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Fetal anomalies v1.835 USP18 Arina Puzriakova Source Expert Review Green was added to USP18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 UBE2T Arina Puzriakova Source Expert Review Green was added to UBE2T.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TXNDC15 Arina Puzriakova Source Expert Review Green was added to TXNDC15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TUBGCP4 Arina Puzriakova Source Expert Review Green was added to TUBGCP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TUBG1 Arina Puzriakova Source Expert Review Green was added to TUBG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TUBB3 Arina Puzriakova Source Expert Review Green was added to TUBB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TSFM Arina Puzriakova Source Expert Review Green was added to TSFM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TSEN34 Arina Puzriakova Source Expert Review Green was added to TSEN34.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TSEN2 Arina Puzriakova Source Expert Review Green was added to TSEN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TRMT10A Arina Puzriakova Source Expert Review Green was added to TRMT10A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TRAPPC12 Arina Puzriakova Source Expert Review Green was added to TRAPPC12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TRAP1 Arina Puzriakova Source Expert Review Green was added to TRAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TRAIP Arina Puzriakova Source Expert Review Green was added to TRAIP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TRAF3IP1 Arina Puzriakova Source Expert Review Green was added to TRAF3IP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TOR1A Arina Puzriakova Source Expert Review Green was added to TOR1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TOE1 Arina Puzriakova Source Expert Review Green was added to TOE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TNNT3 Arina Puzriakova Source Expert Review Green was added to TNNT3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TMX2 Arina Puzriakova Source Expert Review Green was added to TMX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TMEM98 Arina Puzriakova Source Expert Review Green was added to TMEM98.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TMEM38B Arina Puzriakova Source Expert Review Green was added to TMEM38B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TMEM216 Arina Puzriakova Source Expert Review Green was added to TMEM216.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TMEM107 Arina Puzriakova Source Expert Review Green was added to TMEM107.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TENM3 Arina Puzriakova Source Expert Review Green was added to TENM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TELO2 Arina Puzriakova Source Expert Review Green was added to TELO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TCTEX1D2 Arina Puzriakova Source Expert Review Green was added to TCTEX1D2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TBC1D32 Arina Puzriakova Source Expert Review Green was added to TBC1D32.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SULT2B1 Arina Puzriakova Source Expert Review Green was added to SULT2B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SUFU Arina Puzriakova Source Expert Review Green was added to SUFU.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 STRADA Arina Puzriakova Source Expert Review Green was added to STRADA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 STIL Arina Puzriakova Source Expert Review Green was added to STIL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 STAC3 Arina Puzriakova Source Expert Review Green was added to STAC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ST14 Arina Puzriakova Source Expert Review Green was added to ST14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SPECC1L Arina Puzriakova Source Expert Review Green was added to SPECC1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SPARC Arina Puzriakova Source Expert Review Green was added to SPARC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SP7 Arina Puzriakova Source Expert Review Green was added to SP7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SOX6 Arina Puzriakova Source Expert Review Green was added to SOX6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SOX18 Arina Puzriakova Source Expert Review Green was added to SOX18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SNX10 Arina Puzriakova Source Expert Review Green was added to SNX10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SMS Arina Puzriakova Source Expert Review Green was added to SMS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SMPD4 Arina Puzriakova Source Expert Review Green was added to SMPD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SMG9 Arina Puzriakova Source Expert Review Green was added to SMG9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SMARCE1 Arina Puzriakova Source Expert Review Green was added to SMARCE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SMARCC1 Arina Puzriakova Source Expert Review Green was added to SMARCC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SLC6A9 Arina Puzriakova Source Expert Review Green was added to SLC6A9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SLC5A7 Arina Puzriakova Source Expert Review Green was added to SLC5A7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SLC29A3 Arina Puzriakova Source Expert Review Green was added to SLC29A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SLC25A19 Arina Puzriakova Source Expert Review Green was added to SLC25A19.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SLC18A3 Arina Puzriakova Source Expert Review Green was added to SLC18A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SIX6 Arina Puzriakova Source Expert Review Green was added to SIX6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SHANK3 Arina Puzriakova Source Expert Review Green was added to SHANK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SGCG Arina Puzriakova Source Expert Review Green was added to SGCG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SERPINH1 Arina Puzriakova Source Expert Review Green was added to SERPINH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SERPINF1 Arina Puzriakova Source Expert Review Green was added to SERPINF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SEC24D Arina Puzriakova Source Expert Review Green was added to SEC24D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SDR9C7 Arina Puzriakova Source Expert Review Green was added to SDR9C7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SCN1A Arina Puzriakova Source Expert Review Green was added to SCN1A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v1.835 SCLT1 Arina Puzriakova Source Expert Review Green was added to SCLT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RSPH9 Arina Puzriakova Source Expert Review Green was added to RSPH9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RSPH4A Arina Puzriakova Source Expert Review Green was added to RSPH4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RRAS2 Arina Puzriakova Source Expert Review Green was added to RRAS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RPS7 Arina Puzriakova Source Expert Review Green was added to RPS7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RPS24 Arina Puzriakova Source Expert Review Green was added to RPS24.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RPL35A Arina Puzriakova Source Expert Review Green was added to RPL35A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RPL10 Arina Puzriakova Source Expert Review Green was added to RPL10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ROBO3 Arina Puzriakova Source Expert Review Green was added to ROBO3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RFT1 Arina Puzriakova Source Expert Review Green was added to RFT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RBM10 Arina Puzriakova Source Expert Review Green was added to RBM10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RBBP8 Arina Puzriakova Source Expert Review Green was added to RBBP8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RAB33B Arina Puzriakova Source Expert Review Green was added to RAB33B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PYGM Arina Puzriakova Source Expert Review Green was added to PYGM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PTPN14 Arina Puzriakova Source Expert Review Green was added to PTPN14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PSAT1 Arina Puzriakova Source Expert Review Green was added to PSAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PRUNE1 Arina Puzriakova Source Expert Review Green was added to PRUNE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PRKAG2 Arina Puzriakova Source Expert Review Green was added to PRKAG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PRIM1 Arina Puzriakova Source Expert Review Green was added to PRIM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 POP1 Arina Puzriakova Source Expert Review Green was added to POP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 POLR1B Arina Puzriakova Source Expert Review Green was added to POLR1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 POLR1A Arina Puzriakova Source Expert Review Green was added to POLR1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 POLG2 Arina Puzriakova Source Expert Review Green was added to POLG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 POLE Arina Puzriakova Source Expert Review Green was added to POLE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PNPLA1 Arina Puzriakova Source Expert Review Green was added to PNPLA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PLG Arina Puzriakova Source Expert Review Green was added to PLG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PLAG1 Arina Puzriakova Source Expert Review Green was added to PLAG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PITX1 Arina Puzriakova Source Expert Review Green was added to PITX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PIK3C2A Arina Puzriakova Source Expert Review Green was added to PIK3C2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PIH1D3 Arina Puzriakova Source Expert Review Green was added to PIH1D3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PIGN Arina Puzriakova Source Expert Review Green was added to PIGN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PIBF1 Arina Puzriakova Source Expert Review Green was added to PIBF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PGM3 Arina Puzriakova Source Expert Review Green was added to PGM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PFKM Arina Puzriakova Source Expert Review Green was added to PFKM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PBX1 Arina Puzriakova Source Expert Review Green was added to PBX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PAX7 Arina Puzriakova Source Expert Review Green was added to PAX7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 P4HB Arina Puzriakova Source Expert Review Green was added to P4HB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 OSGEP Arina Puzriakova Source Expert Review Green was added to OSGEP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NXN Arina Puzriakova Source Expert Review Green was added to NXN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NIPAL4 Arina Puzriakova Source Expert Review Green was added to NIPAL4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NEK8 Arina Puzriakova Source Expert Review Green was added to NEK8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NEDD4L Arina Puzriakova Source Expert Review Green was added to NEDD4L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NECTIN1 Arina Puzriakova Source Expert Review Green was added to NECTIN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NADSYN1 Arina Puzriakova Source Expert Review Green was added to NADSYN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYPN Arina Puzriakova Source Expert Review Green was added to MYPN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYOCD Arina Puzriakova Source Expert Review Green was added to MYOCD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYO9A Arina Puzriakova Source Expert Review Green was added to MYO9A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYO18B Arina Puzriakova Source Expert Review Green was added to MYO18B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYMK Arina Puzriakova Source Expert Review Green was added to MYMK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYL1 Arina Puzriakova Source Expert Review Green was added to MYL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYH7 Arina Puzriakova Source Expert Review Green was added to MYH7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYH2 Arina Puzriakova Source Expert Review Green was added to MYH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MSTO1 Arina Puzriakova Source Expert Review Green was added to MSTO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MSMO1 Arina Puzriakova Source Expert Review Green was added to MSMO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MRAS Arina Puzriakova Source Expert Review Green was added to MRAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MOGS Arina Puzriakova Source Expert Review Green was added to MOGS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MN1 Arina Puzriakova Source Expert Review Green was added to MN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MESD Arina Puzriakova Source Expert Review Green was added to MESD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MEOX1 Arina Puzriakova Source Expert Review Green was added to MEOX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MEIS2 Arina Puzriakova Source Expert Review Green was added to MEIS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MAP3K7 Arina Puzriakova Source Expert Review Green was added to MAP3K7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MAP3K20 Arina Puzriakova Source Expert Review Green was added to MAP3K20.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MACF1 Arina Puzriakova Source Expert Review Green was added to MACF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 LRRC56 Arina Puzriakova Source Expert Review Green was added to LRRC56.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 LONP1 Arina Puzriakova Source Expert Review Green was added to LONP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 LMNB2 Arina Puzriakova Source Expert Review Green was added to LMNB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 LMNB1 Arina Puzriakova Source Expert Review Green was added to LMNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 LAMB1 Arina Puzriakova Source Expert Review Green was added to LAMB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KNL1 Arina Puzriakova Source Expert Review Green was added to KNL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KLHL7 Arina Puzriakova Source Expert Review Green was added to KLHL7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KIF5C Arina Puzriakova Source Expert Review Green was added to KIF5C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KIF2A Arina Puzriakova Source Expert Review Green was added to KIF2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KIF14 Arina Puzriakova Source Expert Review Green was added to KIF14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KIAA0753 Arina Puzriakova Source Expert Review Green was added to KIAA0753.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KATNB1 Arina Puzriakova Source Expert Review Green was added to KATNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ITGA8 Arina Puzriakova Source Expert Review Green was added to ITGA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 IFT81 Arina Puzriakova Source Expert Review Green was added to IFT81.