825431; 17033958 Phenotypes for gene: HGSNAT were set to MUCOPOLYSACCHARIDOSIS TYPE 3C 252930 |
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| DDG2P v0.1 | HEXB |
Rebecca Foulger gene: HEXB was added gene: HEXB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXB were set to 571983; 9888387; 8045559; 2921040; 3014997; 2973515; 18758829; 7633435; 10724; 1531140 Phenotypes for gene: HEXB were set to GM2-GANGLIOSIDOSIS TYPE 2 268800 |
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| DDG2P v0.1 | HEXA |
Rebecca Foulger gene: HEXA was added gene: HEXA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXA were set to 1302612; 21937992; 1301958; 2934978; 2954459; 3362213; 9401004; 9603435; 1833974; 1825014; 15108204; 3754980; 1322637; 1301190; 2976595; 6959123; 1384323; 2961848; 9272736; 1483696; 2848800; 1837283; 2522679; 1827945; 1532289; 2140574; 14648242; 8757036; 8490625 Phenotypes for gene: HEXA were set to GM2-GANGLIOSIDOSIS TYPE 1 272800 |
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| DDG2P v0.1 | HESX1 | Rebecca Foulger Added phenotypes HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 319358 for gene: HESX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HESX1 |
Rebecca Foulger gene: HESX1 was added gene: HESX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HESX1 were set to SEPTOOPTIC DYSPLASIA 256657 |
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| DDG2P v0.1 | HECW2 |
Rebecca Foulger gene: HECW2 was added gene: HECW2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HECW2 were set to 27334371; 27389779 Phenotypes for gene: HECW2 were set to HECW2 Mode of pathogenicity for gene: HECW2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HDAC8 | Rebecca Foulger Added phenotypes WILSON-TURNER SYNDROME 309585 for gene: HDAC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HDAC8 | Rebecca Foulger Added phenotypes CORNELIA DE LANGE-LIKE SYNDROME for gene: HDAC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HDAC8 |
Rebecca Foulger gene: HDAC8 was added gene: HDAC8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HDAC8 were set to 22885700 Phenotypes for gene: HDAC8 were set to CORNELIA DE LANGE-LIKE SYNDROME |
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| DDG2P v0.1 | HDAC4 |
Rebecca Foulger gene: HDAC4 was added gene: HDAC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HDAC4 were set to 20691407 Phenotypes for gene: HDAC4 were set to BRACHYDACTYLY-MENTAL RETARDATION SYNDROME 600430 |
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| DDG2P v0.1 | HCN1 |
Rebecca Foulger gene: HCN1 was added gene: HCN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HCN1 were set to 24747641 Phenotypes for gene: HCN1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 615871 Mode of pathogenicity for gene: HCN1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HCFC1 |
Rebecca Foulger Added phenotypes COBALAMIN DISORDER for gene: HCFC1 Publications for gene HCFC1 were changed from 1870093; 23000143 to 24011988 |
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| DDG2P v0.1 | HCFC1 |
Rebecca Foulger gene: HCFC1 was added gene: HCFC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HCFC1 were set to 1870093; 23000143 Phenotypes for gene: HCFC1 were set to MENTAL RETARDATION, X-LINKED 3 309541 |
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| DDG2P v0.1 | HCCS |
Rebecca Foulger gene: HCCS was added gene: HCCS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HCCS were set to 17033964 Phenotypes for gene: HCCS were set to MICROPHTHALMIA SYNDROMIC TYPE 7 309801 |
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| DDG2P v0.1 | HAX1 |
Rebecca Foulger gene: HAX1 was added gene: HAX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAX1 were set to 18337561; 19036076; 18611981; 17187068 Phenotypes for gene: HAX1 were set to NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE 610738 |
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| DDG2P v0.1 | HARS |
Rebecca Foulger gene: HARS was added gene: HARS was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HARS were set to 22279524 Phenotypes for gene: HARS were set to USHER SYNDROME 614504 Mode of pathogenicity for gene: HARS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HADHA |
Rebecca Foulger gene: HADHA was added gene: HADHA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHA were set to 7811722 Phenotypes for gene: HADHA were set to LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY 609016 |
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| DDG2P v0.1 | HADH |
Rebecca Foulger gene: HADH was added gene: HADH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADH were set to 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY 231530 |
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| DDG2P v0.1 | HACE1 |
Rebecca Foulger gene: HACE1 was added gene: HACE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HACE1 were set to 26424145; 26437029 Phenotypes for gene: HACE1 were set to HACE1 related disorder |
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| DDG2P v0.1 | H3F3A |
Rebecca Foulger gene: H3F3A was added gene: H3F3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: H3F3A were set to Craniofacial with neurodevelopment disorders Mode of pathogenicity for gene: H3F3A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GZF1 |
Rebecca Foulger gene: GZF1 was added gene: GZF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GZF1 were set to 28475863 Phenotypes for gene: GZF1 were set to LARSEN SYNDROME |
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| DDG2P v0.1 | GUSB |
Rebecca Foulger gene: GUSB was added gene: GUSB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUSB were set to 12522561; 1702266; 9490302; 6811712; 7633414; 1833732; 7573038; 4265197 Phenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7 253220 |
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| DDG2P v0.1 | GUCY2C |
Rebecca Foulger Added phenotypes FAMILIAL DIARRHEA DIARRHEA 6 614616 for gene: GUCY2C Publications for gene GUCY2C were changed from to 22436048 |
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| DDG2P v0.1 | GUCY2C |
Rebecca Foulger gene: GUCY2C was added gene: GUCY2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GUCY2C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GUCY2C were set to MECONIUM ILEUS |
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| DDG2P v0.1 | GTPBP3 |
Rebecca Foulger gene: GTPBP3 was added gene: GTPBP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP3 were set to 25434004 Phenotypes for gene: GTPBP3 were set to MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY |
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| DDG2P v0.1 | GTF2H5 |
Rebecca Foulger gene: GTF2H5 was added gene: GTF2H5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2H5 were set to TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 |
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| DDG2P v0.1 | GTF2E2 |
Rebecca Foulger gene: GTF2E2 was added gene: GTF2E2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2E2 were set to 26996949 Phenotypes for gene: GTF2E2 were set to DNA Repair-Proficient Trichothiodystrophy Mode of pathogenicity for gene: GTF2E2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GSPT2 |
Rebecca Foulger gene: GSPT2 was added gene: GSPT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GSPT2 were set to XL INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | GRM6 |
Rebecca Foulger gene: GRM6 was added gene: GRM6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRM6 were set to 15781871; 16249515; 17405131 Phenotypes for gene: GRM6 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 257270 |
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| DDG2P v0.1 | GRM1 |
Rebecca Foulger gene: GRM1 was added gene: GRM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRM1 were set to 22901947 Phenotypes for gene: GRM1 were set to CONGENITAL CEREBELLAR ATAXIA 614831 |
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| DDG2P v0.1 | GRIN2D |
Rebecca Foulger gene: GRIN2D was added gene: GRIN2D was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN2D were set to 27616483 Phenotypes for gene: GRIN2D were set to Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers Mode of pathogenicity for gene: GRIN2D was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GRIN2B |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: GRIN2B Publications for gene GRIN2B were changed from 20890276; 23160955; 23033978 to 23934111 |
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| DDG2P v0.1 | GRIN2B |
Rebecca Foulger Added phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 613970 for gene: GRIN2B Publications for gene GRIN2B were changed from 23160955 to 20890276; 23160955; 23033978 |
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| DDG2P v0.1 | GRIN2B |
Rebecca Foulger gene: GRIN2B was added gene: GRIN2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN2B were set to 23160955 Phenotypes for gene: GRIN2B were set to AUTISM 209850 |
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| Intellectual disability v2.536 | ATP6V1A | Louise Daugherty commented on gene: ATP6V1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GRIN2A |
Rebecca Foulger Added phenotypes LANDAU-KLEFFNER SYNDROME 245570 for gene: GRIN2A Publications for gene GRIN2A were changed from 20890276; 23033978 to 23933818 |
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| DDG2P v0.1 | GRIN2A |
Rebecca Foulger gene: GRIN2A was added gene: GRIN2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN2A were set to 20890276; 23033978 Phenotypes for gene: GRIN2A were set to EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS 613971 |
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| DDG2P v0.1 | GRIN1 |
Rebecca Foulger gene: GRIN1 was added gene: GRIN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN1 were set to 23934111; 27164704 Phenotypes for gene: GRIN1 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: GRIN1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GRIK2 |
Rebecca Foulger gene: GRIK2 was added gene: GRIK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRIK2 were set to 17847003 Phenotypes for gene: GRIK2 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 611092 |
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| DDG2P v0.1 | GRIA3 |
Rebecca Foulger gene: GRIA3 was added gene: GRIA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GRIA3 were set to 17989220 Phenotypes for gene: GRIA3 were set to MENTAL RETARDATION X-LINKED TYPE 94 300699 |
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| DDG2P v0.1 | GRHL3 |
Rebecca Foulger gene: GRHL3 was added gene: GRHL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRHL3 were set to 24360809 Phenotypes for gene: GRHL3 were set to VAN DER WOUDE SYNDROME 119300 |
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| DDG2P v0.1 | GRHL2 |
Rebecca Foulger gene: GRHL2 was added gene: GRHL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRHL2 were set to ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 616029 Mode of pathogenicity for gene: GRHL2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GPX4 |
Rebecca Foulger gene: GPX4 was added gene: GPX4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPX4 were set to 24706940 Phenotypes for gene: GPX4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE 250220 |
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| DDG2P v0.1 | GPSM2 |
Rebecca Foulger gene: GPSM2 was added gene: GPSM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPSM2 were set to 22578326 Phenotypes for gene: GPSM2 were set to CHUDLEY-MCCULLOUGH SYNDROME |
