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Skeletal dysplasia v1.145 WNT5A Eleanor Williams Source NHS GMS was added to WNT5A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WNT3 Eleanor Williams Source NHS GMS was added to WNT3.
Skeletal dysplasia v1.145 WNT10B Eleanor Williams Source NHS GMS was added to WNT10B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WNT1 Eleanor Williams Source NHS GMS was added to WNT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WISP3 Eleanor Williams Source NHS GMS was added to WISP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WDR60 Eleanor Williams Source NHS GMS was added to WDR60.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WDR35 Eleanor Williams Source NHS GMS was added to WDR35.
Skeletal dysplasia v1.145 WDR34 Eleanor Williams Source NHS GMS was added to WDR34.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WDR19 Eleanor Williams Source NHS GMS was added to WDR19.
Skeletal dysplasia v1.145 UFSP2 Eleanor Williams gene: UFSP2 was added
gene: UFSP2 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: UFSP2 was set to
Skeletal dysplasia v1.145 TYROBP Eleanor Williams Source NHS GMS was added to TYROBP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TWIST2 Eleanor Williams Source NHS GMS was added to TWIST2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TWIST1 Eleanor Williams Source NHS GMS was added to TWIST1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TTC21B Eleanor Williams Source NHS GMS was added to TTC21B.
Skeletal dysplasia v1.145 TRPV4 Eleanor Williams Source NHS GMS was added to TRPV4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TRPS1 Eleanor Williams Source NHS GMS was added to TRPS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TRIP11 Eleanor Williams Source NHS GMS was added to TRIP11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TREM2 Eleanor Williams Source NHS GMS was added to TREM2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TRAPPC2 Eleanor Williams Source NHS GMS was added to TRAPPC2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TP63 Eleanor Williams Source NHS GMS was added to TP63.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TNFSF11 Eleanor Williams Source NHS GMS was added to TNFSF11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TNFRSF11B Eleanor Williams Source NHS GMS was added to TNFRSF11B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TNFRSF11A Eleanor Williams Source NHS GMS was added to TNFRSF11A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TMEM67 Eleanor Williams Source NHS GMS was added to TMEM67.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TMEM38B Eleanor Williams Source NHS GMS was added to TMEM38B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TMEM231 Eleanor Williams Source NHS GMS was added to TMEM231.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TMEM216 Eleanor Williams Source NHS GMS was added to TMEM216.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TMEM165 Eleanor Williams Source NHS GMS was added to TMEM165.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TMCO1 Eleanor Williams Source NHS GMS was added to TMCO1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 THPO Eleanor Williams Source NHS GMS was added to THPO.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TGFBR2 Eleanor Williams Source NHS GMS was added to TGFBR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TGFBR1 Eleanor Williams Source NHS GMS was added to TGFBR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TGFB2 Eleanor Williams Source NHS GMS was added to TGFB2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TGFB1 Eleanor Williams Source NHS GMS was added to TGFB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TGDS Eleanor Williams gene: TGDS was added
gene: TGDS was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: TGDS was set to
Skeletal dysplasia v1.145 TERT Eleanor Williams Source NHS GMS was added to TERT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TCTN3 Eleanor Williams Source NHS GMS was added to TCTN3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TCTN2 Eleanor Williams Source NHS GMS was added to TCTN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TCTEX1D2 Eleanor Williams Source NHS GMS was added to TCTEX1D2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TCOF1 Eleanor Williams Source NHS GMS was added to TCOF1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TCIRG1 Eleanor Williams Source NHS GMS was added to TCIRG1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TCF12 Eleanor Williams Source NHS GMS was added to TCF12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TBXAS1 Eleanor Williams Source NHS GMS was added to TBXAS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TBX6 Eleanor Williams Source NHS GMS was added to TBX6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TBX5 Eleanor Williams Source NHS GMS was added to TBX5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TBX4 Eleanor Williams Source NHS GMS was added to TBX4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TBX3 Eleanor Williams Source NHS GMS was added to TBX3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TBX15 Eleanor Williams Source NHS GMS was added to TBX15.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TBCE Eleanor Williams Source NHS GMS was added to TBCE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TALDO1 Eleanor Williams Source NHS GMS was added to TALDO1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SUMF1 Eleanor Williams Source NHS GMS was added to SUMF1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SULF1 Eleanor Williams Source NHS GMS was added to SULF1.
Skeletal dysplasia v1.145 SP7 Eleanor Williams Source NHS GMS was added to SP7.
Skeletal dysplasia v1.145 SOX9 Eleanor Williams Source NHS GMS was added to SOX9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SOST Eleanor Williams Source NHS GMS was added to SOST.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SNX10 Eleanor Williams Source NHS GMS was added to SNX10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SNRPB Eleanor Williams Source NHS GMS was added to SNRPB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SMOC1 Eleanor Williams Source NHS GMS was added to SMOC1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SMC3 Eleanor Williams Source NHS GMS was added to SMC3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SMC1A Eleanor Williams Source NHS GMS was added to SMC1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SMARCAL1 Eleanor Williams Source NHS GMS was added to SMARCAL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SMAD4 Eleanor Williams Source NHS GMS was added to SMAD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SMAD3 Eleanor Williams Source NHS GMS was added to SMAD3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SLCO5A1 Eleanor Williams Source NHS GMS was added to SLCO5A1.
Skeletal dysplasia v1.145 SLCO2A1 Eleanor Williams Source NHS GMS was added to SLCO2A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SLC39A13 Eleanor Williams Source NHS GMS was added to SLC39A13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SLC35D1 Eleanor Williams Source NHS GMS was added to SLC35D1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SLC34A3 Eleanor Williams Source NHS GMS was added to SLC34A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SLC29A3 Eleanor Williams Source NHS GMS was added to SLC29A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SLC26A2 Eleanor Williams Source NHS GMS was added to SLC26A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SLC17A5 Eleanor Williams Source NHS GMS was added to SLC17A5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SKI Eleanor Williams Source NHS GMS was added to SKI.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SHOX Eleanor Williams Source NHS GMS was added to SHOX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SH3PXD2B Eleanor Williams Source NHS GMS was added to SH3PXD2B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SH3BP2 Eleanor Williams Source NHS GMS was added to SH3BP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SGSH Eleanor Williams Source NHS GMS was added to SGSH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SFRP4 Eleanor Williams Source NHS GMS was added to SFRP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SF3B4 Eleanor Williams Source NHS GMS was added to SF3B4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SETD2 Eleanor Williams Source NHS GMS was added to SETD2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SERPINH1 Eleanor Williams Source NHS GMS was added to SERPINH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SERPINF1 Eleanor Williams Source NHS GMS was added to SERPINF1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SEC24D Eleanor Williams Source NHS GMS was added to SEC24D.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SCARF2 Eleanor Williams Source NHS GMS was added to SCARF2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SBDS Eleanor Williams Source NHS GMS was added to SBDS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SALL4 Eleanor Williams Source NHS GMS was added to SALL4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SALL1 Eleanor Williams Source NHS GMS was added to SALL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RUNX2 Eleanor Williams Source NHS GMS was added to RUNX2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RPGRIP1L Eleanor Williams Source NHS GMS was added to RPGRIP1L.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ROR2 Eleanor Williams Source NHS GMS was added to ROR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RNU4ATAC Eleanor Williams Source NHS GMS was added to RNU4ATAC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RMRP Eleanor Williams Source NHS GMS was added to RMRP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RIPPLY2 Eleanor Williams gene: RIPPLY2 was added
gene: RIPPLY2 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: RIPPLY2 was set to
Skeletal dysplasia v1.145 RFT1 Eleanor Williams Source NHS GMS was added to RFT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RECQL4 Eleanor Williams Source NHS GMS was added to RECQL4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WRN Eleanor Williams gene: WRN was added
gene: WRN was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: WRN was set to
Skeletal dysplasia v1.145 RBPJ Eleanor Williams Source NHS GMS was added to RBPJ.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RBM8A Eleanor Williams Source NHS GMS was added to RBM8A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RASGRP2 Eleanor Williams Source NHS GMS was added to RASGRP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RAD21 Eleanor Williams Source NHS GMS was added to RAD21.