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 IFT52 Arina Puzriakova Source Expert Review Green was added to IFT52.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 IDH1 Arina Puzriakova Source Expert Review Green was added to IDH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ICK Arina Puzriakova Source Expert Review Green was added to ICK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 HMGA2 Arina Puzriakova Source Expert Review Green was added to HMGA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 HIST1H1E Arina Puzriakova Source Expert Review Green was added to HIST1H1E.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 HESX1 Arina Puzriakova Source Expert Review Green was added to HESX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 HADHB Arina Puzriakova Source Expert Review Green was added to HADHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GZF1 Arina Puzriakova Source Expert Review Green was added to GZF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GSC Arina Puzriakova Source Expert Review Green was added to GSC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GREB1L Arina Puzriakova Source Expert Review Green was added to GREB1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GPC6 Arina Puzriakova Source Expert Review Green was added to GPC6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GMNN Arina Puzriakova Source Expert Review Green was added to GMNN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GLI1 Arina Puzriakova Source Expert Review Green was added to GLI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GFPT1 Arina Puzriakova Source Expert Review Green was added to GFPT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GATA3 Arina Puzriakova Source Expert Review Green was added to GATA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GANAB Arina Puzriakova Source Expert Review Green was added to GANAB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GALNT2 Arina Puzriakova Source Expert Review Green was added to GALNT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FZD2 Arina Puzriakova Source Expert Review Green was added to FZD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FUT8 Arina Puzriakova Source Expert Review Green was added to FUT8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FLNC Arina Puzriakova Source Expert Review Green was added to FLNC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FKBP10 Arina Puzriakova Source Expert Review Green was added to FKBP10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FIG4 Arina Puzriakova Source Expert Review Green was added to FIG4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FANCL Arina Puzriakova Source Expert Review Green was added to FANCL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FAM46A Arina Puzriakova Source Expert Review Green was added to FAM46A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EXTL3 Arina Puzriakova Source Expert Review Green was added to EXTL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EXOC3L2 Arina Puzriakova Source Expert Review Green was added to EXOC3L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ENPP1 Arina Puzriakova Source Expert Review Green was added to ENPP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EMX2 Arina Puzriakova Source Expert Review Green was added to EMX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EML1 Arina Puzriakova Source Expert Review Green was added to EML1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EIF5A Arina Puzriakova Source Expert Review Green was added to EIF5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EIF2S3 Arina Puzriakova Source Expert Review Green was added to EIF2S3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EED Arina Puzriakova Source Expert Review Green was added to EED.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DZIP1L Arina Puzriakova Source Expert Review Green was added to DZIP1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DYNC2LI1 Arina Puzriakova Source Expert Review Green was added to DYNC2LI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DPM3 Arina Puzriakova Source Expert Review Green was added to DPM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DPM2 Arina Puzriakova Source Expert Review Green was added to DPM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DONSON Arina Puzriakova Source Expert Review Green was added to DONSON.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNM2 Arina Puzriakova Source Expert Review Green was added to DNM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNM1L Arina Puzriakova Source Expert Review Green was added to DNM1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNAL1 Arina Puzriakova Source Expert Review Green was added to DNAL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNAJB11 Arina Puzriakova Source Expert Review Green was added to DNAJB11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNAI2 Arina Puzriakova Source Expert Review Green was added to DNAI2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNAAF5 Arina Puzriakova Source Expert Review Green was added to DNAAF5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNAAF2 Arina Puzriakova Source Expert Review Green was added to DNAAF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DLX5 Arina Puzriakova Source Expert Review Green was added to DLX5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DISP1 Arina Puzriakova Source Expert Review Green was added to DISP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DIAPH1 Arina Puzriakova Source Expert Review Green was added to DIAPH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DENND5A Arina Puzriakova Source Expert Review Green was added to DENND5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DDX59 Arina Puzriakova Source Expert Review Green was added to DDX59.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CYP4F22 Arina Puzriakova Source Expert Review Green was added to CYP4F22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CYP26B1 Arina Puzriakova Source Expert Review Green was added to CYP26B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CTU2 Arina Puzriakova Source Expert Review Green was added to CTU2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CTNND1 Arina Puzriakova Source Expert Review Green was added to CTNND1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CSF1R Arina Puzriakova Source Expert Review Green was added to CSF1R.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CRIPT Arina Puzriakova Source Expert Review Green was added to CRIPT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CREB3L1 Arina Puzriakova Source Expert Review Green was added to CREB3L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CRADD Arina Puzriakova Source Expert Review Green was added to CRADD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COLQ Arina Puzriakova Source Expert Review Green was added to COLQ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COLEC10 Arina Puzriakova Source Expert Review Green was added to COLEC10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COL13A1 Arina Puzriakova Source Expert Review Green was added to COL13A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COL12A1 Arina Puzriakova Source Expert Review Green was added to COL12A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COG6 Arina Puzriakova Source Expert Review Green was added to COG6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COG5 Arina Puzriakova Source Expert Review Green was added to COG5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CLP1 Arina Puzriakova Source Expert Review Green was added to CLP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CIT Arina Puzriakova Source Expert Review Green was added to CIT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CHRNE Arina Puzriakova Source Expert Review Green was added to CHRNE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CHRNB1 Arina Puzriakova Source Expert Review Green was added to CHRNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CHRNA3 Arina Puzriakova Source Expert Review Green was added to CHRNA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CHMP1A Arina Puzriakova Source Expert Review Green was added to CHMP1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CFL2 Arina Puzriakova Source Expert Review Green was added to CFL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CERS3 Arina Puzriakova Source Expert Review Green was added to CERS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CEP63 Arina Puzriakova Source Expert Review Green was added to CEP63.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CEP55 Arina Puzriakova Source Expert Review Green was added to CEP55.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CEP135 Arina Puzriakova Source Expert Review Green was added to CEP135.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CENPF Arina Puzriakova Source Expert Review Green was added to CENPF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CELSR1 Arina Puzriakova Source Expert Review Green was added to CELSR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CDK8 Arina Puzriakova Source Expert Review Green was added to CDK8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CDK5RAP2 Arina Puzriakova Source Expert Review Green was added to CDK5RAP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CCDC88C Arina Puzriakova Source Expert Review Green was added to CCDC88C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CCDC8 Arina Puzriakova Source Expert Review Green was added to CCDC8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CCDC151 Arina Puzriakova Source Expert Review Green was added to CCDC151.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CASR Arina Puzriakova Source Expert Review Green was added to CASR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CANT1 Arina Puzriakova Source Expert Review Green was added to CANT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CACNA1G Arina Puzriakova Source Expert Review Green was added to CACNA1G.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 C2CD3 Arina Puzriakova Source Expert Review Green was added to C2CD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 C21orf59 Arina Puzriakova Source Expert Review Green was added to C21orf59.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 BNC2 Arina Puzriakova Source Expert Review Green was added to BNC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 B9D2 Arina Puzriakova Source Expert Review Green was added to B9D2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 B4GAT1 Arina Puzriakova Source Expert Review Green was added to B4GAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 B3GALNT2 Arina Puzriakova Source Expert Review Green was added to B3GALNT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ATR Arina Puzriakova Source Expert Review Green was added to ATR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ATP1A2 Arina Puzriakova Source Expert Review Green was added to ATP1A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ARHGAP29 Arina Puzriakova Source Expert Review Green was added to ARHGAP29.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ARFGEF2 Arina Puzriakova Source Expert Review Green was added to ARFGEF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ANTXR2 Arina Puzriakova Source Expert Review Green was added to ANTXR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ANKS6 Arina Puzriakova Source Expert Review Green was added to ANKS6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 AMMECR1 Arina Puzriakova Source Expert Review Green was added to AMMECR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 AMACR Arina Puzriakova Source Expert Review Green was added to AMACR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ALOXE3 Arina Puzriakova Source Expert Review Green was added to ALOXE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ALOX12B Arina Puzriakova Source Expert Review Green was added to ALOX12B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ALG9 Arina Puzriakova Source Expert Review Green was added to ALG9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ALG2 Arina Puzriakova Source Expert Review Green was added to ALG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 AKT2 Arina Puzriakova Source Expert Review Green was added to AKT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 AHCY Arina Puzriakova Source Expert Review Green was added to AHCY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ADAMTS3 Arina Puzriakova Source Expert Review Green was added to ADAMTS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ABL1 Arina Puzriakova Source Expert Review Green was added to ABL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.834 LTBP3 Eleanor Williams Added comment: Comment on mode of inheritance: Recommending that the mode of inheritance should be updated to Both mono- and bi-allelic as relevant phenotypes associated with this gene are associated with both mono (geleophysic dysplasia) and biallelic (dental anomalies and short stature) variants.
Fetal anomalies v1.834 LTBP3 Eleanor Williams Mode of inheritance for gene: LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.833 LTBP3 Eleanor Williams Tag Q1_22_MOI tag was added to gene: LTBP3.
Fetal anomalies v1.833 POU1F1 Arina Puzriakova Phenotypes for gene: POU1F1 were changed from POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY to Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038
Fetal anomalies v1.832 KCNE1 Arina Puzriakova Phenotypes for gene: KCNE1 were changed from JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 to Jervell and Lange-Nielsen syndrome 2, OMIM:612347
Fetal anomalies v1.831 HSF4 Arina Puzriakova Tag Q1_22_MOI tag was added to gene: HSF4.
Fetal anomalies v1.831 HSF4 Arina Puzriakova Publications for gene: HSF4 were set to
Fetal anomalies v1.830 HSF4 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' only to 'Both mono- and biallelic'. The expanded MOI is based on autosomal recessive cataract cases in PMID:19014451; 24045990; 26490182.
Fetal anomalies v1.830 HSF4 Arina Puzriakova Mode of inheritance for gene: HSF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.829 HSF4 Arina Puzriakova Phenotypes for gene: HSF4 were changed from CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE to Cataract 5, multiple types, OMIM:116800
Fetal anomalies v1.828 KLF1 Arina Puzriakova Phenotypes for gene: KLF1 were changed from ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; Hydrops Fetalis to Dyserythropoietic anemia, congenital, type IV, OMIM:613673; Hydrops Fetalis
Fetal anomalies v1.827 RAC3 Rhiannon Mellis gene: RAC3 was added
gene: RAC3 was added to Fetal anomalies. Sources: Literature,Expert Review,NHS GMS
Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAC3 were set to 30293988; 29276006
Phenotypes for gene: RAC3 were set to Abnormality of brain morphology; Abnormal muscle tone; Neurodevelopmental delay; Intellectual disability
Mode of pathogenicity for gene: RAC3 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: RAC3 was set to GREEN
Added comment: This gene already has sufficient evidence for Green rating on the ID panel (see below) and now adding evidence (from NHS GMS testing) for prenatal phenotype to support Green rating for the Fetal Anomalies panel also: A RAC3 likely pathogenic missense variant has been identified postnatally in a baby that presented prenatally with absent corpus callosum, bilateral ventriculomegaly, cerebellar and brainstem hypoplasia detected on fetal ultrasound and MRI. The variant is judged by the child's clinical team to be causative of the clinical and radiological features in the child.