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| DDG2P v0.1 | GPC6 |
Rebecca Foulger gene: GPC6 was added gene: GPC6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPC6 were set to 19481194 Phenotypes for gene: GPC6 were set to OMODYSPLASIA TYPE 1 (OMOD1) [ 258315 |
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| DDG2P v0.1 | GPC3 |
Rebecca Foulger gene: GPC3 was added gene: GPC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GPC3 were set to 16158429; 10814714; 18203194; 8589713; 9950367; 17850639 Phenotypes for gene: GPC3 were set to SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 312870 |
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| DDG2P v0.1 | GPAA1 |
Rebecca Foulger gene: GPAA1 was added gene: GPAA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPAA1 were set to 29100095 Phenotypes for gene: GPAA1 were set to Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia |
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| DDG2P v0.1 | GORAB |
Rebecca Foulger gene: GORAB was added gene: GORAB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GORAB were set to 18997784 Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum |
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| DDG2P v0.1 | GON4L |
Rebecca Foulger gene: GON4L was added gene: GON4L was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GON4L were set to 21937992 Phenotypes for gene: GON4L were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | GNS |
Rebecca Foulger gene: GNS was added gene: GNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNS were set to 6450420; 17998446; 19650410; 3100754; 12624138 Phenotypes for gene: GNS were set to MUCOPOLYSACCHARIDOSIS TYPE 3D 252940 |
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| DDG2P v0.1 | GNPTG |
Rebecca Foulger gene: GNPTG was added gene: GNPTG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPTG were set to 20034096; 19659762; 10712439; 19370764 Phenotypes for gene: GNPTG were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C 252605 |
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| DDG2P v0.1 | GNPTAB |
Rebecca Foulger Added phenotypes MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A 252600 for gene: GNPTAB Publications for gene GNPTAB were changed from 16200072; 16465621; 16116615 to 16094673; 15633164; 16116615; 19197337 |
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| DDG2P v0.1 | GNPTAB |
Rebecca Foulger gene: GNPTAB was added gene: GNPTAB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPTAB were set to 16200072; 16465621; 16116615 Phenotypes for gene: GNPTAB were set to MUCOLIPIDOSIS TYPE II 252500 |
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| DDG2P v0.1 | GNPAT |
Rebecca Foulger gene: GNPAT was added gene: GNPAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPAT were set to 21990100; 9843043; 9536089; 1405476 Phenotypes for gene: GNPAT were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 222765 |
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| DDG2P v0.1 | GNB5 |
Rebecca Foulger gene: GNB5 was added gene: GNB5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNB5 were set to 27523599 Phenotypes for gene: GNB5 were set to Sinus Bradycardia and Cognitive Disability |
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| DDG2P v0.1 | GNB3 |
Rebecca Foulger gene: GNB3 was added gene: GNB3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GNB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNB3 were set to 27063057 Phenotypes for gene: GNB3 were set to GNB3 Autosomal-Recessive Congenital Stationary Night Blindness. |
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| DDG2P v0.1 | GNB1 |
Rebecca Foulger gene: GNB1 was added gene: GNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNB1 were set to 27108799; 30194818 Phenotypes for gene: GNB1 were set to Severe Neurodevelopmental Disability, Hypotonia, and Seizures Mode of pathogenicity for gene: GNB1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GNAS | Rebecca Foulger Added phenotypes GNAS HYPERFUNCTION 139320 for gene: GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GNAS |
Rebecca Foulger Added phenotypes ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580 for gene: GNAS Publications for gene GNAS were changed from 11029463; 15592469; 18182455 to 8072545; 8702665; 2122458; 11073544; 10487696; 17299070; 11095461; 1505964; 9328353 |
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| DDG2P v0.1 | GNAS | Rebecca Foulger Added phenotypes ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080 for gene: GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GNAS |
Rebecca Foulger gene: GNAS was added gene: GNAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAS were set to 11029463; 15592469; 18182455 Phenotypes for gene: GNAS were set to PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233 |
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| DDG2P v0.1 | GNAQ |
Rebecca Foulger gene: GNAQ was added gene: GNAQ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAQ were set to 27058448 Phenotypes for gene: GNAQ were set to Congenital Hemangioma Mode of pathogenicity for gene: GNAQ was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GNAO1 |
Rebecca Foulger gene: GNAO1 was added gene: GNAO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAO1 were set to 23993195 Phenotypes for gene: GNAO1 were set to EPILEPTIC ENCEPHALOPATHY |
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| DDG2P v0.1 | GNAI3 |
Rebecca Foulger gene: GNAI3 was added gene: GNAI3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNAI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAI3 were set to 11102934 Phenotypes for gene: GNAI3 were set to AURICULOCONDYLAR SYNDROME 602483 Mode of pathogenicity for gene: GNAI3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GNAI1 |
Rebecca Foulger gene: GNAI1 was added gene: GNAI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAI1 were set to GNAI1 syndrome |
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| DDG2P v0.1 | GNA14 |
Rebecca Foulger gene: GNA14 was added gene: GNA14 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNA14 were set to 27476652 Phenotypes for gene: GNA14 were set to Congenital vascular tumours Mode of pathogenicity for gene: GNA14 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GNA11 |
Rebecca Foulger gene: GNA11 was added gene: GNA11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNA11 were set to 27058448 Phenotypes for gene: GNA11 were set to Congenital Hemangioma Mode of pathogenicity for gene: GNA11 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GMPPB |
Rebecca Foulger gene: GMPPB was added gene: GMPPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPB were set to 23768512 Phenotypes for gene: GMPPB were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 615350 Mode of pathogenicity for gene: GMPPB was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GMPPA |
Rebecca Foulger gene: GMPPA was added gene: GMPPA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPA were set to 24035193 Phenotypes for gene: GMPPA were set to GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION |
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| DDG2P v0.1 | GMNN |
Rebecca Foulger gene: GMNN was added gene: GMNN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GMNN were set to 26637980 Phenotypes for gene: GMNN were set to Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome Mode of pathogenicity for gene: GMNN was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GM2A |
Rebecca Foulger gene: GM2A was added gene: GM2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GM2A were set to 8900233; 8244332; 10364519; 1915858 Phenotypes for gene: GM2A were set to GM2-GANGLIOSIDOSIS TYPE AB 272750 |
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| DDG2P v0.1 | GLUL |
Rebecca Foulger gene: GLUL was added gene: GLUL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLUL were set to 16267323; 21353613 Phenotypes for gene: GLUL were set to CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY 610015 Mode of pathogenicity for gene: GLUL was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GLUD1 |
Rebecca Foulger gene: GLUD1 was added gene: GLUD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GLUD1 were set to 10636977; 11214910; 9571255 Phenotypes for gene: GLUD1 were set to HYPERINSULINISM-HYPERAMMONEMIA SYNDROME 606762 Mode of pathogenicity for gene: GLUD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GLMN |
Rebecca Foulger gene: GLMN was added gene: GLMN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GLMN were set to 11175297; 11845407 Phenotypes for gene: GLMN were set to GLOMUVENOUS MALFORMATIONS 138000 |
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| DDG2P v0.1 | GLIS3 |
Rebecca Foulger gene: GLIS3 was added gene: GLIS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLIS3 were set to 12966531 Phenotypes for gene: GLIS3 were set to DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM 610199 |
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| DDG2P v0.1 | GLIS2 |
Rebecca Foulger gene: GLIS2 was added gene: GLIS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLIS2 were set to 17618285 Phenotypes for gene: GLIS2 were set to NEPHRONOPHTHISIS 7 611498 |
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| DDG2P v0.1 | GLI3 |
Rebecca Foulger Added phenotypes PALLISTER-HALL SYNDROME 146510 for gene: GLI3 Publications for gene GLI3 were changed from to 10945658; 9054938; 10441570 |
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| DDG2P v0.1 | GLI3 | Rebecca Foulger Added phenotypes POSTAXIAL POLYDACTYLY TYPE A 149847 for gene: GLI3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GLI3 | Rebecca Foulger Added phenotypes PREAXIAL POLYDACTYLY TYPE IV 269157 for gene: GLI3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GLI3 |
Rebecca Foulger gene: GLI3 was added gene: GLI3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI3 were set to GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 175700 |
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| DDG2P v0.1 | GLI2 |
Rebecca Foulger gene: GLI2 was added gene: GLI2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI2 were set to GLI2-RELATED HOLOPROSENCEPHALY 261768 |
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| DDG2P v0.1 | GLE1 |
Rebecca Foulger gene: GLE1 was added gene: GLE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLE1 were set to 18204449 Phenotypes for gene: GLE1 were set to ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE 611890 Mode of pathogenicity for gene: GLE1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GLDN |
Rebecca Foulger gene: GLDN was added gene: GLDN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDN were set to 27616481 Phenotypes for gene: GLDN were set to Lethal arthroogryposis |
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| DDG2P v0.1 | GLDC |
Rebecca Foulger gene: GLDC was added gene: GLDC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDC were set to 445864; 15864413; 9600239; 10798358; 9621520; 11592811; 8005589; 15824356; 15236413; 1634607; 10873393; 15851735 Phenotypes for gene: GLDC were set to GLDC-RELATED GLYCINE ENCEPHALOPATHY 605899 |
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| DDG2P v0.1 | GLB1 |
Rebecca Foulger Added phenotypes GM1-GANGLIOSIDOSIS TYPE 3 230650 for gene: GLB1 Publications for gene GLB1 were changed from 1907800; 10737981; 1909089; 8199591; 10841810; 1928092; 1606711; 8213816 to 1907800; 1909089; 8198123 |
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| DDG2P v0.1 | GLB1 |
Rebecca Foulger Added phenotypes GM1-GANGLIOSIDOSIS TYPE 1 230500 for gene: GLB1 Publications for gene GLB1 were changed from 1909089; 12644936 to 1907800; 10737981; 1909089; 8199591; 10841810; 1928092; 1606711; 8213816 |