Skeletal dysplasia v1.145 RAB33B Eleanor Williams Source NHS GMS was added to RAB33B.
Skeletal dysplasia v1.145 RAB23 Eleanor Williams Source NHS GMS was added to RAB23.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PYCR1 Eleanor Williams Source NHS GMS was added to PYCR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PUF60 Eleanor Williams Source NHS GMS was added to PUF60.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PTPN11 Eleanor Williams Source NHS GMS was added to PTPN11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PTHLH Eleanor Williams Source NHS GMS was added to PTHLH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PTH1R Eleanor Williams Source NHS GMS was added to PTH1R.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PTDSS1 Eleanor Williams Source NHS GMS was added to PTDSS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PSPH Eleanor Williams Source NHS GMS was added to PSPH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PSAT1 Eleanor Williams Source NHS GMS was added to PSAT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PRMT7 Eleanor Williams Source NHS GMS was added to PRMT7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PRKAR1A Eleanor Williams Source NHS GMS was added to PRKAR1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PPIB Eleanor Williams Source NHS GMS was added to PPIB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 POR Eleanor Williams Source NHS GMS was added to POR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 POP1 Eleanor Williams Source NHS GMS was added to POP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 POLR1D Eleanor Williams Source NHS GMS was added to POLR1D.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 POLR1C Eleanor Williams Source NHS GMS was added to POLR1C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 POLR1A Eleanor Williams Source NHS GMS was added to POLR1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 POC1A Eleanor Williams Source NHS GMS was added to POC1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PLS3 Eleanor Williams Source NHS GMS was added to PLS3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PLOD2 Eleanor Williams Source NHS GMS was added to PLOD2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PLEKHM1 Eleanor Williams Source NHS GMS was added to PLEKHM1.
Skeletal dysplasia v1.145 PITX1 Eleanor Williams Source NHS GMS was added to PITX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PIK3R1 Eleanor Williams Source NHS GMS was added to PIK3R1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PIK3CA Eleanor Williams gene: PIK3CA was added
gene: PIK3CA was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: PIK3CA was set to
Skeletal dysplasia v1.145 PIGV Eleanor Williams Source NHS GMS was added to PIGV.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PIGT Eleanor Williams Source NHS GMS was added to PIGT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PHGDH Eleanor Williams Source NHS GMS was added to PHGDH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PHEX Eleanor Williams Source NHS GMS was added to PHEX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PGM3 Eleanor Williams Source NHS GMS was added to PGM3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PEX7 Eleanor Williams Source NHS GMS was added to PEX7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PEX5 Eleanor Williams Source NHS GMS was added to PEX5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PDE4D Eleanor Williams Source NHS GMS was added to PDE4D.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PDE3A Eleanor Williams Source NHS GMS was added to PDE3A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PCYT1A Eleanor Williams Source NHS GMS was added to PCYT1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PCNT Eleanor Williams Source NHS GMS was added to PCNT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PAPSS2 Eleanor Williams Source NHS GMS was added to PAPSS2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PAM16 Eleanor Williams Source NHS GMS was added to PAM16.
Skeletal dysplasia v1.145 P4HB Eleanor Williams Source NHS GMS was added to P4HB.
Skeletal dysplasia v1.145 P3H1 Eleanor Williams Source NHS GMS was added to P3H1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 OSTM1 Eleanor Williams Source NHS GMS was added to OSTM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ORC6 Eleanor Williams Source NHS GMS was added to ORC6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ORC4 Eleanor Williams Source NHS GMS was added to ORC4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ORC1 Eleanor Williams Source NHS GMS was added to ORC1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 OFD1 Eleanor Williams Source NHS GMS was added to OFD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 OBSL1 Eleanor Williams Source NHS GMS was added to OBSL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 OAT Eleanor Williams gene: OAT was added
gene: OAT was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: OAT was set to
Skeletal dysplasia v1.145 NSDHL Eleanor Williams Source NHS GMS was added to NSDHL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NSD1 Eleanor Williams Source NHS GMS was added to NSD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NPR2 Eleanor Williams Source NHS GMS was added to NPR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NOTCH2 Eleanor Williams Source NHS GMS was added to NOTCH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NOTCH1 Eleanor Williams Source NHS GMS was added to NOTCH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NOG Eleanor Williams Source NHS GMS was added to NOG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NLRP3 Eleanor Williams Source NHS GMS was added to NLRP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NKX3-2 Eleanor Williams Source NHS GMS was added to NKX3-2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NIPBL Eleanor Williams Source NHS GMS was added to NIPBL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NIN Eleanor Williams Source NHS GMS was added to NIN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NFIX Eleanor Williams Source NHS GMS was added to NFIX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NF1 Eleanor Williams Source NHS GMS was added to NF1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NEU1 Eleanor Williams Source NHS GMS was added to NEU1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NEK1 Eleanor Williams Source NHS GMS was added to NEK1.
Skeletal dysplasia v1.145 NANS Eleanor Williams Source NHS GMS was added to NANS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NAGLU Eleanor Williams Source NHS GMS was added to NAGLU.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MYCN Eleanor Williams Source NHS GMS was added to MYCN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MSX2 Eleanor Williams Source NHS GMS was added to MSX2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MPDU1 Eleanor Williams Source NHS GMS was added to MPDU1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MNX1 Eleanor Williams Source NHS GMS was added to MNX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MMP9 Eleanor Williams Source NHS GMS was added to MMP9.
Skeletal dysplasia v1.145 MMP2 Eleanor Williams Source NHS GMS was added to MMP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MMP13 Eleanor Williams Source NHS GMS was added to MMP13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MKS1 Eleanor Williams Source NHS GMS was added to MKS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MIR17HG Eleanor Williams Source NHS GMS was added to MIR17HG.
Skeletal dysplasia v1.145 MGP Eleanor Williams Source NHS GMS was added to MGP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MESP2 Eleanor Williams Source NHS GMS was added to MESP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MEOX1 Eleanor Williams Source NHS GMS was added to MEOX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MEGF8 Eleanor Williams Source NHS GMS was added to MEGF8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MATN3 Eleanor Williams Source NHS GMS was added to MATN3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal dysplasia v1.145 MASP1 Eleanor Williams gene: MASP1 was added
gene: MASP1 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: MASP1 was set to
Skeletal dysplasia v1.145 MAP3K7 Eleanor Williams Source NHS GMS was added to MAP3K7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MAN2B1 Eleanor Williams Source NHS GMS was added to MAN2B1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MAFB Eleanor Williams Source NHS GMS was added to MAFB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LTBP3 Eleanor Williams Source NHS GMS was added to LTBP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LTBP2 Eleanor Williams gene: LTBP2 was added
gene: LTBP2 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: LTBP2 was set to
Skeletal dysplasia v1.145 LRP5 Eleanor Williams Source NHS GMS was added to LRP5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LRP4 Eleanor Williams Source NHS GMS was added to LRP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LPIN2 Eleanor Williams Source NHS GMS was added to LPIN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LONP1 Eleanor Williams Source NHS GMS was added to LONP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LMX1B Eleanor Williams Source NHS GMS was added to LMX1B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LMNA Eleanor Williams Source NHS GMS was added to LMNA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LMBR1 Eleanor Williams Source NHS GMS was added to LMBR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LIFR Eleanor Williams Source NHS GMS was added to LIFR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LFNG Eleanor Williams Source NHS GMS was added to LFNG.