Copied from Green review on Intellectual Disability panel by Konstantinos Varvagiannis:

PMID: 30293988 reports on 5 individuals (from 4 different families) with de novo missense variants in RAC3. All individuals demonstrated structural anomalies on brain MRI (notably agenesis/dysgenesis of the corpus callosum, variable degrees of polymicrogyria and ventricular anomalies) as well as shared non-specific neurological features including abnormal muscular tone, global developmental delay and severe to profound intellectual disability. Feeding difficulties were observed in 4/5 patients.

All variants reported are missense and are presumed to result in constitutive protein activation, as suggested by previous observations either in RAC3 [eg. the p.(Gln61Leu) mutation] or the highly homologous RAC1 and RAC2. According to the authors this is further supported by the fact that Rac3 -/- mice do not show a severe phenotype while missense variants are underrepresented in the ExAC database (z=1.97) as opposed to loss-of-function variants (pLI=0.04 / probability of loss-of-function intolerance).

Of the 3 SNVs reported, 2 variants were in adjacent amino-acid positions [p.(Gln61Leu) and p.(Glu62Lys)]. The latter variant was found in 2 half-sibs born to different fathers, due to suspected maternal gonadal mosaicism (variant absent in all sequencing reads in the maternal DNA sample). The specific variant was also found in a further affected individual from an unrelated family.

Finally, as the authors point out a further individual with de novo RAC3 missense variant [p.(Ala59Gly)] was reported previously in an individual with thin corpus callosum and global developmental delay, although the phenotype was felt to be more reminiscent of Robinow syndrome (PMID: 29276006).
Sources: Literature, Expert Review, NHS GMS
Fetal anomalies v1.827 ANTXR1 Arina Puzriakova Phenotypes for gene: ANTXR1 were changed from GAPO SYNDROME to GAPO syndrome, OMIM:230740
Fetal anomalies v1.826 MYL9 Zornitza Stark changed review comment from: unrelated families

Possibly 4th in PMID: 33264186 but specifics including genotype were lacking and overlapping institute/hospital as PMID: 33031641; to: Three unrelated families

Possibly 4th in PMID: 33264186 but specifics including genotype were lacking and overlapping institute/hospital as PMID: 33031641
Fetal anomalies v1.826 MYL9 Zornitza Stark edited their review of gene: MYL9: Added comment: unrelated families