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| DDG2P v0.1 | GLB1 |
Rebecca Foulger Added phenotypes GM1-GANGLIOSIDOSIS TYPE 2 230600 for gene: GLB1 Publications for gene GLB1 were changed from 1928092; 11511921; 7586649; 10841810 to 1909089; 12644936 |
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| DDG2P v0.1 | GLB1 |
Rebecca Foulger gene: GLB1 was added gene: GLB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLB1 were set to 1928092; 11511921; 7586649; 10841810 Phenotypes for gene: GLB1 were set to MUCOPOLYSACCHARIDOSIS TYPE 4B 253010 |
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| DDG2P v0.1 | GK |
Rebecca Foulger gene: GK was added gene: GK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GK were set to GLYCEROL KINASE DEFICIENCY 307030 |
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| DDG2P v0.1 | GJC2 |
Rebecca Foulger Added phenotypes LEUKODYSTROPHY, HYPOMYELINATING, 2 608804 for gene: GJC2 Publications for gene GJC2 were changed from 19056803 to 16969684; 15192806; 8733901; 18094336 |
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| DDG2P v0.1 | GJC2 |
Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA, 44 613206 for gene: GJC2 Publications for gene GJC2 were changed from 20537300 to 19056803 |
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| DDG2P v0.1 | GJC2 |
Rebecca Foulger gene: GJC2 was added gene: GJC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJC2 were set to 20537300 Phenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC 613480 Mode of pathogenicity for gene: GJC2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GJB3 | Rebecca Foulger Added phenotypes DEAFNESS, AUTOSOMAL RECESSIVE for gene: GJB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GJB3 | Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 2B 612644 for gene: GJB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GJB3 |
Rebecca Foulger gene: GJB3 was added gene: GJB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJB3 were set to ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 133200 |
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| DDG2P v0.1 | GJB2 |
Rebecca Foulger Added phenotypes BART-PUMPHREY SYNDROME 149200 for gene: GJB2 Publications for gene GJB2 were changed from 12372058; 10633135; 17993581; 2956987 to 15952212; 15482471 |
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| DDG2P v0.1 | GJB2 | Rebecca Foulger Added phenotypes VOHWINKEL SYNDROME 124500 for gene: GJB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GJB2 | Rebecca Foulger Added phenotypes ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME 602540 for gene: GJB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GJB2 |
Rebecca Foulger Added phenotypes PALMOPLANTAR KERATODERMA WITH DEAFNESS 148350 for gene: GJB2 Publications for gene GJB2 were changed from 11556849; 15253766; 12121355; 8789457; 9471561; 9336442; 11313763; 10218527; 12239718; 9328482; 9139825; 10633133; 9819448; 10982182; 17660464 to 12372058; 10633135; 17993581; 2956987 |
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| DDG2P v0.1 | GJB2 |
Rebecca Foulger gene: GJB2 was added gene: GJB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJB2 were set to 11556849; 15253766; 12121355; 8789457; 9471561; 9336442; 11313763; 10218527; 12239718; 9328482; 9139825; 10633133; 9819448; 10982182; 17660464 Phenotypes for gene: GJB2 were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A 220290 |
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| DDG2P v0.1 | GJA8 | Rebecca Foulger Added phenotypes CATARACT-MICROCORNEA SYNDROME 116150 for gene: GJA8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GJA8 |
Rebecca Foulger gene: GJA8 was added gene: GJA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJA8 were set to 16604058; 10480374; 18006672; 11846744; 9497259; 14627691 Phenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1 116200 Mode of pathogenicity for gene: GJA8 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GJA3 |
Rebecca Foulger gene: GJA3 was added gene: GJA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJA3 were set to 10205266; 22550389; 21681855; 22876138; 15448617; 10746562; 22312188 Phenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 601885 Mode of pathogenicity for gene: GJA3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GJA1 |
Rebecca Foulger Added phenotypes AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA 164200 for gene: GJA1 Publications for gene GJA1 were changed from 16816024; 12457340 to 12457340; 4209752; 7815444; 15108203; 2309863; 16709485; 15551259; 17256797; 21670345 |
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| DDG2P v0.1 | GJA1 |
Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA 257850 for gene: GJA1 Publications for gene GJA1 were changed from 2157843 to 16816024; 12457340 |
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| DDG2P v0.1 | GJA1 |
Rebecca Foulger Added phenotypes SYNDACTYLY TYPE 3 186100 for gene: GJA1 Publications for gene GJA1 were changed from 11470490 to 2157843 |
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| DDG2P v0.1 | GJA1 |
Rebecca Foulger Added phenotypes HYPOPLASTIC LEFT HEART SYNDROME 241550 for gene: GJA1 Publications for gene GJA1 were changed from 14981729 to 11470490 |
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| DDG2P v0.1 | GJA1 |
Rebecca Foulger gene: GJA1 was added gene: GJA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJA1 were set to 14981729 Phenotypes for gene: GJA1 were set to HALLERMANN-STREIFF SYNDROME 234100 |
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| DDG2P v0.1 | GHR |
Rebecca Foulger gene: GHR was added gene: GHR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GHR were set to 9360529; 12679461; 15001620; 2813379; 17405847; 15536163; 2779634; 8488849; 11468686; 8626815; 9851797; 9661642; 2233903; 9467570 Phenotypes for gene: GHR were set to PITUITARY DWARFISM II 262500 |
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| DDG2P v0.1 | GFM1 |
Rebecca Foulger gene: GFM1 was added gene: GFM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFM1 were set to 17160893 Phenotypes for gene: GFM1 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 609060 |
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| DDG2P v0.1 | GFER |
Rebecca Foulger gene: GFER was added gene: GFER was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFER were set to 19409522 Phenotypes for gene: GFER were set to MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD 613076 |
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| DDG2P v0.1 | GFAP |
Rebecca Foulger gene: GFAP was added gene: GFAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GFAP were set to 14557587; 12975300; 11567214; 12034796; 11138011; 12447932 Phenotypes for gene: GFAP were set to ALEXANDER DISEASE 203450 Mode of pathogenicity for gene: GFAP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GDI1 | Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 48 300104 for gene: GDI1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDI1 |
Rebecca Foulger gene: GDI1 was added gene: GDI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GDI1 were set to MENTAL RETARDATION X-LINKED TYPE 41 300104 |
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| DDG2P v0.1 | GDF6 |
Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED TYPE 4 613094 for gene: GDF6 Publications for gene GDF6 were changed from 18425797; 19129173 to 19129173 |
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| DDG2P v0.1 | GDF6 |
Rebecca Foulger gene: GDF6 was added gene: GDF6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GDF6 were set to 18425797; 19129173 Phenotypes for gene: GDF6 were set to KLIPPEL-FEIL SYNDROME TYPE 1 118100 Mode of pathogenicity for gene: GDF6 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GDF5 | Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE A2 112600 for gene: GDF5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF5 |
Rebecca Foulger Added phenotypes ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE 201250 for gene: GDF5 Publications for gene GDF5 were changed from 16127465; 10080184; 11857750; 11846737; 16892395; 18283415 to 2703235 |
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| DDG2P v0.1 | GDF5 |
Rebecca Foulger Added phenotypes SYMPHALANGISM PROXIMAL SYNDROME 185800 for gene: GDF5 Publications for gene GDF5 were changed from 12121354; 16222676; 18629880 to 16127465; 10080184; 11857750; 11846737; 16892395; 18283415 |
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| DDG2P v0.1 | GDF5 | Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE A1 112500 for gene: GDF5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF5 | Rebecca Foulger Added phenotypes MULTIPLE SYNOSTOSES SYNDROME TYPE 2 610017 for gene: GDF5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF5 |
Rebecca Foulger Added phenotypes DU PAN SYNDROME 228900 for gene: GDF5 Publications for gene GDF5 were changed from 12900894; 9288098; 12124730 to 12121354; 16222676; 18629880 |
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| DDG2P v0.1 | GDF5 | Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE C 113100 for gene: GDF5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF5 |
Rebecca Foulger gene: GDF5 was added gene: GDF5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GDF5 were set to 12900894; 9288098; 12124730 Phenotypes for gene: GDF5 were set to ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE 200700 Mode of pathogenicity for gene: GDF5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GDF3 | Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 6 613703 for gene: GDF3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF3 | Rebecca Foulger Added phenotypes KLIPPEL-FEIL SYNDROME TYPE 3 613702 for gene: GDF3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF3 |
Rebecca Foulger gene: GDF3 was added gene: GDF3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GDF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GDF3 were set to MICROPHTHALMIA ISOLATED TYPE 7 613704 Mode of pathogenicity for gene: GDF3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GDF1 | Rebecca Foulger Added phenotypes CONOTRUNCAL HEART MALFORMATIONS 217095 for gene: GDF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF1 | Rebecca Foulger Added phenotypes TRANSPOSITION OF THE GREAT ARTERIES DEXTRO-LOOPED TYPE 3 613854 for gene: GDF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF1 |
Rebecca Foulger gene: GDF1 was added gene: GDF1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GDF1 were set to TETRALOGY OF FALLOT 187500 |
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| DDG2P v0.1 | GCSH |
Rebecca Foulger gene: GCSH was added gene: GCSH was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCSH were set to GLYCINE ENCEPHALOPATHY 605899 |
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| DDG2P v0.1 | GCH1 |
Rebecca Foulger Added phenotypes DYSTONIA TYPE 5 128230 for gene: GCH1 Publications for gene GCH1 were changed from 7730309; 12552057; 10987649; 9667588 to 11359069; 10732814; 11486899; 9576537; 9667588; 17111153; 10208576; 7874165 |
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| DDG2P v0.1 | GCH1 |
Rebecca Foulger gene: GCH1 was added gene: GCH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to 7730309; 12552057; 10987649; 9667588 Phenotypes for gene: GCH1 were set to GTP CYCLOHYDROLASE 1 DEFICIENCY 233910 Mode of pathogenicity for gene: GCH1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GCDH |