Skeletal dysplasia v1.145 LEMD3 Eleanor Williams Source NHS GMS was added to LEMD3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LBR Eleanor Williams Source NHS GMS was added to LBR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 KMT2D Eleanor Williams gene: KMT2D was added
gene: KMT2D was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: KMT2D was set to
Skeletal dysplasia v1.145 KIF7 Eleanor Williams Source NHS GMS was added to KIF7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 KIF22 Eleanor Williams Source NHS GMS was added to KIF22.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 KAT6B Eleanor Williams Source NHS GMS was added to KAT6B.
Skeletal dysplasia v1.145 KAT6A Eleanor Williams Source NHS GMS was added to KAT6A.
Skeletal dysplasia v1.145 INPPL1 Eleanor Williams Source NHS GMS was added to INPPL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IMPAD1 Eleanor Williams Source NHS GMS was added to IMPAD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IL1RN Eleanor Williams Source NHS GMS was added to IL1RN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IL11RA Eleanor Williams Source NHS GMS was added to IL11RA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IKBKG Eleanor Williams Source NHS GMS was added to IKBKG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IHH Eleanor Williams Source NHS GMS was added to IHH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IGF1R Eleanor Williams gene: IGF1R was added
gene: IGF1R was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: IGF1R was set to
Skeletal dysplasia v1.145 IFT81 Eleanor Williams Source NHS GMS was added to IFT81.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFT80 Eleanor Williams Source NHS GMS was added to IFT80.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFT52 Eleanor Williams Source NHS GMS was added to IFT52.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFT43 Eleanor Williams Source NHS GMS was added to IFT43.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFT172 Eleanor Williams Source NHS GMS was added to IFT172.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFT140 Eleanor Williams Source NHS GMS was added to IFT140.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFT122 Eleanor Williams Source NHS GMS was added to IFT122.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFITM5 Eleanor Williams Source NHS GMS was added to IFITM5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFIH1 Eleanor Williams gene: IFIH1 was added
gene: IFIH1 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: IFIH1 was set to
Skeletal dysplasia v1.145 IDUA Eleanor Williams Source NHS GMS was added to IDUA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IDS Eleanor Williams Source NHS GMS was added to IDS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IDH2 Eleanor Williams Source NHS GMS was added to IDH2.
Skeletal dysplasia v1.145 IDH1 Eleanor Williams Source NHS GMS was added to IDH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ICK Eleanor Williams Source NHS GMS was added to ICK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HSPG2 Eleanor Williams Source NHS GMS was added to HSPG2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HPGD Eleanor Williams Source NHS GMS was added to HPGD.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HOXD13 Eleanor Williams Source NHS GMS was added to HOXD13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HOXD11 Eleanor Williams gene: HOXD11 was added
gene: HOXD11 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: HOXD11 was set to
Skeletal dysplasia v1.145 HOXA13 Eleanor Williams Source NHS GMS was added to HOXA13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HOXA11 Eleanor Williams Source NHS GMS was added to HOXA11.
Skeletal dysplasia v1.145 HNRNPK Eleanor Williams Source NHS GMS was added to HNRNPK.
Skeletal dysplasia v1.145 HGSNAT Eleanor Williams Source NHS GMS was added to HGSNAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HES7 Eleanor Williams Source NHS GMS was added to HES7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HDAC8 Eleanor Williams Source NHS GMS was added to HDAC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HDAC4 Eleanor Williams Source NHS GMS was added to HDAC4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GZF1 Eleanor Williams Source NHS GMS was added to GZF1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GUSB Eleanor Williams Source NHS GMS was added to GUSB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GSC Eleanor Williams Source NHS GMS was added to GSC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GPX4 Eleanor Williams Source NHS GMS was added to GPX4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GPC6 Eleanor Williams Source NHS GMS was added to GPC6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GORAB Eleanor Williams Source NHS GMS was added to GORAB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GNS Eleanor Williams Source NHS GMS was added to GNS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GNPTG Eleanor Williams Source NHS GMS was added to GNPTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GNPTAB Eleanor Williams Source NHS GMS was added to GNPTAB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GNPAT Eleanor Williams Source NHS GMS was added to GNPAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GNAS Eleanor Williams Source NHS GMS was added to GNAS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GLI3 Eleanor Williams Source NHS GMS was added to GLI3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GLB1 Eleanor Williams Source NHS GMS was added to GLB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GJA1 Eleanor Williams Source NHS GMS was added to GJA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GHR Eleanor Williams Source NHS GMS was added to GHR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GDF6 Eleanor Williams Source NHS GMS was added to GDF6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GDF5 Eleanor Williams Source NHS GMS was added to GDF5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GDF3 Eleanor Williams gene: GDF3 was added
gene: GDF3 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: GDF3 was set to
Skeletal dysplasia v1.145 GALNT3 Eleanor Williams Source NHS GMS was added to GALNT3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GALNS Eleanor Williams Source NHS GMS was added to GALNS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FZD2 Eleanor Williams Source NHS GMS was added to FZD2.
Skeletal dysplasia v1.145 FUCA1 Eleanor Williams Source NHS GMS was added to FUCA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FN1 Eleanor Williams gene: FN1 was added
gene: FN1 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: FN1 was set to
Skeletal dysplasia v1.145 FLNB Eleanor Williams Source NHS GMS was added to FLNB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FLNA Eleanor Williams Source NHS GMS was added to FLNA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FKBP10 Eleanor Williams Source NHS GMS was added to FKBP10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FIG4 Eleanor Williams Source NHS GMS was added to FIG4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FGFR3 Eleanor Williams Source NHS GMS was added to FGFR3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FGFR2 Eleanor Williams Source NHS GMS was added to FGFR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FGFR1 Eleanor Williams Source NHS GMS was added to FGFR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FGF9 Eleanor Williams Source NHS GMS was added to FGF9.
Skeletal dysplasia v1.145 FGF23 Eleanor Williams Source NHS GMS was added to FGF23.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FGF16 Eleanor Williams Source NHS GMS was added to FGF16.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FGF10 Eleanor Williams Source NHS GMS was added to FGF10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FERMT3 Eleanor Williams Source NHS GMS was added to FERMT3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FBN2 Eleanor Williams Source NHS GMS was added to FBN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FBN1 Eleanor Williams Source NHS GMS was added to FBN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FBLN1 Eleanor Williams Source NHS GMS was added to FBLN1.
Skeletal dysplasia v1.145 FBLIM1 Eleanor Williams gene: FBLIM1 was added
gene: FBLIM1 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: FBLIM1 was set to
Skeletal dysplasia v1.145 FAM58A Eleanor Williams Source NHS GMS was added to FAM58A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FAM20C Eleanor Williams Source NHS GMS was added to FAM20C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FAM111A Eleanor Williams Source NHS GMS was added to FAM111A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EZH2 Eleanor Williams Source NHS GMS was added to EZH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EXTL3 Eleanor Williams Source NHS GMS was added to EXTL3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EXT2 Eleanor Williams Source NHS GMS was added to EXT2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EXT1 Eleanor Williams Source NHS GMS was added to EXT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EVC2 Eleanor Williams Source NHS GMS was added to EVC2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EVC Eleanor Williams Source NHS GMS was added to EVC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ESCO2 Eleanor Williams Source NHS GMS was added to ESCO2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ERF Eleanor Williams Source NHS GMS was added to ERF.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EP300 Eleanor Williams Source NHS GMS was added to EP300.
Skeletal dysplasia v1.145 EOGT Eleanor Williams Source NHS GMS was added to EOGT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ENPP1 Eleanor Williams Source NHS GMS was added to ENPP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EIF2AK3 Eleanor Williams Source NHS GMS was added to EIF2AK3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EFTUD2 Eleanor Williams Source NHS GMS was added to EFTUD2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EFNB1 Eleanor Williams Source NHS GMS was added to EFNB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EED Eleanor Williams Source NHS GMS was added to EED.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EBP Eleanor Williams Source NHS GMS was added to EBP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DYNC2LI1 Eleanor Williams Source NHS GMS was added to DYNC2LI1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DYNC2H1 Eleanor Williams Source NHS GMS was added to DYNC2H1.