Possibly 4th in PMID: 33264186 but specifics including genotype were lacking and overlapping institute/hospital as PMID: 33031641; Changed rating: GREEN; Changed publications to: 29453416, 33031641, 32621347, 33264186; Changed phenotypes to: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365
Fetal anomalies v1.826 CDX2 Dmitrijs Rots gene: CDX2 was added
gene: CDX2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CDX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDX2 were set to PMID: 34671974
Phenotypes for gene: CDX2 were set to Multiple congenital anomalies
Penetrance for gene: CDX2 were set to unknown
Review for gene: CDX2 was set to GREEN
Added comment: Multiple patients reported and summarized in PMID: 34671974 with multiple congenital anomalies, including patients with VACTERL-like phenotype.
Sources: Literature
Fetal anomalies v1.826 CNBP Arina Puzriakova commented on gene: CNBP: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. Confirmed with Rhiannon Mellis (GOSH) that the CNBP gene should remain as Red.
Fetal anomalies v1.826 CPT2 Arina Puzriakova Phenotypes for gene: CPT2 were changed from CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836; Myopathy due to CPT II deficiency 255110 to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836
Fetal anomalies v1.825 PSMB8 Arina Puzriakova Phenotypes for gene: PSMB8 were changed from NAKAJO SYNDROME to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Fetal anomalies v1.824 OTULIN Arina Puzriakova Phenotypes for gene: OTULIN were changed from Otulin-related auto inflammatory syndrome to Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Fetal anomalies v1.823 MYO5B Arina Puzriakova Phenotypes for gene: MYO5B were changed from MICROVILLUS INCLUSION DISEASE to Diarrhea 2, with microvillus atrophy, OMIM:251850
Fetal anomalies v1.822 TLL1 Ivone Leong Tag Q1_22_rating tag was added to gene: TLL1.
Fetal anomalies v1.822 TLL1 Ivone Leong Entity copied from Familial non syndromic congenital heart disease v1.70
Fetal anomalies v1.822 TLL1 Ivone Leong gene: TLL1 was added
gene: TLL1 was added to Fetal anomalies. Sources: Expert Review Amber,Radboud University Medical Center, Nijmegen,Literature
Mode of inheritance for gene: TLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TLL1 were set to 18830233; 30538173; 27418595; 10331975; 31570783
Phenotypes for gene: TLL1 were set to Atrial septal defect 6, OMIM:613087
Penetrance for gene: TLL1 were set to Complete
Fetal anomalies v1.821 HEXB Arina Puzriakova Phenotypes for gene: HEXB were changed from GM2-GANGLIOSIDOSIS TYPE 2 to Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Fetal anomalies v1.820 KIDINS220 Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: KIDINS220.
Fetal anomalies v1.820 PIEZO1 Arina Puzriakova Phenotypes for gene: PIEZO1 were changed from hydrops fetalis gene 616843; Congenital lymphatic dysplasia with hydrops and/or lymphoedema to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380; Lymphatic malformation 6, OMIM:616843; Congenital lymphatic dysplasia with hydrops and/or lymphoedema
Fetal anomalies v1.819 TAB2 Zornitza Stark reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Rasopathy-like; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.819 PHF6 Ivone Leong Tag Q4_21_MOI tag was added to gene: PHF6.
Fetal anomalies v1.819 PHF6 Ivone Leong reviewed gene: PHF6: Rating: ; Mode of pathogenicity: None; Publications: 24092917, 25099957; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v1.819 PHF6 Ivone Leong Publications for gene: PHF6 were set to
Fetal anomalies v1.818 PHF6 Ivone Leong Phenotypes for gene: PHF6 were changed from BOERJESON-FORSSMAN-LEHMANN SYNDROME to Borjeson-Forssman-Lehmann syndrome, OMIM:301900
Fetal anomalies v1.817 RNASEH2B Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from AICARDI-GOUTIERES SYNDROME 2 to Aicardi-Goutieres syndrome 2, OMIM:610181
Fetal anomalies v1.816 IFIH1 Arina Puzriakova Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7; SINGLETON-MERTEN SYNDROME; Aicardi-Goutieres syndrome 7, 615846; Singleton-Merten syndrome 1, 182250 to Aicardi-Goutieres syndrome 7, OMIM:615846; Singleton-Merten syndrome 1, OMIM:182250
Fetal anomalies v1.815 EXOSC3 Arina Puzriakova Phenotypes for gene: EXOSC3 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 1 to Pontocerebellar hypoplasia, type 1B, OMIM:614678
Fetal anomalies v1.814 HPRT1 Arina Puzriakova Phenotypes for gene: HPRT1 were changed from LESCH-NYHAN SYNDROME; GOUT HPRT-RELATED to Hyperuricemia, HRPT-related, OMIM:300323; Lesch-Nyhan syndrome, OMIM:300322
Fetal anomalies v1.813 KIDINS220 Arina Puzriakova Added comment: Comment on phenotypes: Added relevant phenotype now listed in OMIM (MIM# 619501)
Fetal anomalies v1.813 KIDINS220 Arina Puzriakova Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296; spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007; cerebral ventriculomegaly; limb contractures to Ventriculomegaly and arthrogryposis, OMIM:619501
Fetal anomalies v1.812 CLPB Arina Puzriakova Tag Q4_21_expert_review tag was added to gene: CLPB.
Tag Q4_21_MOI tag was added to gene: CLPB.
Fetal anomalies v1.812 CLPB Arina Puzriakova Publications for gene: CLPB were set to
Fetal anomalies v1.811 CLPB Arina Puzriakova Added comment: Comment on mode of inheritance: Association between biallelic variants and disease is well established, with more than 35 affected individuals reported. Recently, Wortmann et al. 2021 (PMID: 34140661) published six unrelated individuals with one of four different de novo monoallelic missense variants in CLPB. The phenotype strongly overlapped with that observed in the recessive disease. No prenatal findings were specifically mentioned but given the otherwise comparable clinical presentations, monoallelic inheritance may also be of relevance to this panel. Therefore, will flag this for further GMS review.
Fetal anomalies v1.811 CLPB Arina Puzriakova Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.810 CLPB Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Fetal anomalies v1.809 AR Arina Puzriakova Phenotypes for gene: AR were changed from ANDROGEN INSENSITIVITY SYNDROME; SPINAL AND BULBAR MUSCULAR ATROPHY to ANDROGEN INSENSITIVITY SYNDROME
Fetal anomalies v1.808 FMR1 Arina Puzriakova Phenotypes for gene: FMR1 were changed from FRAGILE X SYNDROME; FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 to Fragile X syndrome, OMIM:300624; Fragile X tremor/ataxia syndrome, OMIM:300623
Fetal anomalies v1.807 DMPK Arina Puzriakova Phenotypes for gene: DMPK were changed from DYSTROPHIA MYOTONICA TYPE 1 to Myotonic dystrophy 1, OMIM:160900
Fetal anomalies v1.806 DMPK Arina Puzriakova Mode of pathogenicity for gene: DMPK was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v1.805 DMPK Arina Puzriakova Tag Q3_21_MOI tag was added to gene: DMPK.
Fetal anomalies v1.805 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism. MOI should be changed to 'Other' to maintain consistency with other panels
Fetal anomalies v1.805 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.804 CSTB Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Fetal anomalies v1.804 CSTB Arina Puzriakova Phenotypes for gene: CSTB were changed from UNVERRICHT-LUNDBORG DISEASE to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Fetal anomalies v1.803 CNBP_CCTG Arina Puzriakova Classified STR: CNBP_CCTG as Red List (low evidence)
Fetal anomalies v1.803 CNBP_CCTG Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to support the gene-disease association but setting rating to Red as currently the performance of the pipeline for this STR is very poor as it is located in a complex locus.
Fetal anomalies v1.803 CNBP_CCTG Arina Puzriakova Str: cnbp_cctg has been classified as Red List (Low Evidence).
Fetal anomalies v1.802 CNBP_CCTG Arina Puzriakova STR: CNBP_CCTG was added
STR: CNBP_CCTG was added to Fetal anomalies. Sources: Expert Review
STR, NGS Not Validated tags were added to STR: CNBP_CCTG.
Mode of inheritance for STR: CNBP_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CNBP_CCTG were set to Myotonic dystrophy 2, OMIM:602668
Added comment: The mutation is a CCTG repeat expansion in intron 1 of the CNBP (ZNF9) gene. The range of expanded allele sizes is 75 to 11,000 CCTG repeats, whereas normal is up to 30.

The CCTG repeat tract in normal alleles typically contains one or more tetranucleotide interruptions. The sequence interruptions that are routinely found within the CCTG tracts of normal alleles are not found in sequenced pathogenic CCTG expansions of CNBP alleles. On transmission to the next generation, CNBP repeat length sometimes diminishes dramatically, without significant differences determined by the gender of the transmitting parent.
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Copied from Rhiannon Mellis (GOSH) review of gene CNBP on Fetal anomalies panel:

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Expert Review
Fetal anomalies v1.801 CNBP Arina Puzriakova changed review comment from: Comment on list classification: Demoted to Red, this review is for the STR entity and not the gene entity.; to: Comment on list classification: Demoted to Red, this review is for the STR entity and not the gene entity. STR added separately.
Fetal anomalies v1.801 CNBP Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CNBP.
Tag currently-ngs-unreportable tag was added to gene: CNBP.
Fetal anomalies v1.801 CNBP Arina Puzriakova Tag for-review was removed from gene: CNBP.
Fetal anomalies v1.801 CNBP Arina Puzriakova Classified gene: CNBP as Red List (low evidence)
Fetal anomalies v1.801 CNBP Arina Puzriakova Added comment: Comment on list classification: Demoted to Red, this review is for the STR entity and not the gene entity.
Fetal anomalies v1.801 CNBP Arina Puzriakova Gene: cnbp has been classified as Red List (Low Evidence).
Fetal anomalies v1.800 CNBP Arina Puzriakova Mode of pathogenicity for gene: CNBP was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v1.799 CNBP Arina Puzriakova Classified gene: CNBP as Red List (low evidence)
Fetal anomalies v1.799 CNBP Arina Puzriakova Gene: cnbp has been classified as Red List (Low Evidence).
Fetal anomalies v1.798 CNBP Arina Puzriakova Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668
Fetal anomalies v1.797 CNBP Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Fetal anomalies v1.797 CNBP Arina Puzriakova Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Fetal anomalies v1.796 MMP15 Ivone Leong Tag watchlist tag was added to gene: MMP15.
Fetal anomalies v1.796 MMP15 Ivone Leong Classified gene: MMP15 as Amber List (moderate evidence)
Fetal anomalies v1.796 MMP15 Ivone Leong Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 33875846 describes 3 patients from 2 families with biallelic variants in MMP15 (one is Pro353fs and other is Gly231Arg). One family with 2 affected siblings presented with cholestasis, hepatomegaly, high hepatic transaminases, and congenital heart disease. The other unrelated case showed similar symptoms.