Rebecca Foulger gene: GCDH was added gene: GCDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCDH were set to 11174631; 8900227; 10699052; 7795610; 8900228 Phenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1 231670 Mode of pathogenicity for gene: GCDH was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GBA2 |
Rebecca Foulger gene: GBA2 was added gene: GBA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA2 were set to 23332917 Phenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY. |
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| DDG2P v0.1 | GBA | Rebecca Foulger Added phenotypes GAUCHER DISEASE 230800 for gene: GBA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GBA | Rebecca Foulger Added phenotypes GAUCHER DISEASE TYPE 3 231000 for gene: GBA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GBA | Rebecca Foulger Added phenotypes GAUCHER DISEASE PERINATAL LETHAL 608013 for gene: GBA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GBA | Rebecca Foulger Added phenotypes GAUCHER DISEASE TYPE 2 230900 for gene: GBA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GBA | Rebecca Foulger Added phenotypes GAUCHER DISEASE TYPE 3C 231005 for gene: GBA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GBA |
Rebecca Foulger gene: GBA was added gene: GBA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA were set to GAUCHER DISEASE TYPE 1 230800 |
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| DDG2P v0.1 | GATM |
Rebecca Foulger gene: GATM was added gene: GATM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATM were set to 10762163 Phenotypes for gene: GATM were set to ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718 |
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| DDG2P v0.1 | GATAD2B |
Rebecca Foulger gene: GATAD2B was added gene: GATAD2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATAD2B were set to 23644463 Phenotypes for gene: GATAD2B were set to NONSPECIFIC SEVERE ID |
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| DDG2P v0.1 | GATA6 |
Rebecca Foulger Added phenotypes ATRIAL SEPTAL DEFECT 9 614475 for gene: GATA6 Publications for gene GATA6 were changed from 22158542; 8071961 to 20631719 |
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| DDG2P v0.1 | GATA6 |
Rebecca Foulger Added phenotypes PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS 600001 for gene: GATA6 Publications for gene GATA6 were changed from 20581743 to 22158542; 8071961 |
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| DDG2P v0.1 | GATA6 |
Rebecca Foulger gene: GATA6 was added gene: GATA6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA6 were set to 20581743 Phenotypes for gene: GATA6 were set to ATRIOVENTRICULAR SEPTAL DEFECT 5 614474 |
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| DDG2P v0.1 | GATA4 |
Rebecca Foulger gene: GATA4 was added gene: GATA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA4 were set to 17643447; 20659440; 12845333; 15810002; 20347099; 18055909 Phenotypes for gene: GATA4 were set to ATRIAL SEPTAL DEFECT TYPE 2 607941 |
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| DDG2P v0.1 | GATA2 |
Rebecca Foulger gene: GATA2 was added gene: GATA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA2 were set to 21892158; 20803646 Phenotypes for gene: GATA2 were set to EMBERGER SYNDROME 614038 |
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| DDG2P v0.1 | GAS8 |
Rebecca Foulger gene: GAS8 was added gene: GAS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAS8 were set to 26387594 Phenotypes for gene: GAS8 were set to PRIMARY CILIARY DYSKINESIA |
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| DDG2P v0.1 | GAMT |
Rebecca Foulger gene: GAMT was added gene: GAMT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to 17101918; 15651030; 8651275 Phenotypes for gene: GAMT were set to GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY 612736 |
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| DDG2P v0.1 | GALT |
Rebecca Foulger gene: GALT was added gene: GALT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALT were set to 2011574; 10439960; 9012409; 9222760; 8869397; 1610789; 2233247; 1897530 Phenotypes for gene: GALT were set to GALACTOSEMIA 230400 |
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| DDG2P v0.1 | GALNS |
Rebecca Foulger gene: GALNS was added gene: GALNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A 253000 |
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| DDG2P v0.1 | GALK1 |
Rebecca Foulger gene: GALK1 was added gene: GALK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALK1 were set to 10790206; 7670469; 11231902; 10521295 Phenotypes for gene: GALK1 were set to GALACTOSEMIA II 230200 |
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| DDG2P v0.1 | GALE |
Rebecca Foulger gene: GALE was added gene: GALE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALE were set to 9538513; 9326324; 9973283 Phenotypes for gene: GALE were set to EPIMERASE-DEFICIENCY GALACTOSEMIA 230350 |
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| DDG2P v0.1 | GALC |
Rebecca Foulger gene: GALC was added gene: GALC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to 21070211; 8786069; 20886637; 8297359 Phenotypes for gene: GALC were set to KRABBE DISEASE 245200 |
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| DDG2P v0.1 | GAD1 |
Rebecca Foulger gene: GAD1 was added gene: GAD1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAD1 were set to 15571623 Phenotypes for gene: GAD1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1 603513 Mode of pathogenicity for gene: GAD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GABRG2 |
Rebecca Foulger Added phenotypes EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3 611277 for gene: GABRG2 Publications for gene GABRG2 were changed from to 11326274 |
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| DDG2P v0.1 | GABRG2 |
Rebecca Foulger gene: GABRG2 was added gene: GABRG2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GABRG2 were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 611277 |
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| DDG2P v0.1 | GABRB3 |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHIES for gene: GABRB3 Publications for gene GABRB3 were changed from 18514161 to 23934111; 27476654 |
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| DDG2P v0.1 | GABRB3 |
Rebecca Foulger gene: GABRB3 was added gene: GABRB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRB3 were set to 18514161 Phenotypes for gene: GABRB3 were set to CHILDHOOD ABSENCE EPILEPSY TYPE 5 612269 Mode of pathogenicity for gene: GABRB3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GABRB2 |
Rebecca Foulger gene: GABRB2 was added gene: GABRB2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRB2 were set to 29100083 Phenotypes for gene: GABRB2 were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: GABRB2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GABRA1 |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: GABRA1 Publications for gene GABRA1 were changed from 11992121 to 23934111 |
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| DDG2P v0.1 | GABRA1 |
Rebecca Foulger gene: GABRA1 was added gene: GABRA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRA1 were set to 11992121 Phenotypes for gene: GABRA1 were set to JUVENILE MYOCLONIC EPILEPSY 611136 |
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| DDG2P v0.1 | GABBR2 |
Rebecca Foulger gene: GABBR2 was added gene: GABBR2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABBR2 were set to 25262651 Phenotypes for gene: GABBR2 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: GABBR2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GAA |
Rebecca Foulger gene: GAA was added gene: GAA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAA were set to 1652892; 8834250; 7881425; 17616415; 15668445; 9529346; 7945303; 1898413; 7881422; 3865697 Phenotypes for gene: GAA were set to GLYCOGEN STORAGE DISEASE TYPE II 232300 |
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| DDG2P v0.1 | FZD6 |
Rebecca Foulger gene: FZD6 was added gene: FZD6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FZD6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FZD6 were set to 21665003 Phenotypes for gene: FZD6 were set to NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10 614157 |
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| DDG2P v0.1 | FZD5 |
Rebecca Foulger gene: FZD5 was added gene: FZD5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FZD5 were set to 26908622 Phenotypes for gene: FZD5 were set to Autosomal Dominant Coloboma Mode of pathogenicity for gene: FZD5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FYCO1 |
Rebecca Foulger gene: FYCO1 was added gene: FYCO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FYCO1 were set to 21636066; 11519376 Phenotypes for gene: FYCO1 were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 610019 |
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| DDG2P v0.1 | FUCA1 |
Rebecca Foulger gene: FUCA1 was added gene: FUCA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUCA1 were set to 1281988; 8401503; 2012122; 9762612; 2642067; 8097260 Phenotypes for gene: FUCA1 were set to FUCOSIDOSIS 230000 |
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| DDG2P v0.1 | FTSJ1 |
Rebecca Foulger gene: FTSJ1 was added gene: FTSJ1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FTSJ1 were set to 10398246; 8288232; 15162322 Phenotypes for gene: FTSJ1 were set to MENTAL RETARDATION X-LINKED TYPE 44 309549 |
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| DDG2P v0.1 | FTO |
Rebecca Foulger gene: FTO was added gene: FTO was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTO were set to 19559399 Phenotypes for gene: FTO were set to GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH 612938 Mode of pathogenicity for gene: FTO was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FTL |
Rebecca Foulger gene: FTL was added gene: FTL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FTL were set to 9414300; 10759702; 9292547; 7669675; 12200611; 9414313; 9226182; 7493028; 19176363; 11849230 Phenotypes for gene: FTL were set to HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME 600886 |
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| DDG2P v0.1 | FTCD |
Rebecca Foulger gene: FTCD was added gene: FTCD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTCD were set to 12815595 Phenotypes for gene: FTCD were set to GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 229100 |
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| DDG2P v0.1 | FRY |
Rebecca Foulger gene: FRY was added gene: FRY was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FRY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRY were set to 21937992 Phenotypes for gene: FRY were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | FRRS1L |
Rebecca Foulger gene: FRRS1L was added gene: FRRS1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRRS1L were set to 27239025; 27236917 Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy with continuous spike-and-wave during sleep |
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| DDG2P v0.1 | FRMPD4 |
Rebecca Foulger gene: FRMPD4 was added gene: FRMPD4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FRMPD4 were set to 25644381 Phenotypes for gene: FRMPD4 were set to Intellectual Disability |
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| DDG2P v0.1 | FRMD7 |
Rebecca Foulger gene: FRMD7 was added gene: FRMD7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FRMD7 were set to 18087240; 19072571; 21746984; 16240070; 17962394; 17013395 Phenotypes for gene: FRMD7 were set to NYSTAGMUS 1, CONGENITAL, X-LINKED 310700 |
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| DDG2P v0.1 | FREM2 |