Skeletal dysplasia v1.145 DYM Eleanor Williams Source NHS GMS was added to DYM.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DVL3 Eleanor Williams Source NHS GMS was added to DVL3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DVL1 Eleanor Williams Source NHS GMS was added to DVL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DPM1 Eleanor Williams Source NHS GMS was added to DPM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DOCK6 Eleanor Williams Source NHS GMS was added to DOCK6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DNMT3A Eleanor Williams Source NHS GMS was added to DNMT3A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DMP1 Eleanor Williams Source NHS GMS was added to DMP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DLX6 Eleanor Williams Source NHS GMS was added to DLX6.
Skeletal dysplasia v1.145 DLX5 Eleanor Williams Source NHS GMS was added to DLX5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DLX3 Eleanor Williams Source NHS GMS was added to DLX3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DLL4 Eleanor Williams Source NHS GMS was added to DLL4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DLL3 Eleanor Williams Source NHS GMS was added to DLL3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DIS3L2 Eleanor Williams Source NHS GMS was added to DIS3L2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DHODH Eleanor Williams Source NHS GMS was added to DHODH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DHCR24 Eleanor Williams Source NHS GMS was added to DHCR24.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DDR2 Eleanor Williams Source NHS GMS was added to DDR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DCC Eleanor Williams Source NHS GMS was added to DCC.
Skeletal dysplasia v1.145 CYP27B1 Eleanor Williams Source NHS GMS was added to CYP27B1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CUL7 Eleanor Williams Source NHS GMS was added to CUL7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CTSK Eleanor Williams Source NHS GMS was added to CTSK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CTSC Eleanor Williams Source NHS GMS was added to CTSC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CTSA Eleanor Williams Source NHS GMS was added to CTSA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CSPP1 Eleanor Williams Source NHS GMS was added to CSPP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CRTAP Eleanor Williams Source NHS GMS was added to CRTAP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CREBBP Eleanor Williams Source NHS GMS was added to CREBBP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CREB3L1 Eleanor Williams Source NHS GMS was added to CREB3L1.
Skeletal dysplasia v1.145 COMP Eleanor Williams Source NHS GMS was added to COMP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COLEC11 Eleanor Williams Source NHS GMS was added to COLEC11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COLEC10 Eleanor Williams gene: COLEC10 was added
gene: COLEC10 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: COLEC10 was set to
Skeletal dysplasia v1.145 COL9A3 Eleanor Williams Source NHS GMS was added to COL9A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL9A2 Eleanor Williams Source NHS GMS was added to COL9A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL9A1 Eleanor Williams Source NHS GMS was added to COL9A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL2A1 Eleanor Williams Source NHS GMS was added to COL2A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL1A2 Eleanor Williams Source NHS GMS was added to COL1A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL1A1 Eleanor Williams Source NHS GMS was added to COL1A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL11A2 Eleanor Williams Source NHS GMS was added to COL11A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL11A1 Eleanor Williams Source NHS GMS was added to COL11A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL10A1 Eleanor Williams Source NHS GMS was added to COL10A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COG1 Eleanor Williams Source NHS GMS was added to COG1.
Skeletal dysplasia v1.145 CLCN7 Eleanor Williams Source NHS GMS was added to CLCN7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CLCN5 Eleanor Williams Source NHS GMS was added to CLCN5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CKAP2L Eleanor Williams gene: CKAP2L was added
gene: CKAP2L was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: CKAP2L was set to
Skeletal dysplasia v1.145 CHSY1 Eleanor Williams Source NHS GMS was added to CHSY1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CHST3 Eleanor Williams Source NHS GMS was added to CHST3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CHST14 Eleanor Williams Source NHS GMS was added to CHST14.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 C21orf2 Eleanor Williams Source NHS GMS was added to C21orf2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CEP290 Eleanor Williams Source NHS GMS was added to CEP290.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CEP120 Eleanor Williams Source NHS GMS was added to CEP120.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CDT1 Eleanor Williams Source NHS GMS was added to CDT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CDKN1C Eleanor Williams Source NHS GMS was added to CDKN1C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CDH3 Eleanor Williams Source NHS GMS was added to CDH3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CDC45 Eleanor Williams Source NHS GMS was added to CDC45.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CD96 Eleanor Williams gene: CD96 was added
gene: CD96 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: CD96 was set to
Skeletal dysplasia v1.145 CCDC8 Eleanor Williams Source NHS GMS was added to CCDC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CC2D2A Eleanor Williams Source NHS GMS was added to CC2D2A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CASR Eleanor Williams Source NHS GMS was added to CASR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CANT1 Eleanor Williams Source NHS GMS was added to CANT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CA2 Eleanor Williams Source NHS GMS was added to CA2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 C2CD3 Eleanor Williams Source NHS GMS was added to C2CD3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 BMPR1B Eleanor Williams Source NHS GMS was added to BMPR1B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 BMPER Eleanor Williams Source NHS GMS was added to BMPER.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 BMP2 Eleanor Williams Source NHS GMS was added to BMP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 BMP1 Eleanor Williams Source NHS GMS was added to BMP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 BHLHA9 Eleanor Williams Source NHS GMS was added to BHLHA9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 B9D1 Eleanor Williams Source NHS GMS was added to B9D1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 B4GALT7 Eleanor Williams Source NHS GMS was added to B4GALT7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 B3GAT3 Eleanor Williams Source NHS GMS was added to B3GAT3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 B3GALT6 Eleanor Williams Source NHS GMS was added to B3GALT6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ATP7A Eleanor Williams Source NHS GMS was added to ATP7A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ATP6V0A2 Eleanor Williams Source NHS GMS was added to ATP6V0A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ASXL2 Eleanor Williams Source NHS GMS was added to ASXL2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ASXL1 Eleanor Williams Source NHS GMS was added to ASXL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ARSE Eleanor Williams Source NHS GMS was added to ARSE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ARSB Eleanor Williams Source NHS GMS was added to ARSB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ARID1B Eleanor Williams Source NHS GMS was added to ARID1B.
Skeletal dysplasia v1.145 ARHGAP31 Eleanor Williams Source NHS GMS was added to ARHGAP31.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ANTXR2 Eleanor Williams Source NHS GMS was added to ANTXR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ANO5 Eleanor Williams Source NHS GMS was added to ANO5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ANKRD11 Eleanor Williams Source NHS GMS was added to ANKRD11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ANKH Eleanor Williams Source NHS GMS was added to ANKH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 AMER1 Eleanor Williams Source NHS GMS was added to AMER1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ALX4 Eleanor Williams Source NHS GMS was added to ALX4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ALX3 Eleanor Williams Source NHS GMS was added to ALX3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ALX1 Eleanor Williams Source NHS GMS was added to ALX1.
Skeletal dysplasia v1.145 ALPL Eleanor Williams Source NHS GMS was added to ALPL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ALG9 Eleanor Williams Source NHS GMS was added to ALG9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ALG3 Eleanor Williams Source NHS GMS was added to ALG3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ALG12 Eleanor Williams Source NHS GMS was added to ALG12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 AKT1 Eleanor Williams Source NHS GMS was added to AKT1.
Skeletal dysplasia v1.145 AGPS Eleanor Williams Source NHS GMS was added to AGPS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 AGA Eleanor Williams Source NHS GMS was added to AGA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ADAMTSL2 Eleanor Williams Source NHS GMS was added to ADAMTSL2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ADAMTS17 Eleanor Williams gene: ADAMTS17 was added
gene: ADAMTS17 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: ADAMTS17 was set to
Skeletal dysplasia v1.145 ADAMTS10 Eleanor Williams gene: ADAMTS10 was added
gene: ADAMTS10 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: ADAMTS10 was set to
Skeletal dysplasia v1.145 ACVR1 Eleanor Williams Source NHS GMS was added to ACVR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ACP5 Eleanor Williams Source NHS GMS was added to ACP5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ACAN Eleanor Williams Source NHS GMS was added to ACAN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ABL1 Eleanor Williams Source NHS GMS was added to ABL1.