As there are only 2 cases and currently there are no animal models that replicate the human phenotype this gene has been given an Amber rating until more evidence is available.
Fetal anomalies v1.796 MMP15 Ivone Leong Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.795 MMP15 Ivone Leong Phenotypes for gene: MMP15 were changed from Cholestasis; congenital heart disease to Cholestasis, MONDO:0001751; congenital heart disease, MONDO:0005453
Fetal anomalies v1.794 MMP15 Ivone Leong Publications for gene: MMP15 were set to PMID: 33875846
Fetal anomalies v1.793 SHOX Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: SHOX.
Fetal anomalies v1.793 RFT1 Ivone Leong Tag for-reivew was removed from gene: RFT1.
Fetal anomalies v1.793 RFT1 Ivone Leong Tag for-review tag was added to gene: RFT1.
Fetal anomalies v1.793 EDNRB Ivone Leong Publications for gene: EDNRB were set to
Fetal anomalies v1.792 EDNRB Ivone Leong reviewed gene: EDNRB: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.792 EDNRB Ivone Leong Tag Q4_21_MOI tag was added to gene: EDNRB.
Fetal anomalies v1.792 SMARCE1 Arina Puzriakova Classified gene: SMARCE1 as Amber List (moderate evidence)
Fetal anomalies v1.792 SMARCE1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.792 SMARCE1 Arina Puzriakova Gene: smarce1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.791 SMARCE1 Arina Puzriakova Tag Q4_21_rating tag was added to gene: SMARCE1.
Fetal anomalies v1.791 SMARCE1 Arina Puzriakova Publications for gene: SMARCE1 were set to
Fetal anomalies v1.790 SMARCE1 Arina Puzriakova Phenotypes for gene: SMARCE1 were changed from COFFIN SIRIS to Coffin-Siris syndrome 5, OMIM:616938
Fetal anomalies v1.789 SLC6A9 Arina Puzriakova Classified gene: SLC6A9 as Amber List (moderate evidence)
Fetal anomalies v1.789 SLC6A9 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.789 SLC6A9 Arina Puzriakova Gene: slc6a9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.788 SLC6A9 Arina Puzriakova Publications for gene: SLC6A9 were set to
Fetal anomalies v1.787 SLC6A9 Arina Puzriakova Phenotypes for gene: SLC6A9 were changed from Glycine Encephalopathy with Arthrogryposis to Glycine encephalopathy with normal serum glycine, OMIM:617301; Arthrogryposis, MONDO:0008779
Fetal anomalies v1.786 SLC6A9 Arina Puzriakova Tag Q4_21_rating tag was added to gene: SLC6A9.
Fetal anomalies v1.786 PRRX1 Arina Puzriakova Tag Q4_21_rating tag was added to gene: PRRX1.
Fetal anomalies v1.786 PRRX1 Arina Puzriakova Classified gene: PRRX1 as Amber List (moderate evidence)
Fetal anomalies v1.786 PRRX1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.786 PRRX1 Arina Puzriakova Gene: prrx1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.785 PRRX1 Arina Puzriakova Added comment: Comment on mode of inheritance: Setting MOI to 'Monoallelic' for now as 3 unrelated cases of otocephaly with private heterozygous LoF variants have been reported in literature to date, but only one patient with a homozygous alteration. May be reviewed if evidence of further cases emerges.
Fetal anomalies v1.785 PRRX1 Arina Puzriakova Mode of inheritance for gene: PRRX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.784 PRRX1 Arina Puzriakova Phenotypes for gene: PRRX1 were changed from Agnathia-otocephaly complex to Agnathia-otocephaly complex, OMIM:202650
Fetal anomalies v1.783 PRIM1 Arina Puzriakova Classified gene: PRIM1 as Amber List (moderate evidence)
Fetal anomalies v1.783 PRIM1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.783 PRIM1 Arina Puzriakova Gene: prim1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.782 PRIM1 Arina Puzriakova Publications for gene: PRIM1 were set to PMID: 33060134
Fetal anomalies v1.781 PRIM1 Arina Puzriakova Phenotypes for gene: PRIM1 were changed from Primordial dwarfism to Microcephalic primordial dwarfism, MONDO:0017950
Fetal anomalies v1.780 PRIM1 Arina Puzriakova Tag Q4_21_rating tag was added to gene: PRIM1.
Fetal anomalies v1.780 POLR1B Arina Puzriakova Publications for gene: POLR1B were set to PMID: 31649276
Fetal anomalies v1.779 POLR1B Arina Puzriakova Phenotypes for gene: POLR1B were changed from Treacher-Collins syndrome 4 to Treacher-Collins syndrome 4 OMIM:618939
Fetal anomalies v1.778 POLR1B Arina Puzriakova Classified gene: POLR1B as Amber List (moderate evidence)
Fetal anomalies v1.778 POLR1B Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.778 POLR1B Arina Puzriakova Gene: polr1b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.777 POLR1B Arina Puzriakova Tag Q4_21_rating tag was added to gene: POLR1B.
Fetal anomalies v1.777 MN1 Arina Puzriakova Tag Q4_21_rating tag was added to gene: MN1.
Fetal anomalies v1.777 LMNB2 Arina Puzriakova Phenotypes for gene: LMNB2 were changed from Microcephaly 27, primary, autosomal dominant to Microcephaly 27, primary, autosomal dominant, OMIM:619180
Fetal anomalies v1.776 LMNB2 Arina Puzriakova Publications for gene: LMNB2 were set to PMID: 33033404
Fetal anomalies v1.775 LMNB2 Arina Puzriakova Classified gene: LMNB2 as Amber List (moderate evidence)
Fetal anomalies v1.775 LMNB2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.775 LMNB2 Arina Puzriakova Gene: lmnb2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.774 LMNB2 Arina Puzriakova Tag Q4_21_rating tag was added to gene: LMNB2.
Fetal anomalies v1.774 LMNB1 Arina Puzriakova Publications for gene: LMNB1 were set to PMID: 33033404
Fetal anomalies v1.773 LMNB1 Arina Puzriakova Phenotypes for gene: LMNB1 were changed from Microcephaly 26, primary, autosomal dominant to Microcephaly 26, primary, autosomal dominant, OMIM:619179
Fetal anomalies v1.772 LMNB1 Arina Puzriakova Classified gene: LMNB1 as Amber List (moderate evidence)
Fetal anomalies v1.772 LMNB1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.772 LMNB1 Arina Puzriakova Gene: lmnb1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.771 LMNB1 Arina Puzriakova Tag Q4_21_rating tag was added to gene: LMNB1.
Fetal anomalies v1.771 GREB1L Arina Puzriakova Phenotypes for gene: GREB1L were changed from Renal hypodysplasia/aplasia 3, 617805; renal agenesis to Renal hypodysplasia/aplasia 3, OMIM:617805; Renal agenesis, MONDO:0018470
Fetal anomalies v1.770 FLNC Arina Puzriakova Tag Q4_21_rating tag was added to gene: FLNC.
Fetal anomalies v1.770 FLNC Arina Puzriakova Classified gene: FLNC as Amber List (moderate evidence)
Fetal anomalies v1.770 FLNC Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.770 FLNC Arina Puzriakova Gene: flnc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.769 FLNC Arina Puzriakova Publications for gene: FLNC were set to PMID: 33060286; 29858533
Fetal anomalies v1.768 FLNC Arina Puzriakova Phenotypes for gene: FLNC were changed from Arthrogryposis to Arthrogryposis, MONDO:0008779
Fetal anomalies v1.767 EXTL3 Arina Puzriakova Tag Q4_21_rating tag was added to gene: EXTL3.
Fetal anomalies v1.767 EXTL3 Arina Puzriakova Classified gene: EXTL3 as Amber List (moderate evidence)
Fetal anomalies v1.767 EXTL3 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.767 EXTL3 Arina Puzriakova Gene: extl3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.766 EXTL3 Arina Puzriakova Publications for gene: EXTL3 were set to
Fetal anomalies v1.765 EXTL3 Arina Puzriakova Phenotypes for gene: EXTL3 were changed from Immunoskeletal dysplasia with neurodevelopmental abnormalities to Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
Fetal anomalies v1.764 ENPP1 Arina Puzriakova Classified gene: ENPP1 as Amber List (moderate evidence)
Fetal anomalies v1.764 ENPP1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.764 ENPP1 Arina Puzriakova Gene: enpp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.763 ENPP1 Arina Puzriakova Phenotypes for gene: ENPP1 were changed from HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 to Arterial calcification, generalized, of infancy, 1, OMIM:208000
Fetal anomalies v1.762 ENPP1 Arina Puzriakova Publications for gene: ENPP1 were set to
Fetal anomalies v1.761 ENPP1 Arina Puzriakova Tag Q4_21_rating tag was added to gene: ENPP1.
Fetal anomalies v1.761 EIF5A Arina Puzriakova Classified gene: EIF5A as Amber List (moderate evidence)
Fetal anomalies v1.761 EIF5A Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.761 EIF5A Arina Puzriakova Gene: eif5a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.760 EIF5A Arina Puzriakova Publications for gene: EIF5A were set to PMID: 33547280
Fetal anomalies v1.759 EIF5A Arina Puzriakova Phenotypes for gene: EIF5A were changed from Faundes-Banka syndrome to Faundes-Banka syndrome, OMIM:619376
Fetal anomalies v1.758 EIF5A Arina Puzriakova Tag Q4_21_rating tag was added to gene: EIF5A.
Fetal anomalies v1.758 CSF1R Arina Puzriakova Classified gene: CSF1R as Amber List (moderate evidence)
Fetal anomalies v1.758 CSF1R Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.758 CSF1R Arina Puzriakova Gene: csf1r has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.757 CSF1R Arina Puzriakova Publications for gene: CSF1R were set to PMID: 30982608
Fetal anomalies v1.756 CSF1R Arina Puzriakova Phenotypes for gene: CSF1R were changed from Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) to Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476; BANDDOS
Fetal anomalies v1.755 CSF1R Arina Puzriakova Tag Q4_21_rating tag was added to gene: CSF1R.
Fetal anomalies v1.755 CRADD Arina Puzriakova Tag Q4_21_rating tag was added to gene: CRADD.
Fetal anomalies v1.755 CRADD Arina Puzriakova Classified gene: CRADD as Amber List (moderate evidence)
Fetal anomalies v1.755 CRADD Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.755 CRADD Arina Puzriakova Gene: cradd has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.754 CRADD Arina Puzriakova Phenotypes for gene: CRADD were changed from Megalencephaly with Variant Lissencephaly to Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499
Fetal anomalies v1.753 CRADD Arina Puzriakova Publications for gene: CRADD were set to
Fetal anomalies v1.752 CDK8 Arina Puzriakova Publications for gene: CDK8 were set to PMID: 31742715; 30905399
Fetal anomalies v1.751 CDK8 Arina Puzriakova Phenotypes for gene: CDK8 were changed from Syndromic developmental disorder with hypotonia and behavioural abnormalities to Intellectual developmental disorder with hypotonia and behavioral abnormalities, OMIM:618748
Fetal anomalies v1.750 CDK8 Arina Puzriakova Classified gene: CDK8 as Amber List (moderate evidence)
Fetal anomalies v1.750 CDK8 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.750 CDK8 Arina Puzriakova Gene: cdk8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.749 CDK8 Arina Puzriakova Tag Q4_21_rating tag was added to gene: CDK8.
Fetal anomalies v1.749 RAB11A Dmitrijs Rots reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33875846, 26902202; Phenotypes: microcephaly, brain anomalies, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.749 MMP15 Dmitrijs Rots gene: MMP15 was added
gene: MMP15 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP15 were set to PMID: 33875846
Phenotypes for gene: MMP15 were set to Cholestasis; congenital heart disease
Review for gene: MMP15 was set to AMBER
Added comment: Three cases from two families with biallelic variants and very similar phenotype including rare combination of symtoms (allagile-like) cholestasis with hepatomegaly and congenital heart disease. Phenotype could be important for fetal panel.
Sources: Literature
Fetal anomalies v1.749 PRRX1 Rhiannon Mellis gene: PRRX1 was added
gene: PRRX1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PRRX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PRRX1 were set to 21294718; 22211708; 22674740; 23444262
Phenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex
Review for gene: PRRX1 was set to GREEN
Added comment: At least 4 unrelated cases reported with agnathia-otocephaly complex
Sources: Literature
Fetal anomalies v1.749 POLR1B Rhiannon Mellis gene: POLR1B was added
gene: POLR1B was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to PMID: 31649276
Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome 4
Review for gene: POLR1B was set to GREEN
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already flagged for upgrade to Green on the following other PanelApp panel(s): Clefting, Skeletal dysplasias