Rebecca Foulger gene: FREM2 was added gene: FREM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FREM2 were set to FRASER SYNDROME 219000 |
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| DDG2P v0.1 | FREM1 |
Rebecca Foulger gene: FREM1 was added gene: FREM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FREM1 were set to 17352387; 11332973 Phenotypes for gene: FREM1 were set to MANITOBA OCULOTRICHOANAL SYNDROME 248450 |
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| DDG2P v0.1 | FRAS1 |
Rebecca Foulger gene: FRAS1 was added gene: FRAS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRAS1 were set to 12766769; 15838507; 17163535; 18203166; 16894541; 18671281 Phenotypes for gene: FRAS1 were set to FRASER SYNDROME 219000 |
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| DDG2P v0.1 | FOXRED1 |
Rebecca Foulger gene: FOXRED1 was added gene: FOXRED1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOXRED1 were set to 10944442; 20818383; 10080174; 23553477; 12616398; 11349233; 22499348; 10330338; 19185523; 20382551; 15824269; 16200211; 9463323; 11181577; 20858599; 15159508; 9837812; 17262856; 21203893 Phenotypes for gene: FOXRED1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 |
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| DDG2P v0.1 | FOXP3 |
Rebecca Foulger gene: FOXP3 was added gene: FOXP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FOXP3 were set to 11137993; 17635943; 11120765; 11137992; 14671208 Phenotypes for gene: FOXP3 were set to IPEX SYNDROME 304790 |
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| DDG2P v0.1 | FOXP2 |
Rebecca Foulger gene: FOXP2 was added gene: FOXP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP2 were set to 2332125; 15877281 Phenotypes for gene: FOXP2 were set to SPEECH-LANGUAGE DISORDER 1 602081 |
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| DDG2P v0.1 | FOXP1 |
Rebecca Foulger gene: FOXP1 was added gene: FOXP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP1 were set to 20950788 Phenotypes for gene: FOXP1 were set to MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 613670 |
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| DDG2P v0.1 | FOXN1 |
Rebecca Foulger gene: FOXN1 was added gene: FOXN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOXN1 were set to 8911612 Phenotypes for gene: FOXN1 were set to ALOPECIA AND T-CELL IMMUNODEFICIENCY 601705 |
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| DDG2P v0.1 | FOXL2 |
Rebecca Foulger gene: FOXL2 was added gene: FOXL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXL2 were set to 11468277; 21325395; 12400065; 12938087; 12567411; 17089161; 11175783; 12630957; 11776388; 12529855 Phenotypes for gene: FOXL2 were set to BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME 110100 |
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| DDG2P v0.1 | FOXG1 |
Rebecca Foulger gene: FOXG1 was added gene: FOXG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXG1 were set to 19578037; 21441262; 19564653; 18571142 Phenotypes for gene: FOXG1 were set to CONGENITAL VARIANT OF RETT SYNDROME 613454 |
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| DDG2P v0.1 | FOXF1 |
Rebecca Foulger gene: FOXF1 was added gene: FOXF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXF1 were set to ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS 265380 |
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| DDG2P v0.1 | FOXE3 |
Rebecca Foulger Added phenotypes ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250 for gene: FOXE3 Publications for gene FOXE3 were changed from 11159941 to 6801987; 11159941; 3550563 |
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| DDG2P v0.1 | FOXE3 |
Rebecca Foulger gene: FOXE3 was added gene: FOXE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXE3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FOXE3 were set to 11159941 Phenotypes for gene: FOXE3 were set to CONGENITAL PRIMARY APHAKIA 610256 |
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| DDG2P v0.1 | FOXE1 |
Rebecca Foulger gene: FOXE1 was added gene: FOXE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXE1 were set to BAMFORTH-LAZARUS SYNDROME 241850 Mode of pathogenicity for gene: FOXE1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FOXC2 | Rebecca Foulger Added phenotypes HEREDITARY LYMPHEDEMA II 241432 for gene: FOXC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FOXC2 |
Rebecca Foulger gene: FOXC2 was added gene: FOXC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXC2 were set to 12485195; 11499682; 14269895; 10417285; 11371511; 15523639; 12114478; 11078474 Phenotypes for gene: FOXC2 were set to LYMPHEDEMA-DISTICHIASIS SYNDROME 153400 |
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| DDG2P v0.1 | FOXC1 |
Rebecca Foulger Added phenotypes IRIDOGONIODYSGENESIS ANOMALY 601631 for gene: FOXC1 Publications for gene FOXC1 were changed from 11170889; 10713890; 18498376; 9792859; 17210863; 9620769; 9326342 to 11007653; 19793056 |
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| DDG2P v0.1 | FOXC1 | Rebecca Foulger Added phenotypes PETERS ANOMALY 604229 for gene: FOXC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FOXC1 |
Rebecca Foulger gene: FOXC1 was added gene: FOXC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXC1 were set to 11170889; 10713890; 18498376; 9792859; 17210863; 9620769; 9326342 Phenotypes for gene: FOXC1 were set to AXENFELD-RIEGER SYNDROME TYPE 3 602482 |
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| DDG2P v0.1 | FOLR1 |
Rebecca Foulger gene: FOLR1 was added gene: FOLR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOLR1 were set to 21937992; 19732866 Phenotypes for gene: FOLR1 were set to NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY 613068 |
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| DDG2P v0.1 | FN1 |
Rebecca Foulger gene: FN1 was added gene: FN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FN1 were set to 29100092 Phenotypes for gene: FN1 were set to Spondylometaphyseal Dysplasia with Corner Fractures Mode of pathogenicity for gene: FN1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FMR1 | Rebecca Foulger Added phenotypes PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 311360 for gene: FMR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FMR1 | Rebecca Foulger Added phenotypes FRAGILE X SYNDROME 300624 for gene: FMR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FMR1 |
Rebecca Foulger gene: FMR1 was added gene: FMR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FMR1 were set to FRAGILE X TREMOR/ATAXIA SYNDROME 300623 |
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| DDG2P v0.1 | FMN2 |
Rebecca Foulger gene: FMN2 was added gene: FMN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FMN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FMN2 were set to 25480035 Phenotypes for gene: FMN2 were set to NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY |
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| DDG2P v0.1 | FLVCR2 |
Rebecca Foulger gene: FLVCR2 was added gene: FLVCR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR2 were set to 25677735; 20518025; 19635601; 20206334 Phenotypes for gene: FLVCR2 were set to PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME 225790 |
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| DDG2P v0.1 | FLVCR1 |
Rebecca Foulger gene: FLVCR1 was added gene: FLVCR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR1 were set to 21070897; 9409377; 21267618 Phenotypes for gene: FLVCR1 were set to ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA 609033 Mode of pathogenicity for gene: FLVCR1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FLT4 |
Rebecca Foulger gene: FLT4 was added gene: FLT4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FLT4 were set to 12960217; 10835628; 16965327; 10856194; 19289394; 16924388 Phenotypes for gene: FLT4 were set to MILROY DISEASE 153100 Mode of pathogenicity for gene: FLT4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FLNB | Rebecca Foulger Added phenotypes ATELOSTEOGENESIS TYPE 1 108720 for gene: FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FLNB |
Rebecca Foulger Added phenotypes ATELOSTEOGENESIS TYPE 3 108721 for gene: FLNB Publications for gene FLNB were changed from 14991055; 16801345 to 14991055 |
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| DDG2P v0.1 | FLNB |
Rebecca Foulger Added phenotypes AUTOSOMAL DOMINANT LARSEN SYNDROME 150250 for gene: FLNB Publications for gene FLNB were changed from 18257094; 14991055; 18386804 to 14991055; 16801345 |
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| DDG2P v0.1 | FLNB | Rebecca Foulger Added phenotypes BOOMERANG DYSPLASIA 112310 for gene: FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FLNB |
Rebecca Foulger gene: FLNB was added gene: FLNB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FLNB were set to 18257094; 14991055; 18386804 Phenotypes for gene: FLNB were set to SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 272460 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes Childhood Interstitial Lung Disease for gene: FLNA Publications for gene FLNA were changed from 17632775 to 16299064; 20014127; 11532987; 11914408; 8290091; 9883725; 14988809 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes FG SYNDROME TYPE 2 300321 for gene: FLNA Publications for gene FLNA were changed from 12612583 to 17632775 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes FRONTOMETAPHYSEAL DYSPLASIA 305620 for gene: FLNA Publications for gene FLNA were changed from 12612583; 17431908 to 12612583 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes OTOPALATODIGITAL SYNDROME TYPE 2 304120 for gene: FLNA Publications for gene FLNA were changed from 23037936; 8644737 to 12612583; 17431908 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048 for gene: FLNA Publications for gene FLNA were changed from 12612583 to 23037936; 8644737 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes MELNICK-NEEDLES SYNDROME 309350 for gene: FLNA Publications for gene FLNA were changed from 10982965 to 12612583 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes TERMINAL OSSEOUS DYSPLASIA 300244 for gene: FLNA Publications for gene FLNA were changed from 23934111 to 10982965 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: FLNA Publications for gene FLNA were changed from 15654694; 15940695; 12612583; 16596676 to 23934111 |
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| DDG2P v0.1 | FLNA |
Rebecca Foulger gene: FLNA was added gene: FLNA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLNA was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: FLNA were set to 15654694; 15940695; 12612583; 16596676 Phenotypes for gene: FLNA were set to OTOPALATODIGITAL SYNDROME TYPE 1 311300 |
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| DDG2P v0.1 | FLG |
Rebecca Foulger gene: FLG was added gene: FLG was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FLG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLG were set to 16444271; 17291859 Phenotypes for gene: FLG were set to ICHTHYOSIS VULGARIS 146700 |
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| DDG2P v0.1 | FLAD1 |
Rebecca Foulger gene: FLAD1 was added gene: FLAD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLAD1 were set to 27259049 Phenotypes for gene: FLAD1 were set to Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. |
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| DDG2P v0.1 | FKTN |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4 253800 for gene: FKTN Publications for gene FKTN were changed from 17036286 to 10545611; 9690476; 14627679; 21228398; 12601708; 19179078; 17878207 |