Skeletal dysplasia v1.145 ABCC9 Eleanor Williams Source NHS GMS was added to ABCC9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.143 ISCA-37501-Loss Louise Daugherty Triplosensitivity Score for ISCA-37501-Loss was changed from 2 to None.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.142 ISCA-37501-Loss Louise Daugherty Classified Region: ISCA-37501-Loss as Green List (high evidence)
Skeletal dysplasia v1.142 ISCA-37501-Loss Louise Daugherty Region: isca-37501-loss has been classified as Green List (High Evidence).
Skeletal dysplasia v1.141 ISCA-37501-Loss Louise Daugherty Region: ISCA-37501-Loss was added
Region: ISCA-37501-Loss was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37501-Loss were set to 20206336; 22052739
Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
Review for Region: ISCA-37501-Loss was set to GREEN
Added comment: Sources: Expert list
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Marked gene: TRPV6 as ready
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Added comment: Comment when marking as ready: Sufficient cases, relevant phenotype. Therefore considered green. Also I will add it to the thoracic dystrophies and OI panels in view of the presentation with small chest / respiratory distress and fractures.
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Classified gene: TRPV6 as Green List (high evidence)
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Added comment: Comment on list classification: Sufficient cases, relevant phenotype
Skeletal dysplasia v1.140 TRPV6 Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.139 TRPV6 Helen Brittain gene: TRPV6 was added
gene: TRPV6 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188
Penetrance for gene: TRPV6 were set to unknown
Review for gene: TRPV6 was set to GREEN
Added comment: 6 unrelated children with skeletal abnormalities detected in the third trimester of pregnancy, who presented at birth with elevated serum PTH and alkaline phosphatase activity, with normal or low ionized calcium. Skeletal anomalies included generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. All affected individuals experienced postnatal respiratory difficulties requiring ventilatory support in the first few weeks to months of life. In addition, most showed poor feeding, with some requiring tube feeding.
Sources: Literature
Skeletal dysplasia v1.138 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Skeletal dysplasia v1.137 Louise Daugherty List of related panels changed from Unexplained skeletal dysplasia; Skeletal dysplasia; GMS R104 to Unexplained skeletal dysplasia; Skeletal dysplasia
Skeletal dysplasia v1.135 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516
Skeletal dysplasia v1.134 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516
Skeletal dysplasia v1.133 ABL1 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Seleced 'LOF do not cause this phenotype' on advice from Helen Brittain, Clinical Fellow, in view of the postulated gain of function mechanism (two recurent missense variants in PMID:28288113).
Skeletal dysplasia v1.133 ABL1 Rebecca Foulger Mode of pathogenicity for gene: ABL1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v1.132 ABL1 Rebecca Foulger Classified gene: ABL1 as Amber List (moderate evidence)
Skeletal dysplasia v1.132 ABL1 Rebecca Foulger Gene: abl1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v1.131 ABL1 Rebecca Foulger gene: ABL1 was added
gene: ABL1 was added to Skeletal dysplasia. Sources: Literature
missense tags were added to gene: ABL1.
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABL1 were set to 28288113
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, 617602
Mode of pathogenicity for gene: ABL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added comment: Added to Skeletal dysplasia panel with Amber rating as suggested by Helen Brittain. Wang et al, 2017 (PMID:28288113) report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. They report 2 variants in 4 families (6 individuals). Helen Brittain, clinical fellow, notes that: "the broader skeletal manifestations (scoliosis / pectus) are classically thought of as part of the Marfan / FTAAD spectrum rather than a skeletal dysplasia. Therefore do not think that skeletal dysplasia (or limb panel) would be the primary route for diagnosis here and would opt for amber on the basis that we need to see the phenotype across other cases first."
Sources: Literature
Skeletal dysplasia v1.130 ATXN10_ATTCT Louise Daugherty Classified STR: ATXN10_ATTCT as No list
Skeletal dysplasia v1.130 ATXN10_ATTCT Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Skeletal dysplasia v1.130 ATXN10_ATTCT Louise Daugherty Str: atxn10_attct has been removed from the panel.
Skeletal dysplasia v1.129 Ellen McDonagh List of related panels changed from Unexplained skeletal dysplasia to Unexplained skeletal dysplasia; Skeletal dysplasia; GMS R104
Skeletal dysplasia v1.128 Ellen McDonagh Panel name changed from Unexplained skeletal dysplasia to Skeletal dysplasia
List of related panels changed from Skeletal dysplasia to Unexplained skeletal dysplasia
Skeletal dysplasia v1.127 WISP3 Louise Daugherty commented on gene: WISP3
Skeletal dysplasia v1.127 WISP3 Louise Daugherty Tag new-gene-name tag was added to gene: WISP3.
Skeletal dysplasia v1.127 SLC10A7 Ellen McDonagh commented on gene: SLC10A7: This gene is not related to a disease in OMIM or Gene2Phenotype.
Skeletal dysplasia v1.127 SLC10A7 Ellen McDonagh gene: SLC10A7 was added
gene: SLC10A7 was added to Unexplained skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715
Phenotypes for gene: SLC10A7 were set to skeletal dysplasia and amelogenesis imperfecta
Added comment: PMID: 30082715 reports five different SLC10A7 variants in four patients from four unrelated families and two patients from two distantly related families. The study states that the variants segregated according to a recessive mode of inheritance, however the genotype was not shown on the pedigree diagram. Further evidence was provided in a knockout mouse model that displayed abnormal development of skeletal structures and teeth anomalies.
Sources: Literature
Skeletal dysplasia v1.126 PDE3A Louise Daugherty Phenotypes for gene: PDE3A were changed from Hypertension and brachydactyly syndrome 112410 to Hypertension and brachydactyly syndrome, 112410
Skeletal dysplasia v1.125 PDE3A Louise Daugherty Publications for gene: PDE3A were set to PMID: 25961942; 9696728
Skeletal dysplasia v1.124 DLL4 Louise Daugherty Phenotypes for gene: DLL4 were changed from Adams-Oliver syndrome 6 616589 to Adams-Oliver syndrome 6, 616589
Skeletal dysplasia v1.123 DVL3 Louise Daugherty Phenotypes for gene: DVL3 were changed from Robinow syndrome, autosomal dominant 3 616894 to Robinow syndrome, autosomal dominant 3, 616894
Skeletal dysplasia v1.122 BMP2 Eleanor Williams commented on gene: BMP2: More than 3 families/cases reported in PMID: 29198724 for monoallelic variants in this gene and Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.
Skeletal dysplasia v1.122 BMP2 Eleanor Williams Publications for gene: BMP2 were set to 19327734; 21357617
Skeletal dysplasia v1.121 BMP2 Eleanor Williams Classified gene: BMP2 as Green List (high evidence)
Skeletal dysplasia v1.121 BMP2 Eleanor Williams Added comment: Comment on list classification: Rating green based on publication (PMID: 29198724) reporting sufficient cases associated with a relevant phenotype. Rating has been checked with Genomics England clinical team.