Details of review:
PMID: 31649276 - Sanchez et al 2020 - using exome sequencing identified 6 patients (5 unrelated families) with Treacher Collins syndrome with heterozygous missense variants in POLR1B.
Sources: Expert Review, Literature
Fetal anomalies v1.749 CSF1R Rhiannon Mellis gene: CSF1R was added
gene: CSF1R was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF1R were set to PMID: 30982608
Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)
Review for gene: CSF1R was set to GREEN
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Details of review:
Homozygous variants cause Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). Skeletal phenotype is osteopetrosis, dysosteosclerosis, platyspondyly, widened metaphyses. Brain anomalies include ACC and Dandy walker. At least one reported case of prenatal presentation with multiple brain anomalies - PubMed: 30982608

NB Bilallelic LOF variants cause this condition with fetally relevant phenotype but Monoallelic variants with dominant-negative effect cause an adult-onset neurodegenerative disease. Only for fetal reporting in BIALLELIC form
Sources: Expert Review
Fetal anomalies v1.749 LMNB2 Rhiannon Mellis gene: LMNB2 was added
gene: LMNB2 was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNB2 were set to PMID: 33033404
Phenotypes for gene: LMNB2 were set to Microcephaly 27, primary, autosomal dominant
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Severe microcephaly (pending)

Details of review:
Parry et al 2020 (PMID: 33033404) report on a cohort from DDD and 100k genomes studies: 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6) - phenotype of severe congenital microcephaly and ID (otherwise non-syndromic).
Sources: Expert Review, Literature
Fetal anomalies v1.749 LMNB1 Rhiannon Mellis gene: LMNB1 was added
gene: LMNB1 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNB1 were set to PMID: 33033404
Phenotypes for gene: LMNB1 were set to Microcephaly 26, primary, autosomal dominant
Review for gene: LMNB1 was set to GREEN
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Severe microcephaly (pending)

Details of review:
Parry et al 2020 (PMID: 33033404) report on a cohort from DDD and 100k genomes studies: 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6) - phenotype of severe congenital microcephaly and ID (otherwise non-syndromic).
Sources: Literature, Expert Review
Fetal anomalies v1.749 EIF5A Rhiannon Mellis gene: EIF5A was added
gene: EIF5A was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF5A were set to PMID: 33547280
Phenotypes for gene: EIF5A were set to Faundes-Banka syndrome
Review for gene: EIF5A was set to GREEN
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Details of review:
Faundes et al 2021 (PMID: 33547280) report this as a novel disease gene associated with micrognathia, microcephaly, IUGR and Kabuki-like phenotype. Now on OMIM as of August 2021. 7 unrelated patients in this publication.
Sources: Literature, Expert Review
Fetal anomalies v1.749 PRIM1 Rhiannon Mellis gene: PRIM1 was added
gene: PRIM1 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to PMID: 33060134
Phenotypes for gene: PRIM1 were set to Primordial dwarfism
Review for gene: PRIM1 was set to GREEN
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Details of review:
Parry et al 2020 (PMID: 33060134) report this as a novel disease gene - biallelic LOF mutations in 5 patients (from 4 families) with primordial dwarfism phenotype, including prenatal features of IUGR and extreme microcephaly with simplified gyri.
Sources: Literature, Expert Review
Fetal anomalies v1.749 MN1 Rhiannon Mellis commented on gene: MN1: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Agreed that the phenotype is fetally relevant (structural brain abnormalities e.g. polymicrogyria, cerebellar hypoplasia, craniofacial features etc.) support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v1.749 EXTL3 Rhiannon Mellis gene: EXTL3 was added
gene: EXTL3 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities
Review for gene: EXTL3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott.

Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert Review
Fetal anomalies v1.749 GREB1L Rhiannon Mellis commented on gene: GREB1L: This gene and phenotype were re-reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene as per previous reviews (unclear on reason for change from Green to Amber previously)
Fetal anomalies v1.749 EXOC3L2 Rhiannon Mellis reviewed gene: EXOC3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30327448, 28749478, 27894351; Phenotypes: Dandy Walker malformation, Meckel-Gruber like phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.749 FLNC Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Distal myopathies

Details of review:
In this paper by Ravenscroft et al 2020, the proband presented at birth with hip dislocation, clenched hands, adducted thumbs, small mouth and high palate and posteriorly rotated ears. On examination, she had mild arthrogryposis, reduced shoulder movement, elbow dimples and scoliosis. Kiselev et al (PMID: 29858533) also described a series of four cases with early onset restrictive cardiomyopathy (RCM) and congenital myopathy. Two of these also presented with arthrogryposis at birth.
Sources: Literature, Expert Review; to: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Distal myopathies; Neuromuscular disorders; flagged for upgrade to Green on Arthrogryposis panel

Details of review:
In this paper by Ravenscroft et al 2020, the proband presented at birth with hip dislocation, clenched hands, adducted thumbs, small mouth and high palate and posteriorly rotated ears. On examination, she had mild arthrogryposis, reduced shoulder movement, elbow dimples and scoliosis. Kiselev et al (PMID: 29858533) also described a series of four cases with early onset restrictive cardiomyopathy (RCM) and congenital myopathy. Two of these also presented with arthrogryposis at birth.
Sources: Literature, Expert Review
Fetal anomalies v1.749 FLNC Rhiannon Mellis gene: FLNC was added
gene: FLNC was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLNC were set to PMID: 33060286; 29858533
Phenotypes for gene: FLNC were set to Arthrogryposis
Review for gene: FLNC was set to GREEN
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Distal myopathies

Details of review:
In this paper by Ravenscroft et al 2020, the proband presented at birth with hip dislocation, clenched hands, adducted thumbs, small mouth and high palate and posteriorly rotated ears. On examination, she had mild arthrogryposis, reduced shoulder movement, elbow dimples and scoliosis. Kiselev et al (PMID: 29858533) also described a series of four cases with early onset restrictive cardiomyopathy (RCM) and congenital myopathy. Two of these also presented with arthrogryposis at birth.
Sources: Literature, Expert Review
Fetal anomalies v1.749 SMARCE1 Rhiannon Mellis reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32732226, 32436246, 32410215; Phenotypes: Coffin Siris syndrome 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.749 SMARCC1 Rhiannon Mellis reviewed gene: SMARCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32732226; Phenotypes: Congenital hydrocephalus, Aqueduct stenosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.749 SLC6A9 Rhiannon Mellis reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31875334, 27773429, 32712301, 33269555; Phenotypes: Glycine encephalopathy with Arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.749 CRADD Rhiannon Mellis reviewed gene: CRADD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29947050, 27773430; Phenotypes: Mental retardation, autosomal recessive 34, with variant lissencephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.749 CDK8 Rhiannon Mellis gene: CDK8 was added
gene: CDK8 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK8 were set to PMID: 31742715; 30905399
Phenotypes for gene: CDK8 were set to Syndromic developmental disorder with hypotonia and behavioural abnormalities
Review for gene: CDK8 was set to GREEN
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Intellectual disability; Severe paediatric disorders