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| DDG2P v0.1 | FKTN |
Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED TYPE 1X 611615 for gene: FKTN Publications for gene FKTN were changed from 19342235; 17044012 to 17036286 |
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| DDG2P v0.1 | FKTN |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4 611588 for gene: FKTN Publications for gene FKTN were changed from to 19342235; 17044012 |
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| DDG2P v0.1 | FKTN |
Rebecca Foulger gene: FKTN was added gene: FKTN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKTN were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 613152 |
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| DDG2P v0.1 | FKRP |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5 606612 for gene: FKRP Publications for gene FKRP were changed from 15121789 to 12654965; 17336067; 14647208; 11071142; 11592034; 14652796; 11053680 |
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| DDG2P v0.1 | FKRP |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5 613153 for gene: FKRP Publications for gene FKRP were changed from 11741828; 14523375; 12707439; 14647208 to 15121789 |
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| DDG2P v0.1 | FKRP |
Rebecca Foulger gene: FKRP was added gene: FKRP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to 11741828; 14523375; 12707439; 14647208 Phenotypes for gene: FKRP were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 607155 |
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| DDG2P v0.1 | FKBP14 |
Rebecca Foulger gene: FKBP14 was added gene: FKBP14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKBP14 were set to EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS |
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| DDG2P v0.1 | FIG4 |
Rebecca Foulger Added phenotypes CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME 216340 for gene: FIG4 Publications for gene FIG4 were changed from 17572665 to 2319578; 7496176; 23623387 |
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| DDG2P v0.1 | FIG4 |
Rebecca Foulger gene: FIG4 was added gene: FIG4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIG4 were set to 17572665 Phenotypes for gene: FIG4 were set to CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 611228 |
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| DDG2P v0.1 | FHL1 |
Rebecca Foulger gene: FHL1 was added gene: FHL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FHL1 were set to 19716112; 18179888; 19687455 Phenotypes for gene: FHL1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED 300696 |
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| DDG2P v0.1 | FH |
Rebecca Foulger gene: FH was added gene: FH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to FUMARASE DEFICIENCY 606812 |
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| DDG2P v0.1 | FGFR3 |
Rebecca Foulger Added phenotypes THANATOPHORIC DYSPLASIA TYPE 1 187600 for gene: FGFR3 Publications for gene FGFR3 were changed from 7670477; 16912704; 10215410; 9452043; 11055896; 8589686 to 7773297; 19449430; 8845844; 7647778 |
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| DDG2P v0.1 | FGFR3 |
Rebecca Foulger Added phenotypes HYPOCHONDROPLASIA 146000 for gene: FGFR3 Publications for gene FGFR3 were changed from 17033969 to 7670477; 16912704; 10215410; 9452043; 11055896; 8589686 |
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| DDG2P v0.1 | FGFR3 |
Rebecca Foulger Added phenotypes CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474 for gene: FGFR3 Publications for gene FGFR3 were changed from 7773297 to 17033969 |
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| DDG2P v0.1 | FGFR3 |
Rebecca Foulger Added phenotypes THANATOPHORIC DYSPLASIA TYPE 2 187601 for gene: FGFR3 Publications for gene FGFR3 were changed from 7758520; 16411219; 8078586; 16912704; 7913883 to 7773297 |
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| DDG2P v0.1 | FGFR3 |
Rebecca Foulger Added phenotypes ACHONDROPLASIA 100800 for gene: FGFR3 Publications for gene FGFR3 were changed from 7493034 to 7758520; 16411219; 8078586; 16912704; 7913883 |
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| DDG2P v0.1 | FGFR3 |
Rebecca Foulger Added phenotypes CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS 612247 for gene: FGFR3 Publications for gene FGFR3 were changed from to 7493034 |
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| DDG2P v0.1 | FGFR3 | Rebecca Foulger Added phenotypes MUENKE SYNDROME 602849 for gene: FGFR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FGFR3 |
Rebecca Foulger gene: FGFR3 was added gene: FGFR3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR3 were set to LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730 Mode of pathogenicity for gene: FGFR3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FGFR2 | Rebecca Foulger Added phenotypes ACROCEPHALOSYNDACTYLY TYPE V 101600 for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FGFR2 |
Rebecca Foulger Added phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME 123790 for gene: FGFR2 Publications for gene FGFR2 were changed from 7874170 to 19610084; 8696350 |
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| DDG2P v0.1 | FGFR2 | Rebecca Foulger Added phenotypes ANTLEY-BIXLER SYNDROME 207410 for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FGFR2 |
Rebecca Foulger Added phenotypes JACKSON-WEISS SYNDROME 123150 for gene: FGFR2 Publications for gene FGFR2 were changed from 9002682; 7719344; 9973282 to 7874170 |
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| DDG2P v0.1 | FGFR2 | Rebecca Foulger Added phenotypes FAMILIAL SCAPHOCEPHALY SYNDROME 609579 for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FGFR2 | Rebecca Foulger Added phenotypes LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730 for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FGFR2 |
Rebecca Foulger Added phenotypes APERT SYNDROME 101200 for gene: FGFR2 Publications for gene FGFR2 were changed from 17621648; 15523492; 7581378; 9152842; 7874170; 7607643; 8528214; 7987400; 7655462; 9677057; 22038757 to 9002682; 7719344; 9973282 |
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| DDG2P v0.1 | FGFR2 |
Rebecca Foulger gene: FGFR2 was added gene: FGFR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGFR2 were set to 17621648; 15523492; 7581378; 9152842; 7874170; 7607643; 8528214; 7987400; 7655462; 9677057; 22038757 Phenotypes for gene: FGFR2 were set to CROUZON SYNDROME 123500 Mode of pathogenicity for gene: FGFR2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FGFR1 |
Rebecca Foulger Added phenotypes Hartsfield syndrome for gene: FGFR1 Publications for gene FGFR1 were changed from 26942290 to 23812909 |
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| DDG2P v0.1 | FGFR1 |
Rebecca Foulger Added phenotypes Encephalocraniocutaneous lipomatosis for gene: FGFR1 Publications for gene FGFR1 were changed from 12627230 to 26942290 |
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| DDG2P v0.1 | FGFR1 |
Rebecca Foulger Added phenotypes IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110 for gene: FGFR1 Publications for gene FGFR1 were changed from 9586546; 9150725; 11807866; 8434615; 9002682; 10945669; 7874169; 8841188; 7719345; 10394936; 15523615 to 12627230 |
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| DDG2P v0.1 | FGFR1 |
Rebecca Foulger Added phenotypes PFEIFFER SYNDROME 101600 for gene: FGFR1 Publications for gene FGFR1 were changed from 16606836; 17235395; 12627230; 10690855; 16882753; 16418210; 23643382; 18596921; 17360555 to 9586546; 9150725; 11807866; 8434615; 9002682; 10945669; 7874169; 8841188; 7719345; 10394936; 15523615 |
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| DDG2P v0.1 | FGFR1 |
Rebecca Foulger Added phenotypes KALLMANN SYNDROME TYPE 2 147950 for gene: FGFR1 Publications for gene FGFR1 were changed from 7422392; 15625620 to 16606836; 17235395; 12627230; 10690855; 16882753; 16418210; 23643382; 18596921; 17360555 |
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| DDG2P v0.1 | FGFR1 |
Rebecca Foulger gene: FGFR1 was added gene: FGFR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGFR1 were set to 7422392; 15625620 Phenotypes for gene: FGFR1 were set to OSTEOGLOPHONIC DYSPLASIA 166250 |
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| DDG2P v0.1 | FGF9 |
Rebecca Foulger gene: FGF9 was added gene: FGF9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGF9 were set to 19589401 Phenotypes for gene: FGF9 were set to MULTIPLE SYNOSTOSES SYNDROME TYPE 3 612961 |
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| DDG2P v0.1 | FGF3 |
Rebecca Foulger gene: FGF3 was added gene: FGF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF3 were set to 18701883; 18435799; 17236138; 21480479 Phenotypes for gene: FGF3 were set to DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA 610706 |
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| DDG2P v0.1 | FGF12 |
Rebecca Foulger gene: FGF12 was added gene: FGF12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGF12 were set to 27830185; 27164707; 27872899 Phenotypes for gene: FGF12 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: FGF12 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FGF10 |
Rebecca Foulger gene: FGF10 was added gene: FGF10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGF10 were set to 16501574; 16630169 Phenotypes for gene: FGF10 were set to LADD SYNDROME 149730 |
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| DDG2P v0.1 | FGD1 |
Rebecca Foulger gene: FGD1 was added gene: FGD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FGD1 were set to 14560308; 20082460; 16353258; 11940089; 17152066; 11093277; 16688726; 15809997; 7954831; 10930571; 17847065 Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME 305400 |
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| DDG2P v0.1 | FEZF1 |
Rebecca Foulger gene: FEZF1 was added gene: FEZF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FEZF1 were set to 25192046 Phenotypes for gene: FEZF1 were set to HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA 616030 |
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| DDG2P v0.1 | FBXW4 |
Rebecca Foulger gene: FBXW4 was added gene: FBXW4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBXW4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FBXW4 were set to SPLIT-HAND/FOOT MALFORMATION TYPE 3 246560 Mode of pathogenicity for gene: FBXW4 was set to part of contiguous gene duplication |
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| DDG2P v0.1 | FBXO25 |
Rebecca Foulger gene: FBXO25 was added gene: FBXO25 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBXO25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FBXO25 were set to F-BOX ONLY PROTEIN 25 609098 Mode of pathogenicity for gene: FBXO25 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FBXO11 |
Rebecca Foulger gene: FBXO11 was added gene: FBXO11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO11 were set to 27620904; 30057029 Phenotypes for gene: FBXO11 were set to FBXO11 related intellectual disability |
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| DDG2P v0.1 | FBXL4 |
Rebecca Foulger gene: FBXL4 was added gene: FBXL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXL4 were set to 23993194 Phenotypes for gene: FBXL4 were set to FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE |
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| DDG2P v0.1 | FBP1 |
Rebecca Foulger gene: FBP1 was added gene: FBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBP1 were set to 12126934; 7763253 Phenotypes for gene: FBP1 were set to FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY 229700 |