Skeletal dysplasia v1.121 BMP2 Eleanor Williams Gene: bmp2 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.120 CCDC8 Louise Daugherty Classified gene: CCDC8 as Green List (high evidence)
Skeletal dysplasia v1.120 CCDC8 Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Sufficient unrelated cases and more than one causative variant, and variants in this gene are currently reported in an external diagnostic lab
Skeletal dysplasia v1.120 CCDC8 Louise Daugherty Gene: ccdc8 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.119 CCDC8 Louise Daugherty Phenotypes for gene: CCDC8 were changed from 3-M syndrome 3 614205 to 3-M syndrome 3, 614205
Skeletal dysplasia v1.118 CCDC8 Louise Daugherty Added comment: Comment on publications: added publication to support gene-disease
Skeletal dysplasia v1.118 CCDC8 Louise Daugherty Publications for gene: CCDC8 were set to
Skeletal dysplasia v1.117 NOTCH1 Eleanor Williams Classified gene: NOTCH1 as Green List (high evidence)
Skeletal dysplasia v1.117 NOTCH1 Eleanor Williams Added comment: Comment on list classification: Rated as green as there are sufficient number of cases/families and Genomics England clinical team have reviewed as being relevant to this panel.
Skeletal dysplasia v1.117 NOTCH1 Eleanor Williams Gene: notch1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.116 SMOC1 Eleanor Williams Classified gene: SMOC1 as Green List (high evidence)
Skeletal dysplasia v1.116 SMOC1 Eleanor Williams Added comment: Comment on list classification: Rated green as sufficient number of cases/families. Reviewed by Genomics England clinical team as appropriate for this panel.
Skeletal dysplasia v1.116 SMOC1 Eleanor Williams Gene: smoc1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.115 SMOC1 Eleanor Williams gene: SMOC1 was added
gene: SMOC1 was added to Unexplained skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMOC1 were set to 21194678; 21194680
Phenotypes for gene: SMOC1 were set to Ophthalmo-acromelic syndrome; Microphthalmia with limb anomalies 206920; Polydactyly
Review for gene: SMOC1 was set to GREEN
Added comment: Sourced from Genetic Home Reference. >3 cases/family reports for homozygous loss of function variants in this gene, in affacted individuals with microphthalmia with limb anomalies (see publications). This is a confirmed DD gene for OPHTHALMOACROMELIC SYNDROME. HPO terms from Gene2Phenotype include
Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Hand oligodactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Toe syndactyly.
Sources: Expert Review
Skeletal dysplasia v1.114 NOTCH1 Eleanor Williams gene: NOTCH1 was added
gene: NOTCH1 was added to Unexplained skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH1 were set to 25132448; 25963545; 27077170; 25132448
Phenotypes for gene: NOTCH1 were set to Adams-Oliver syndrome 5, 616028; Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly); AOS; Limb, scalp and skull defects
Review for gene: NOTCH1 was set to GREEN
Added comment: There are more than three unrelated cases reported for variants in NOTCH1 causing Adams-Oliver type 5 syndrome
Sources: Expert Review
Skeletal dysplasia v1.113 DVL3 Sarah Leigh Publications for gene: DVL3 were set to PMID: 26924530
Skeletal dysplasia v1.113 DVL3 Sarah Leigh Classified gene: DVL3 as Green List (high evidence)
Skeletal dysplasia v1.113 DVL3 Sarah Leigh Gene: dvl3 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.112 DLL4 Sarah Leigh Publications for gene: DLL4 were set to PMID: 26299364
Skeletal dysplasia v1.111 DLL4 Sarah Leigh Classified gene: DLL4 as Green List (high evidence)
Skeletal dysplasia v1.111 DLL4 Sarah Leigh Gene: dll4 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.110 PDE3A Sarah Leigh Publications for gene: PDE3A were set to PMID: 25961942; 9696728
Skeletal dysplasia v1.110 PDE3A Sarah Leigh Classified gene: PDE3A as Green List (high evidence)
Skeletal dysplasia v1.110 PDE3A Sarah Leigh Gene: pde3a has been classified as Green List (High Evidence).
Skeletal dysplasia v1.109 DVL3 Rachel Jones gene: DVL3 was added
gene: DVL3 was added to Unexplained skeletal dysplasia. Sources: Other
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL3 were set to PMID: 26924530
Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3 616894
Penetrance for gene: DVL3 were set to unknown
Review for gene: DVL3 was set to GREEN
Added comment: Stittrich et al (PMID: 26924530 ) looked for variants in DVL3 in patients with Robinow syndrome and no previously identified mutation; because mutations had previously described in DVL1 and there was functional redundancy between the genes. They identified 4 de novo frameshift variants in their cohort of 17 patients.

Danyal et al (PMID: 29575616) identified a frame shift variant in a further patient with Robinow syndrome.
Sources: Other
Skeletal dysplasia v1.108 DLL4 Rachel Jones gene: DLL4 was added
gene: DLL4 was added to Unexplained skeletal dysplasia. Sources: Other
Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL4 were set to PMID: 26299364
Phenotypes for gene: DLL4 were set to Adams-Oliver syndrome 6 616589
Penetrance for gene: DLL4 were set to Incomplete
Review for gene: DLL4 was set to GREEN
Added comment: Meester et al PMID: 26299364 using candidate gene approach identified 9 heterozygous mutations in DLL4 (which is a NOTCH ligand) from 91 families - same pathway as other genes previously idetified to cause Adams Oliver syndrome.

No functional studies were performed, but software predicted pathogenicity of missense mutations.

Evidence of non penetrance in the paper - affected siblings inheriting mutation from seemingly unaffected parent.
Sources: Other
Skeletal dysplasia v1.107 PDE3A Rachel Jones gene: PDE3A was added
gene: PDE3A was added to Unexplained skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE3A were set to PMID: 25961942; 9696728
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome 112410
Penetrance for gene: PDE3A were set to Complete
Mode of pathogenicity for gene: PDE3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: PDE3A was set to GREEN
Added comment: Mutations appear to be gain of function missense as per PMID 25961942*. 6 missense variants identified in unrelated families with dominant hypertension with brachydactyly (HTNB)
*Article link https://www.nature.com/articles/ng.3302

The article PMID: 9696728 gives more information about the clinical phenotype - their Canadian and American families showed linkage to an area of chromosome 12p containing PDE3A, as had a previous Turkish family.
http://annals.org/aim/fullarticle/711593/families-autosomal-dominant-brachydactyly-type-e-short-stature-severe-hypertension.