Details of review:
Aggarwal et al 2020 report a heterozygous nonsense variant in a fetus with ventriculomegaly and Ebstein anomaly resulting in IUFD. Post-mortem found additionally congenital diaphragmatic hernia, common atrium and facial dysmorphism. This nonsense variant is at the same position as a hotspot for missense variants reported in a paediatric cohort (Calpena et al 2019, PMID: 30905399) with overlapping but milder phenotype: half of the 12 children in that cohort had cardiac defects, most had dysmorphic features - hence Aggarwal et al propose that this is a more severe (prenatal) presentation of the same multiple malformation syndrome, caused here by a nonsense rather than missense mutation.
Sources: Literature, Expert Review
Fetal anomalies v1.749 ENPP1 Rhiannon Mellis reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31742715, 19521093, 19813208; Phenotypes: Generalised arterial calcification of infancy (GACI); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.749 ACAN Zornitza Stark reviewed gene: ACAN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepimetaphyseal dysplasia, aggrecan type, MIM# 612813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.749 CYP19A1 Arina Puzriakova Phenotypes for gene: CYP19A1 were changed from Aromatase deficiency 613546; Aromatase excess syndrome 139300 to Aromatase deficiency, OMIM:613546; Aromatase excess syndrome, OMIM:139300
Fetal anomalies v1.748 CYP19A1 Arina Puzriakova Mode of inheritance for gene: CYP19A1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.747 CYP19A1 Arina Puzriakova Mode of inheritance for gene: CYP19A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v1.746 CYP11A1 Arina Puzriakova Phenotypes for gene: CYP11A1 were changed from Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743 to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743
Fetal anomalies v1.745 CRYBB3 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS panel update. CRYBB3 is associated with congenital cataract (MIM# 609741) which can have monoallelic or biallelic inheritance. Both MOIs for this phenotype are listed in OMIM and G2P.
Fetal anomalies v1.745 CRYBB3 Arina Puzriakova Mode of inheritance for gene: CRYBB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.744 CRYBB3 Arina Puzriakova Tag Q4_21_MOI tag was added to gene: CRYBB3.
Fetal anomalies v1.744 CRYBB3 Arina Puzriakova Phenotypes for gene: CRYBB3 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 to Cataract 22, OMIM:609741
Fetal anomalies v1.743 COL9A3 Arina Puzriakova Phenotypes for gene: COL9A3 were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 to Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969
Fetal anomalies v1.742 COL6A3 Arina Puzriakova Phenotypes for gene: COL6A3 were changed from ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; DYSTONIA 27 to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090
Fetal anomalies v1.741 COL6A3 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS panel update. COL6A3 is associated with two relevant disorders, both of which show biallelic and monoallelic inheritance (Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090).
Fetal anomalies v1.741 COL6A3 Arina Puzriakova Mode of inheritance for gene: COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.740 COL6A3 Arina Puzriakova Tag Q4_21_MOI tag was added to gene: COL6A3.
Fetal anomalies v1.740 COL6A1 Arina Puzriakova Tag Q4_21_MOI tag was added to gene: COL6A1.
Fetal anomalies v1.740 COL6A1 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' to 'Both mono- and biallelic' at the next GMS panel update. COL6A1 is associated with two relevant disorders, both of which show biallelic and monoallelic inheritance (Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090).
Fetal anomalies v1.740 COL6A1 Arina Puzriakova Mode of inheritance for gene: COL6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.739 COL6A1 Arina Puzriakova Phenotypes for gene: COL6A1 were changed from COL6A1 associated myopathy to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Fetal anomalies v1.738 IFT122 Sarah Leigh reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.738 IFT122 Sarah Leigh Publications for gene: IFT122 were set to
Fetal anomalies v1.737 IFT122 Sarah Leigh Phenotypes for gene: IFT122 were changed from CRANIOECTODERMAL DYSPLASIA to Cranioectodermal dysplasia type 1 OMIM:218330; cranioectodermal dysplasia 1 MONDO:0021093
Fetal anomalies v1.736 LRIT3 Zornitza Stark reviewed gene: LRIT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1F, autosomal recessive 615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.736 AAAS Zornitza Stark edited their review of gene: AAAS: Changed rating: RED
Fetal anomalies v1.736 AAAS Zornitza Stark reviewed gene: AAAS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: None
Fetal anomalies v1.736 CLCN7 Arina Puzriakova Phenotypes for gene: CLCN7 were changed from CLCN7-RELATED OSTEOPETROSIS; Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600 to CLCN7-RELATED OSTEOPETROSIS; Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600; Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541
Fetal anomalies v1.735 CLCN7 Arina Puzriakova Phenotypes for gene: CLCN7 were changed from CLCN7-RELATED OSTEOPETROSIS to CLCN7-RELATED OSTEOPETROSIS; Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600
Fetal anomalies v1.734 CLCN7 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be changed from 'Biallelic' to 'Both mono- and biallelic' at the next review. At least 2 recessive cases and >3 dominant cases reported with osteopetrosis.
Fetal anomalies v1.734 CLCN7 Arina Puzriakova Mode of inheritance for gene: CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.733 CLCN7 Arina Puzriakova Tag Q4_21_MOI tag was added to gene: CLCN7.
Fetal anomalies v1.733 EHBP1L1 Sarah Leigh Tag Q4_21_rating tag was added to gene: EHBP1L1.
Fetal anomalies v1.733 EHBP1L1 Sarah Leigh Entity copied from Fetal hydrops v1.39
Fetal anomalies v1.733 EHBP1L1 Sarah Leigh gene: EHBP1L1 was added
gene: EHBP1L1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHBP1L1 were set to 34645488; 26833786; https://dmdd.org.uk/mutants/Ehbp1l1
Phenotypes for gene: EHBP1L1 were set to non-immune hydrops fetalis MONDO:0009369
Penetrance for gene: EHBP1L1 were set to unknown
Fetal anomalies v1.732 ZC4H2 Ivone Leong Publications for gene: ZC4H2 were set to
Fetal anomalies v1.731 ZC4H2 Ivone Leong Phenotypes for gene: ZC4H2 were changed from ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY to Wieacker-Wolff syndrome, OMIM:314580; Wieacker-Wolff syndrome, female-restricted, OMIM:301041
Fetal anomalies v1.730 AP1S2 Arina Puzriakova Tag Q4_21_MOI tag was added to gene: AP1S2.
Fetal anomalies v1.730 AP1S2 Arina Puzriakova Phenotypes for gene: AP1S2 were changed from MENTAL RETARDATION X-LINKED TYPE 59 to Pettigrew syndrome, OMIM:304340
Fetal anomalies v1.729 AP1S2 Arina Puzriakova Added comment: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles.

As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline.
Fetal anomalies v1.729 AP1S2 Arina Puzriakova Mode of inheritance for gene: AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.728 SCUBE3 Sarah Leigh Phenotypes for gene: SCUBE3 were changed from Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953
Fetal anomalies v1.727 SCUBE3 Sarah Leigh Tag Q4_21_expert_review tag was added to gene: SCUBE3.
Fetal anomalies v1.727 SCUBE3 Sarah Leigh Tag Q2_21_rating was removed from gene: SCUBE3.
Fetal anomalies v1.727 SCUBE3 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in 5 unrelated cases, together with supportive functional and mouse model studies (PMID 33308444).; to: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. PMID 33308444 reports eight SCUBE variants in nine unrelated families, including eighteen affected members. In vtro studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, resulting in dysregulation on bone morphogenetic protein (BMP) signaling and a Scube3−/− mouse showed shared phenotypic features with OMIM:619184. Prenatal growth retardation was evident in 8/11 relevant cases.
Fetal anomalies v1.727 BMPR1B Arina Puzriakova changed review comment from: Comment on mode of inheritance: Biallelic variants lead to the Demirhan type of acromesomelic dysplasia (MIM# 609441) which is pertinent to this panel. Monoallelic variants cause brachydactyly (MIM# 616849 and MIM# 112600) with dysplasia of only a single or few phalanges which would be difficult to diagnose prenatally. For this reason the MOI should remain as biallelic only on this panel.; to: Comment on mode of inheritance: Biallelic variants lead to the Demirhan type of acromesomelic dysplasia (MIM# 609441) which is pertinent to this panel. Monoallelic variants cause brachydactyly (MIM# 616849 and MIM# 112600) with dysplasia of only a single or few phalanges which would be difficult to diagnose prenatally. For this reason the MOI should remain as biallelic only on this panel.
-----
Confirmed with clinical team that this is the appropriate MOI for this panel.
Fetal anomalies v1.727 SCUBE3 Sarah Leigh Entity copied from Skeletal dysplasia v2.136
Fetal anomalies v1.727 SCUBE3 Sarah Leigh gene: SCUBE3 was added
gene: SCUBE3 was added to Fetal anomalies. Sources: Expert Review Amber,Other
Q2_21_rating tags were added to gene: SCUBE3.
Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCUBE3 were set to 33308444
Phenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184
Penetrance for gene: SCUBE3 were set to unknown
Fetal anomalies v1.726 BMP2 Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the mode of inheritance as monoallelic. OMIM also reports the biallelic phenotype of {HFE hemochromatosis, modifier of} but this is not relevant to this panel.
Fetal anomalies v1.726 BMP2 Eleanor Williams Mode of inheritance for gene: BMP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.725 BHLHA9 Eleanor Williams Added comment: Comment on mode of inheritance: Biallelic single nucleotide variants in this gene are associated with Syndactyly, mesoaxial synostotic, with phalangeal reduction (OMIM:609432). Monoallelic duplications of the whole gene are associated with split hand/foot malformations, but it is not clear if they are inherited in an Mendelian manner (see review on the Limb disorders panel https://panelapp.genomicsengland.co.uk/panels/384/gene/BHLHA9/)