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| DDG2P v0.1 | FBN2 |
Rebecca Foulger gene: FBN2 was added gene: FBN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBN2 were set to 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527 Phenotypes for gene: FBN2 were set to CONGENITAL CONTRACTURAL ARACHNODACTYLY 121050 Mode of pathogenicity for gene: FBN2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FBN1 |
Rebecca Foulger Added phenotypes MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE 604308 for gene: FBN1 Publications for gene FBN1 were changed from 8136837; 7802039; 22539873 to 8406497 |
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| DDG2P v0.1 | FBN1 | Rebecca Foulger Added phenotypes WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT 608328 for gene: FBN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FBN1 |
Rebecca Foulger Added phenotypes ISOLATED ECTOPIA LENTIS 129600 for gene: FBN1 Publications for gene FBN1 were changed from 23103230; 16333834; 8071963; 23023332 to 8136837; 7802039; 22539873 |
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| DDG2P v0.1 | FBN1 |
Rebecca Foulger Added phenotypes SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212 for gene: FBN1 Publications for gene FBN1 were changed from 17568394; 17366579; 16333834; 7611299; 10766875; 8136837; 1631074; 8428751; 11702223; 7762551; 8040326; 8281141; 15032979; 1301946; 1569206; 10441597; 11175294; 20979188; 8430317; 9101298; 9241263; 7911051; 9837823; 1852208; 8504310; 8101042; 21594993; 20082464; 15287423; 21594992; 18412115; 17492313; 8406497; 7633409 to 23103230; 16333834; 8071963; 23023332 |
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| DDG2P v0.1 | FBN1 | Rebecca Foulger Added phenotypes MARFAN SYNDROME 154700 for gene: FBN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FBN1 |
Rebecca Foulger gene: FBN1 was added gene: FBN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FBN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FBN1 were set to 17568394; 17366579; 16333834; 7611299; 10766875; 8136837; 1631074; 8428751; 11702223; 7762551; 8040326; 8281141; 15032979; 1301946; 1569206; 10441597; 11175294; 20979188; 8430317; 9101298; 9241263; 7911051; 9837823; 1852208; 8504310; 8101042; 21594993; 20082464; 15287423; 21594992; 18412115; 17492313; 8406497; 7633409 Phenotypes for gene: FBN1 were set to MARFAN SYNDROME 154700 |
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| DDG2P v0.1 | FBLN1 |
Rebecca Foulger gene: FBLN1 was added gene: FBLN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBLN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBLN1 were set to SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES 608180 Mode of pathogenicity for gene: FBLN1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FAT4 |
Rebecca Foulger gene: FAT4 was added gene: FAT4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT4 were set to 24056717 Phenotypes for gene: FAT4 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA |
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| DDG2P v0.1 | FASN |
Rebecca Foulger gene: FASN was added gene: FASN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FASN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASN were set to 21937992 Phenotypes for gene: FASN were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: FASN was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FAR1 |
Rebecca Foulger gene: FAR1 was added gene: FAR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAR1 were set to SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS |
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| DDG2P v0.1 | FANCM | Rebecca Foulger Added phenotypes FANCM-RELATED FANCONI ANEMIA 287713 for gene: FANCM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FANCM |
Rebecca Foulger gene: FANCM was added gene: FANCM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCM were set to FANCONI ANEMIA 229154 |
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| DDG2P v0.1 | FANCL | Rebecca Foulger Added phenotypes FANCONI ANEMIA 229154 for gene: FANCL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FANCL |
Rebecca Foulger gene: FANCL was added gene: FANCL was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCL were set to FANCL-RELATED FANCONI ANEMIA 234480 |
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| DDG2P v0.1 | FANCI | Rebecca Foulger Added phenotypes FANCONI ANEMIA 229154 for gene: FANCI | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FANCI |
Rebecca Foulger gene: FANCI was added gene: FANCI was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCI were set to FANCI-RELATED FANCONI ANEMIA 234476 |
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| DDG2P v0.1 | FANCG |
Rebecca Foulger gene: FANCG was added gene: FANCG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCG were set to 12552564; 10807541; 15657175; 9806548 Phenotypes for gene: FANCG were set to FANCONI ANEMIA, COMPLEMENTATION GROUP G 614082 |
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| DDG2P v0.1 | FANCF |
Rebecca Foulger gene: FANCF was added gene: FANCF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCF were set to 10615118; 9382107 Phenotypes for gene: FANCF were set to FANCONI ANEMIA, COMPLEMENTATION GROUP F 603467 |
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| DDG2P v0.1 | FANCE |
Rebecca Foulger gene: FANCE was added gene: FANCE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCE were set to 10205272; 11001585; 9382107 Phenotypes for gene: FANCE were set to FANCONI ANEMIA, COMPLEMENTATION GROUP E 600901 |
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| DDG2P v0.1 | FANCD2 |
Rebecca Foulger gene: FANCD2 was added gene: FANCD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCD2 were set to 11239453 Phenotypes for gene: FANCD2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP D2 227646 |
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| DDG2P v0.1 | FANCC |
Rebecca Foulger gene: FANCC was added gene: FANCC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCC were set to 20869034; 8348157; 10431244 Phenotypes for gene: FANCC were set to FANCONI ANEMIA, COMPLEMENTATION GROUP C 227645 |
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| DDG2P v0.1 | FANCB |
Rebecca Foulger gene: FANCB was added gene: FANCB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FANCB were set to FANCB-RELATED FANCONI ANEMIA 229139 |
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| DDG2P v0.1 | FANCA |
Rebecca Foulger gene: FANCA was added gene: FANCA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCA were set to 8896564; 10431244; 12447395; 11344308; 12827451; 15523645 Phenotypes for gene: FANCA were set to FANCONI ANEMIA, COMPLEMENTATION GROUP A 227650 |
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| DDG2P v0.1 | FAM58A |
Rebecca Foulger gene: FAM58A was added gene: FAM58A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM58A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FAM58A were set to 18297069; 8818947 Phenotypes for gene: FAM58A were set to STAR SYNDROME 300707 |
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| DDG2P v0.1 | FAM20C |
Rebecca Foulger gene: FAM20C was added gene: FAM20C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20C were set to 19250384; 20825432; 17924334 Phenotypes for gene: FAM20C were set to RAINE SYNDROME 259775 |
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| DDG2P v0.1 | FAM20A |
Rebecca Foulger gene: FAM20A was added gene: FAM20A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20A were set to 21549343 Phenotypes for gene: FAM20A were set to AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME 614253 |
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| DDG2P v0.1 | FAM161A |
Rebecca Foulger gene: FAM161A was added gene: FAM161A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM161A were set to RETINITIS PIGMENTOSA 28 606068 |
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| DDG2P v0.1 | FAM126A |
Rebecca Foulger gene: FAM126A was added gene: FAM126A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM126A were set to 16951682; 17928815 Phenotypes for gene: FAM126A were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 5 610532 |
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| DDG2P v0.1 | FAM111A |
Rebecca Foulger gene: FAM111A was added gene: FAM111A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FAM111A were set to 23684011 Phenotypes for gene: FAM111A were set to KENNY-CAFFEY SYNDROME 127000 Mode of pathogenicity for gene: FAM111A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FAH |
Rebecca Foulger gene: FAH was added gene: FAH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 7977370; 11196105; 8829657; 7757089; 1401056; 8364576; 8162054; 8318997 Phenotypes for gene: FAH were set to TYROSINEMIA TYPE 1 276700 |
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| DDG2P v0.1 | EZH2 |
Rebecca Foulger gene: EZH2 was added gene: EZH2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EZH2 were set to WEAVER SYNDROME 2 614421 Mode of pathogenicity for gene: EZH2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | EYA1 |
Rebecca Foulger Added phenotypes OTOFACIOCERVICAL SYNDROME 166780 for gene: EYA1 Publications for gene EYA1 were changed from 5365063; 9361030; 19206155; 10655545; 9020840 to 16441263 |
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| DDG2P v0.1 | EYA1 |
Rebecca Foulger gene: EYA1 was added gene: EYA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EYA1 were set to 5365063; 9361030; 19206155; 10655545; 9020840 Phenotypes for gene: EYA1 were set to BRANCHIOOTORENAL SYNDROME TYPE 1 113650 |
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| DDG2P v0.1 | EXT2 |
Rebecca Foulger gene: EXT2 was added gene: EXT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EXT2 were set to EXOSTOSES, MULTIPLE, TYPE 2 133701 |
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| DDG2P v0.1 | EXT1 | Rebecca Foulger Added phenotypes TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 150230 for gene: EXT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EXT1 |
Rebecca Foulger gene: EXT1 was added gene: EXT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EXT1 were set to 8981950; 9326317; 15253765; 7550340 Phenotypes for gene: EXT1 were set to HEREDITARY MULTIPLE EXOSTOSES TYPE 1 133700 |
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| DDG2P v0.1 | EXPH5 |
Rebecca Foulger gene: EXPH5 was added gene: EXPH5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EXPH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXPH5 were set to 23176819 Phenotypes for gene: EXPH5 were set to INHERITED SKIN FRAGILITY 615028 |
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| DDG2P v0.1 | EXOSC3 |
Rebecca Foulger gene: EXOSC3 was added gene: EXOSC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXOSC3 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596 Mode of pathogenicity for gene: EXOSC3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | EVC2 |
Rebecca Foulger Added phenotypes ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530 for gene: EVC2 Publications for gene EVC2 were changed from to 16404586 |
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| DDG2P v0.1 | EVC2 |
Rebecca Foulger gene: EVC2 was added gene: EVC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC2 were set to ELLIS-VAN CREVELD SYNDROME 225500 |
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| DDG2P v0.1 | EVC |
Rebecca Foulger Added phenotypes ELLIS-VAN CREVELD SYNDROME 225500 for gene: EVC Publications for gene EVC were changed from to 12468274; 7218275; 14217223; 7628126; 12571802; 10700184; 21815252 |