Sources: Literature
Skeletal dysplasia v1.106 ARHGAP31 Eleanor Williams Publications for gene: ARHGAP31 were set to 21565291
Skeletal dysplasia v1.105 ARHGAP31 Eleanor Williams commented on gene: ARHGAP31
Skeletal dysplasia v1.105 ISCA-37418-Loss Louise Daugherty Region: ISCA-37418-Loss was added
Region: ISCA-37418-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders; Smith-Magenis syndrome; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; 182290; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities
Skeletal dysplasia v1.105 ISCA-37434-Loss Louise Daugherty Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to 17918734; 22766398; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to posteriorly rotated, low-set, abnormal ears; brachycephaly; epicanthus; heart defects; pointed chin; deep-set eyes; microcephaly; hypotonia; seizures; poor/absent speech; central nervous system anomalies; large anterior fontanels; microbrachycephaly; mental retardation; growth impairment; large, late-closing anterior fontanel; flat nose; nasal bridge; developmental delay; hearing impairment; distinct dysmorphic features; 1p36 deletion syndrome; 607872
Skeletal dysplasia v1.105 ISCA-37441-Loss Louise Daugherty Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to 15852040; 16319823; 20140962
Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome; multiple exostoses; biparietal foramina; intellectual disability; strabismus; minor craniofacial anomalies; myopia; ophthalmologic anomalies; 601224; mental retardation; enlarged anterior fontanel; genital abnormalities in males; parietal foramina; developmental delay
Skeletal dysplasia v1.105 ISCA-37394-Loss Louise Daugherty Region: ISCA-37394-Loss was added
Region: ISCA-37394-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37394-Loss were set to 25402011; 23188045
Phenotypes for Region: ISCA-37394-Loss were set to 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination; 600430
Skeletal dysplasia v1.105 ISCA-37406-Loss Louise Daugherty Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37406-Loss were set to 10573006; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543
Skeletal dysplasia C21orf2 Louise Daugherty commented on gene: C21orf2
Skeletal dysplasia MAP3K7 Helen Brittain marked gene: MAP3K7 as ready
Skeletal dysplasia MAP3K7 Helen Brittain classified MAP3K7 as Green List (high evidence)
Skeletal dysplasia MAP3K7 Helen Brittain Added gene to panel
Skeletal dysplasia ATXN10 Ellen McDonagh Added STR to panel
Skeletal dysplasia C2orf71 Louise Daugherty commented on gene: C2orf71
Skeletal dysplasia GREM1 Rachel Jones reviewed GREM1
Skeletal dysplasia SFRP4 Ellen McDonagh classified SFRP4 as Green List (high evidence)
Skeletal dysplasia SFRP4 Ellen McDonagh classified SFRP4 as Amber List (moderate evidence)
Skeletal dysplasia SFRP4 Ellen McDonagh Added gene to panel
Skeletal dysplasia FBLN1 Sarah Leigh classified FBLN1 as Amber List (moderate evidence)
Skeletal dysplasia FBLN1 Sarah Leigh edited their review of FBLN1
Skeletal dysplasia C5orf42 Louise Daugherty commented on C5orf42
Skeletal dysplasia MIR17HG Louise Daugherty classified MIR17HG as Amber List (moderate evidence)
Skeletal dysplasia MIR17HG Louise Daugherty commented on MIR17HG
Skeletal dysplasia MIR17HG Louise Daugherty edited their review of MIR17HG
Skeletal dysplasia MIR17HG Louise Daugherty edited their review of MIR17HG
Skeletal dysplasia LTBP3 Sarah Leigh classified LTBP3 as Green List (high evidence)
Skeletal dysplasia LTBP3 Sarah Leigh Added gene to panel
Skeletal dysplasia PRMT7 Helen Brittain marked PRMT7 as ready
Skeletal dysplasia PRMT7 Helen Brittain classified PRMT7 as Green List (high evidence)
Skeletal dysplasia PRMT7 Helen Brittain Added gene to panel
Skeletal dysplasia ASXL2 Sarah Leigh classified ASXL2 as Green List (high evidence)
Skeletal dysplasia ASXL2 Sarah Leigh Added gene to panel
Skeletal dysplasia RBPJ Louise Daugherty edited their review of RBPJ
Skeletal dysplasia RBPJ Louise Daugherty classified RBPJ as green
Skeletal dysplasia RBPJ Louise Daugherty classified RBPJ as amber
Skeletal dysplasia RBPJ Louise Daugherty commented on RBPJ
Skeletal dysplasia PUF60 Louise Daugherty classified PUF60 as green
Skeletal dysplasia PUF60 Louise Daugherty added PUF60 to panel
Skeletal dysplasia PUF60 Louise Daugherty reviewed PUF60
Skeletal dysplasia EXTL3 Ellen McDonagh classified EXTL3 as green
Skeletal dysplasia EXTL3 Ellen McDonagh added EXTL3 to panel
Skeletal dysplasia EXTL3 Ellen McDonagh reviewed EXTL3
Skeletal dysplasia EED Sarah Leigh classified EED as green
Skeletal dysplasia EED Sarah Leigh classified EED as green
Skeletal dysplasia EED Sarah Leigh added EED to panel
Skeletal dysplasia EED Sarah Leigh reviewed EED
Skeletal dysplasia GPC6 Sarah Leigh edited their review of GPC6
Skeletal dysplasia GZF1 Sarah Leigh classified GZF1 as green
Skeletal dysplasia GZF1 Sarah Leigh added GZF1 to panel
Skeletal dysplasia GZF1 Sarah Leigh reviewed GZF1
Skeletal dysplasia MCM5 Sarah Leigh added MCM5 to panel
Skeletal dysplasia MCM5 Sarah Leigh reviewed MCM5
Skeletal dysplasia YY1 Sarah Leigh classified YY1 as green
Skeletal dysplasia YY1 Sarah Leigh added YY1 to panel
Skeletal dysplasia YY1 Sarah Leigh reviewed YY1
Skeletal dysplasia DACT1 Louise Daugherty added DACT1 to panel
Skeletal dysplasia DACT1 Louise Daugherty reviewed DACT1
Skeletal dysplasia DCC Sarah Leigh classified DCC as amber
Skeletal dysplasia DCC Sarah Leigh classified DCC as amber
Skeletal dysplasia DCC Sarah Leigh added DCC to panel
Skeletal dysplasia DCC Sarah Leigh reviewed DCC
Skeletal dysplasia CTSK Ellen McDonagh commented on CTSK
Skeletal dysplasia FAM58A Louise Daugherty commented on FAM58A
Skeletal dysplasia GNAS Helen Brittain commented on GNAS
Skeletal dysplasia HNRNPK Ellen McDonagh classified HNRNPK as amber
Skeletal dysplasia HNRNPK Ellen McDonagh classified HNRNPK as amber
Skeletal dysplasia HNRNPK Ellen McDonagh added HNRNPK to panel
Skeletal dysplasia HNRNPK Ellen McDonagh reviewed HNRNPK
Skeletal dysplasia IFT52 Arianna Tucci classified IFT52 as green
Skeletal dysplasia IFT52 Arianna Tucci classified IFT52 as green
Skeletal dysplasia IFT81 Arianna Tucci classified IFT81 as green
Skeletal dysplasia IFT81 Arianna Tucci added IFT81 to panel
Skeletal dysplasia IFT81 Arianna Tucci reviewed IFT81
Skeletal dysplasia IFT52 Arianna Tucci added IFT52 to panel
Skeletal dysplasia IFT52 Arianna Tucci reviewed IFT52
Skeletal dysplasia IFT43 Arianna Tucci marked IFT43 as ready
Skeletal dysplasia IFT43 Arianna Tucci commented on IFT43
Skeletal dysplasia IFT43 Arianna Tucci classified IFT43 as green
Skeletal dysplasia DYNC2LI1 Arianna Tucci marked DYNC2LI1 as ready
Skeletal dysplasia DYNC2LI1 Arianna Tucci classified DYNC2LI1 as green
Skeletal dysplasia DYNC2LI1 Arianna Tucci classified DYNC2LI1 as green
Skeletal dysplasia DYNC2LI1 Arianna Tucci classified DYNC2LI1 as green
Skeletal dysplasia DYNC2LI1 Arianna Tucci added DYNC2LI1 to panel
Skeletal dysplasia DYNC2LI1 Arianna Tucci reviewed DYNC2LI1
Skeletal dysplasia CSPP1 Arianna Tucci classified CSPP1 as green
Skeletal dysplasia CSPP1 Arianna Tucci added CSPP1 to panel
Skeletal dysplasia CSPP1 Arianna Tucci reviewed CSPP1
Skeletal dysplasia FAM111A Louise Daugherty commented on FAM111A
Skeletal dysplasia TCTEX1D2 Helen Brittain marked TCTEX1D2 as ready
Skeletal dysplasia TCTEX1D2 Helen Brittain classified TCTEX1D2 as green
Skeletal dysplasia TCTEX1D2 Helen Brittain added TCTEX1D2 to panel
Skeletal dysplasia TCTEX1D2 Helen Brittain reviewed TCTEX1D2
Skeletal dysplasia POP1 Rebecca Foulger classified POP1 as green
Skeletal dysplasia POP1 Rebecca Foulger classified POP1 as green
Skeletal dysplasia POP1 Rebecca Foulger commented on POP1
Skeletal dysplasia POP1 Rebecca Foulger commented on POP1
Skeletal dysplasia POP1 Rebecca Foulger edited their review of POP1
Skeletal dysplasia NANS Helen Brittain marked NANS as ready
Skeletal dysplasia NANS Helen Brittain classified NANS as green
Skeletal dysplasia NANS Helen Brittain classified NANS as green
Skeletal dysplasia NANS Helen Brittain added NANS to panel
Skeletal dysplasia NANS Helen Brittain reviewed NANS
Skeletal dysplasia POP1 Rebecca Foulger commented on POP1
Skeletal dysplasia PIGT Sarah Leigh classified PIGT as green
Skeletal dysplasia PIGT Sarah Leigh classified PIGT as green
Skeletal dysplasia VAC14 Rebecca Foulger commented on VAC14
Skeletal dysplasia VAC14 Rebecca Foulger added VAC14 to panel
Skeletal dysplasia VAC14 Rebecca Foulger reviewed VAC14
Skeletal dysplasia FGF9 Sarah Leigh edited their review of FGF9
Skeletal dysplasia FGF9 Sarah Leigh classified FGF9 as red
Skeletal dysplasia FBXW4 Sarah Leigh classified FBXW4 as red
Skeletal dysplasia OFD1 Ellen McDonagh commented on OFD1
Skeletal dysplasia NSDHL Ellen McDonagh commented on NSDHL
Skeletal dysplasia FLNA Ellen McDonagh commented on FLNA
Skeletal dysplasia SHFM1 Louise Daugherty commented on SHFM1
Skeletal dysplasia SHFM1 Louise Daugherty classified SHFM1 as red
Skeletal dysplasia RNU4ATAC Ellen McDonagh commented on RNU4ATAC
Skeletal dysplasia RMRP Ellen McDonagh commented on RMRP
Skeletal dysplasia MIR17HG Ellen McDonagh commented on MIR17HG
Skeletal dysplasia DFNB31 Louise Daugherty commented on DFNB31
Skeletal dysplasia SHFM1 Louise Daugherty commented on SHFM1
Skeletal dysplasia ATXN10 Ellen McDonagh commented on ATXN10
Skeletal dysplasia Sarah Leigh promoted panel to version 1
Skeletal dysplasia IDH1 Sarah Leigh classified IDH1 as green
Skeletal dysplasia SNX10 Sarah Leigh classified SNX10 as green
Skeletal dysplasia PEX5 Sarah Leigh classified PEX5 as green
Skeletal dysplasia CREBBP Sarah Leigh marked CREBBP as ready
Skeletal dysplasia CREBBP Sarah Leigh commented on CREBBP
Skeletal dysplasia CREBBP Sarah Leigh classified CREBBP as green
Skeletal dysplasia ALG9 Sarah Leigh classified ALG9 as green
Skeletal dysplasia COL9A1 Sarah Leigh classified COL9A1 as green
Skeletal dysplasia ACAN Sarah Leigh classified ACAN as green
Skeletal dysplasia SHFM1 Sarah Leigh classified SHFM1 as grey
Skeletal dysplasia USP9X Ana Beleza reviewed USP9X
Skeletal dysplasia LOXL3 Sarah Leigh marked LOXL3 as ready
Skeletal dysplasia LOXL3 Sarah Leigh commented on LOXL3
Skeletal dysplasia DOLPP1 Sarah Leigh marked DOLPP1 as ready
Skeletal dysplasia DOLPP1 Sarah Leigh commented on DOLPP1
Skeletal dysplasia RAB33B Sarah Leigh classified RAB33B as red
Skeletal dysplasia RAB33B Sarah Leigh classified RAB33B as red
Skeletal dysplasia ZBTB16 Sarah Leigh marked ZBTB16 as ready
Skeletal dysplasia ZBTB16 Sarah Leigh commented on ZBTB16
Skeletal dysplasia XYLT2 Sarah Leigh marked XYLT2 as ready
Skeletal dysplasia XYLT2 Sarah Leigh commented on XYLT2
Skeletal dysplasia XYLT2 Sarah Leigh classified XYLT2 as green
Skeletal dysplasia XRCC4 Sarah Leigh commented on XRCC4
Skeletal dysplasia XRCC4 Sarah Leigh marked XRCC4 as ready
Skeletal dysplasia XRCC4 Sarah Leigh classified XRCC4 as green
Skeletal dysplasia WNT10B Sarah Leigh marked WNT10B as ready
Skeletal dysplasia WNT10B Sarah Leigh commented on WNT10B
Skeletal dysplasia WNT10B Sarah Leigh classified WNT10B as green
Skeletal dysplasia TWIST1 Sarah Leigh marked TWIST1 as ready
Skeletal dysplasia TWIST1 Sarah Leigh commented on TWIST1
Skeletal dysplasia TWIST1 Sarah Leigh classified TWIST1 as green
Skeletal dysplasia TMEM231 Sarah Leigh marked TMEM231 as ready
Skeletal dysplasia TMEM231 Sarah Leigh commented on TMEM231
Skeletal dysplasia TMEM165 Sarah Leigh marked TMEM165 as ready
Skeletal dysplasia TMEM165 Sarah Leigh commented on TMEM165
Skeletal dysplasia TGFBR2 Sarah Leigh marked TGFBR2 as ready
Skeletal dysplasia TGFBR2 Sarah Leigh commented on TGFBR2
Skeletal dysplasia TGFBR1 Sarah Leigh marked TGFBR1 as ready
Skeletal dysplasia TGFBR1 Sarah Leigh commented on TGFBR1
Skeletal dysplasia TGFB2 Sarah Leigh marked TGFB2 as ready
Skeletal dysplasia TGFB2 Sarah Leigh commented on TGFB2
Skeletal dysplasia TERT Sarah Leigh marked TERT as ready
Skeletal dysplasia TERT Sarah Leigh classified TERT as green
Skeletal dysplasia TERT Sarah Leigh classified TERT as green
Skeletal dysplasia TERT Sarah Leigh commented on TERT
Skeletal dysplasia TCTN2 Sarah Leigh marked TCTN2 as ready
Skeletal dysplasia TCTN2 Sarah Leigh commented on TCTN2
Skeletal dysplasia TCOF1 Sarah Leigh commented on TCOF1
Skeletal dysplasia TCOF1 Sarah Leigh marked TCOF1 as ready
Skeletal dysplasia TBX4 Sarah Leigh marked TBX4 as ready
Skeletal dysplasia TBX4 Sarah Leigh commented on TBX4
Skeletal dysplasia TBX4 Sarah Leigh classified TBX4 as green
Skeletal dysplasia TALDO1 Sarah Leigh marked TALDO1 as ready
Skeletal dysplasia TALDO1 Sarah Leigh commented on TALDO1
Skeletal dysplasia TALDO1 Sarah Leigh classified TALDO1 as green
Skeletal dysplasia SUMF1 Sarah Leigh marked SUMF1 as ready
Skeletal dysplasia SUMF1 Sarah Leigh commented on SUMF1
Skeletal dysplasia SPECC1L Sarah Leigh marked SPECC1L as ready
Skeletal dysplasia SPECC1L Sarah Leigh commented on SPECC1L
Skeletal dysplasia SPARC Sarah Leigh marked SPARC as ready
Skeletal dysplasia SNX10 Sarah Leigh marked SNX10 as ready
Skeletal dysplasia SNX10 Sarah Leigh commented on SNX10
Skeletal dysplasia SNX10 Sarah Leigh classified SNX10 as red
Skeletal dysplasia SNRPB Sarah Leigh marked SNRPB as ready
Skeletal dysplasia SNRPB Sarah Leigh commented on SNRPB
Skeletal dysplasia SNRPB Sarah Leigh classified SNRPB as green
Skeletal dysplasia SMC3 Sarah Leigh marked SMC3 as ready
Skeletal dysplasia SMC3 Sarah Leigh commented on SMC3
Skeletal dysplasia SMC1A Sarah Leigh marked SMC1A as ready
Skeletal dysplasia SMC1A Sarah Leigh commented on SMC1A
Skeletal dysplasia SMAD3 Sarah Leigh marked SMAD3 as ready
Skeletal dysplasia SMAD3 Sarah Leigh commented on SMAD3