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| DDG2P v0.1 | EVC |
Rebecca Foulger gene: EVC was added gene: EVC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC were set to ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530 |
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| DDG2P v0.1 | ETHE1 |
Rebecca Foulger gene: ETHE1 was added gene: ETHE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETHE1 were set to 14732903; 20528888; 18593870 Phenotypes for gene: ETHE1 were set to ETHYLMALONIC ENCEPHALOPATHY 602473 |
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| DDG2P v0.1 | ETFDH |
Rebecca Foulger gene: ETFDH was added gene: ETFDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFDH were set to GLUTARIC ACIDURIA TYPE 2C 231680 |
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| DDG2P v0.1 | ETFB |
Rebecca Foulger gene: ETFB was added gene: ETFB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFB were set to GLUTARIC ACIDURIA TYPE 2B 231680 |
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| DDG2P v0.1 | ETFA |
Rebecca Foulger gene: ETFA was added gene: ETFA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFA were set to 7912128; 17412732; 12815589; 19249206; 1430199; 1882842 Phenotypes for gene: ETFA were set to GLUTARIC ACIDURIA TYPE 2A 231680 |
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| DDG2P v0.1 | ESCO2 |
Rebecca Foulger Added phenotypes ROBERTS SYNDROME 268300 for gene: ESCO2 Publications for gene ESCO2 were changed from 3740099 to 15821733; 495649 |
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| DDG2P v0.1 | ESCO2 |
Rebecca Foulger gene: ESCO2 was added gene: ESCO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESCO2 were set to 3740099 Phenotypes for gene: ESCO2 were set to SC PHOCOMELIA SYNDROME 269000 |
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| DDG2P v0.1 | ERMARD |
Rebecca Foulger gene: ERMARD was added gene: ERMARD was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ERMARD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ERMARD were set to 24056535 Phenotypes for gene: ERMARD were set to PERIVENTRICULAR HETEROTOPIA |
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| DDG2P v0.1 | ERLIN2 |
Rebecca Foulger gene: ERLIN2 was added gene: ERLIN2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ERLIN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERLIN2 were set to 21937992 Phenotypes for gene: ERLIN2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ERLIN2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ERF |
Rebecca Foulger Added phenotypes Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia for gene: ERF Publications for gene ERF were changed from 23354439 to 27738187 |
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| DDG2P v0.1 | ERF |
Rebecca Foulger gene: ERF was added gene: ERF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ERF were set to 23354439 Phenotypes for gene: ERF were set to COMPLEX CRANIOSYNOSTOSIS |
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| DDG2P v0.1 | ERCC8 |
Rebecca Foulger gene: ERCC8 was added gene: ERCC8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC8 were set to 7664335; 14661080; 15744458 Phenotypes for gene: ERCC8 were set to COCKAYNE SYNDROME TYPE A 216400 |
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| DDG2P v0.1 | ERCC6L2 |
Rebecca Foulger gene: ERCC6L2 was added gene: ERCC6L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6L2 were set to 24507776 Phenotypes for gene: ERCC6L2 were set to BONE MARROW FAILURE SYNDROME 2 615715 |
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| DDG2P v0.1 | ERCC6 |
Rebecca Foulger Added phenotypes UV-SENSITIVE SYNDROME 609413 for gene: ERCC6 Publications for gene ERCC6 were changed from 18628313; 10739753; 20456449 to 7264357 |
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| DDG2P v0.1 | ERCC6 |
Rebecca Foulger Added phenotypes CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1 214150 for gene: ERCC6 Publications for gene ERCC6 were changed from 10196384; 9443879; 18446857 to 18628313; 10739753; 20456449 |
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| DDG2P v0.1 | ERCC6 |
Rebecca Foulger Added phenotypes COCKAYNE SYNDROME TYPE B 133540 for gene: ERCC6 Publications for gene ERCC6 were changed from to 10196384; 9443879; 18446857 |
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| DDG2P v0.1 | ERCC6 |
Rebecca Foulger gene: ERCC6 was added gene: ERCC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to DE SANCTIS-CACCHIONE SYNDROME 278800 |
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| DDG2P v0.1 | ERCC5 |
Rebecca Foulger gene: ERCC5 was added gene: ERCC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC5 were set to 11219864; 23255472; 9096355; 12060391; 7951246; 8818951; 11841555; 11228268 Phenotypes for gene: ERCC5 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G 278780 |
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| DDG2P v0.1 | ERCC4 |
Rebecca Foulger Added phenotypes XERODERMA PIGMENTOSUM, GROUP F 278760 for gene: ERCC4 Publications for gene ERCC4 were changed from 17183314 to 8797827; 3372781 |
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| DDG2P v0.1 | ERCC4 |
Rebecca Foulger Added phenotypes XFE PROGEROID SYNDROME 610965 for gene: ERCC4 Publications for gene ERCC4 were changed from 23623386 to 17183314 |
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| DDG2P v0.1 | ERCC4 | Rebecca Foulger Added phenotypes PRIMORDIAL DWARFISM 615272 for gene: ERCC4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ERCC4 |
Rebecca Foulger gene: ERCC4 was added gene: ERCC4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC4 were set to 23623386 Phenotypes for gene: ERCC4 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP Q 615272 |
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| DDG2P v0.1 | ERCC3 | Rebecca Foulger Added phenotypes TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 for gene: ERCC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ERCC3 |
Rebecca Foulger gene: ERCC3 was added gene: ERCC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC3 were set to 4811796; 16947863; 8408834 Phenotypes for gene: ERCC3 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B 610651 |
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| DDG2P v0.1 | ERCC2 |
Rebecca Foulger Added phenotypes TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 for gene: ERCC2 Publications for gene ERCC2 were changed from 9101292; 7849702; 7585650; 11443545; 11709541 to 9758621; 15220921; 7920640; 8571952; 9195225; 9012405 |
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| DDG2P v0.1 | ERCC2 |
Rebecca Foulger Added phenotypes XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D 278730 for gene: ERCC2 Publications for gene ERCC2 were changed from 11443545 to 9101292; 7849702; 7585650; 11443545; 11709541 |
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| DDG2P v0.1 | ERCC2 |
Rebecca Foulger gene: ERCC2 was added gene: ERCC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC2 were set to 11443545 Phenotypes for gene: ERCC2 were set to CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 610756 |
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| DDG2P v0.1 | ERCC1 |
Rebecca Foulger Added phenotypes CEREBROOCULOFACIOSKELETAL SYNDROME 4 298956 for gene: ERCC1 Publications for gene ERCC1 were changed from 23623389 to 17273966 |
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| DDG2P v0.1 | ERCC1 |
Rebecca Foulger gene: ERCC1 was added gene: ERCC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC1 were set to 23623389 Phenotypes for gene: ERCC1 were set to FANCONI ANEMIA 229154 |
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| DDG2P v0.1 | ERBB3 | Rebecca Foulger Added phenotypes Hirschprung disease with intestinal pseudo-obstruction for gene: ERBB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ERBB3 |
Rebecca Foulger gene: ERBB3 was added gene: ERBB3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERBB3 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598 Mode of pathogenicity for gene: ERBB3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | EPHB4 |
Rebecca Foulger gene: EPHB4 was added gene: EPHB4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EPHB4 were set to 28687708; 29444212 Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2 |
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| DDG2P v0.1 | EPG5 |
Rebecca Foulger gene: EPG5 was added gene: EPG5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957; 3344762 Phenotypes for gene: EPG5 were set to IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 242840 |
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| DDG2P v0.1 | EPB41L1 |
Rebecca Foulger gene: EPB41L1 was added gene: EPB41L1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: EPB41L1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EPB41L1 were set to 21376300 Phenotypes for gene: EPB41L1 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: EPB41L1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | EP300 |
Rebecca Foulger gene: EP300 was added gene: EP300 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EP300 were set to 17299436; 20014264; 19353645; 15706485 Phenotypes for gene: EP300 were set to RUBINSTEIN-TAYBI SYNDROME TYPE 2 613684 |
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| DDG2P v0.1 | EOMES |
Rebecca Foulger gene: EOMES was added gene: EOMES was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: EOMES was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EOMES were set to 17353897 Phenotypes for gene: EOMES were set to POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS |
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| DDG2P v0.1 | EOGT |
Rebecca Foulger gene: EOGT was added gene: EOGT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EOGT were set to 23522784 Phenotypes for gene: EOGT were set to ADAMS OLIVER SYNDROME |
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| DDG2P v0.1 | ENTPD1 |
Rebecca Foulger gene: ENTPD1 was added gene: ENTPD1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENTPD1 were set to 21937992 Phenotypes for gene: ENTPD1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ENTPD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ENPP1 |
Rebecca Foulger Added phenotypes ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 208000 for gene: ENPP1 Publications for gene ENPP1 were changed from 20137773; 20137772 to 19206175; 15940697; 22209248; 11159191; 12881724; 15605415 |
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| DDG2P v0.1 | ENPP1 |
Rebecca Foulger gene: ENPP1 was added gene: ENPP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENPP1 were set to 20137773; 20137772 Phenotypes for gene: ENPP1 were set to HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 613312 |
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| DDG2P v0.1 | EMX2 |
Rebecca Foulger gene: EMX2 was added gene: EMX2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EMX2 were set to FAMILIAL SCHIZENCEPHALY, EMX2-RELATED 269160 |
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| DDG2P v0.1 | EMG1 |
Rebecca Foulger gene: EMG1 was added gene: EMG1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMG1 were set to 26676230; 19463982; 25708872; 27798105 Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome Mode of pathogenicity for gene: EMG1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | EMC1 | Rebecca Foulger Added phenotypes Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. for gene: EMC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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