Therefore the recommendation is that the mode of inheritance should be biallelic only for this gene, with region being eventually represented by a separate entity.
Fetal anomalies v1.725 BHLHA9 Eleanor Williams Mode of inheritance for gene: BHLHA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.724 BHLHA9 Eleanor Williams Phenotypes for gene: BHLHA9 were changed from ?Camptosynpolydactyly, complex, OMIM:607539; Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE to ?Camptosynpolydactyly, complex, OMIM:607539; Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432; SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE
Fetal anomalies v1.723 BHLHA9 Eleanor Williams Phenotypes for gene: BHLHA9 were changed from SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE to ?Camptosynpolydactyly, complex, OMIM:607539; Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE
Fetal anomalies v1.722 BHLHA9 Eleanor Williams Tag Q4_21_MOI tag was added to gene: BHLHA9.
Fetal anomalies v1.722 TMEM260 Sarah Leigh Tag Q4_21_rating tag was added to gene: TMEM260.
Fetal anomalies v1.722 TMEM260 Sarah Leigh edited their review of gene: TMEM260: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least eight variants have been reported in at least six unrelated cases. The variants included: one multi-exon deletion resulting in a frameshift, two smaller frameshifting deletions, two nonsense, one splicing change and two missense changes, one of which was shown by cDNA sequencing to result in skipping of exon 3 (PMID 34612517).; Changed rating: GREEN
Fetal anomalies v1.722 TMEM260 Sarah Leigh Classified gene: TMEM260 as Amber List (moderate evidence)
Fetal anomalies v1.722 TMEM260 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Fetal anomalies v1.722 TMEM260 Sarah Leigh Gene: tmem260 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.721 TMEM260 Sarah Leigh Publications for gene: TMEM260 were set to 28318500
Fetal anomalies v1.720 LONP1 Zornitza Stark reviewed gene: LONP1: Rating: RED; Mode of pathogenicity: None; Publications: 34547244; Phenotypes: Congenital diaphragmatic hernia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.720 WLS Zornitza Stark gene: WLS was added
gene: WLS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WLS were set to 34587386
Phenotypes for gene: WLS were set to structural congenital anomalies
Review for gene: WLS was set to GREEN
Added comment: - Homozygous variants in 10 affected persons from 5 unrelated families.
- Affected individuals had multiorgan defects, including microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects.
- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis.
Sources: Literature
Fetal anomalies v1.720 WNT9B Zornitza Stark gene: WNT9B was added
gene: WNT9B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WNT9B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT9B were set to 34145744
Phenotypes for gene: WNT9B were set to Renal agenesis/hypoplasia/dysplasia
Review for gene: WNT9B was set to AMBER
Added comment: WNT9B plays a key role in the development of the mammalian urogenital system. It is essential for the induction of mesonephric and metanephric tubules, the regulation of renal tubule morphogenesis, and the regulation of renal progenitor cell expansion and differentiation. WNT9B−/− mice have renal agenesis/hypoplasia and reproductive tract abnormalities.

Lemire et al. (2021) report 4 individuals from 2 unrelated consanguineous families with bilateral renal agenesis/hypoplasia/dysplasia and homozygous variants in WNT9B. The proband from Family 1 had bilateral renal cystic dysplasia and chronic kidney disease, with 2 deceased siblings with bilateral renal hypoplasia/agenesis. The 3 affected family members were homozygous for a Gly317Arg missense variant in WNT9B. Proband from Family 2 had renal hypoplasia/dysplasia, chronic kidney disease, and was homozygous for a Pro5Alafs*52 nonsense variant in WNT9B. The proband's unaffected brother is also homozygous for the nonsense variant in WNT9B, suggesting nonpenetrance.

I wasn't sure which panel this is more pertinent to: we have added this gene to our CAKUT panel.
Sources: Literature
Fetal anomalies v1.720 TMEM260 Alistair Pagnamenta reviewed gene: TMEM260: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28318500, 34612517; Phenotypes: ventricular septal defects, truncus arteriosus, elevated creatinine levels; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.720 MED12 Eleanor Williams changed review comment from: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome (Li et al 2021, PMID: 33244166). The phenotype includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation.

In addition Polla et al 2021 (PMID: 33244165) and Riccardi et al 2021 (PMID: 34079076) report 22 females in total with de novo variants in MED12. Some physical features such as syndactyly (10/22) and anteriorly placed anus (4/22) are noted. 12/22 have severe intellectual disability.

X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the predominantly male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases. ; to: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome (Li et al 2021, PMID: 33244166). The phenotype includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation.

In addition Polla et al 2021 (PMID: 33244165) and Riccardi et al 2021 (PMID: 34079076) report 22 females in total with de novo variants in MED12. Some physical features such as syndactyly (10/22) and anteriorly placed anus (4/22) are noted. 12/22 have severe intellectual disability.

X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the predominantly male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases, therefore waiting for GMS review before considering changing the mode of inheritance.
Fetal anomalies v1.720 MED12 Eleanor Williams Tag Skewed X-inactivation tag was added to gene: MED12.
Fetal anomalies v1.720 MED12 Eleanor Williams changed review comment from: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome (the phenotype that includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation).

In addition Polla et al 2021 (PMID: 33244165) and Riccardi et al 2021 (PMID: 34079076) report 22 females in total with de novo variants in MED12. Some physical features such as syndactyly (10/22) and anteriorly placed anus (4/22) also noted. 12/22 have severe intellectual disability.

X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the predominantly male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases. ; to: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome (Li et al 2021, PMID: 33244166). The phenotype includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation.

In addition Polla et al 2021 (PMID: 33244165) and Riccardi et al 2021 (PMID: 34079076) report 22 females in total with de novo variants in MED12. Some physical features such as syndactyly (10/22) and anteriorly placed anus (4/22) are noted. 12/22 have severe intellectual disability.

X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the predominantly male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases.
Fetal anomalies v1.720 MED12 Eleanor Williams changed review comment from: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome and phenotype that includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation.

X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases; to: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome (the phenotype that includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation).

In addition Polla et al 2021 (PMID: 33244165) and Riccardi et al 2021 (PMID: 34079076) report 22 females in total with de novo variants in MED12. Some physical features such as syndactyly (10/22) and anteriorly placed anus (4/22) also noted. 12/22 have severe intellectual disability.

X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the predominantly male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases.
Fetal anomalies v1.720 KMT2A Arina Puzriakova Phenotypes for gene: KMT2A were changed from WIEDEMANN-STEINER SYNDROME to Wiedemann-Steiner syndrome, OMIM:605130
Fetal anomalies v1.719 GREB1L Ivone Leong Publications for gene: GREB1L were set to 29261186; 29100091; 31424080; 32378186
Fetal anomalies v1.718 MED12 Eleanor Williams Tag Q3_21_MOI tag was added to gene: MED12.
Fetal anomalies v1.718 MED12 Eleanor Williams Added comment: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome and phenotype that includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation.

X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases
Fetal anomalies v1.718 MED12 Eleanor Williams Mode of inheritance for gene: MED12 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.717 MED12 Eleanor Williams Tag Q3_21_expert_review tag was added to gene: MED12.
Fetal anomalies v1.717 GREB1L Rhiannon Mellis edited their review of gene: GREB1L: Added comment: A further prenatal case reported in PMID 31974414 (Vora et al 2020) - c.4881_4882del; [p.H1627fs] inherited from parent, 2 affected pregnancies with bilateral renal agenesis plus a living child with single kidney.; Changed rating: GREEN; Changed publications to: PMID: 31424080, 32378186, 31974414
Fetal anomalies v1.717 GNB1 Sarah Leigh Added comment: Comment on mode of pathogenicity: Gen2Phen entry for GNB1 (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2121) lists the mutation consequence summary as Activating
Fetal anomalies v1.717 GNB1 Sarah Leigh Mode of pathogenicity for gene: GNB1 was changed from to None
Fetal anomalies v1.716 GRIN1 Sarah Leigh edited their review of gene: GRIN1: Added comment: The MOI monoallelic is listed for this panel, as the phenotype was initially listed as epileptic encephalopathy and only one biallelic case has been reported with this phenotype. However, other fetal phenotypes are associated with both monoallelic and biallelic GRIN1 variants in Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254 and Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820.; Changed rating: GREEN
Fetal anomalies v1.716 GRIN1 Sarah Leigh changed review comment from: Comment on mode of inheritance: The Q3_21_MOI tag has been added to this gene as the MOI should be changed to - BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.; to: Comment on mode of inheritance: The Q3_21_MOI tag has been added to this gene as the MOI should be changed to - BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Fetal anomalies v1.716 GRIN1 Sarah Leigh Phenotypes for gene: GRIN1 were changed from EPILEPTIC ENCEPHALOPATHY to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; intellectual disability, autosomal dominant 8 MONDO:0013655; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820; neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
Fetal anomalies v1.715 GRIN1 Sarah Leigh Added comment: Comment on mode of inheritance: The Q3_21_MOI tag has been added to this gene as the MOI should be changed to - BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Fetal anomalies v1.715 GRIN1 Sarah Leigh Mode of inheritance for gene: GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.714 GRIN1 Sarah Leigh Tag Q3_21_MOI tag was added to gene: GRIN1.
Fetal anomalies v1.714 GNB1 Sarah Leigh Phenotypes for gene: GNB1 were changed from Severe Neurodevelopmental Disability, Hypotonia, and Seizures to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855
Fetal anomalies v1.713 CNTN1 Arina Puzriakova changed review comment from: Comment on list classification: Upgraded from Red to Amber as two families with homozygous variants and a relevant phenotype have now been reported in literature.; to: Comment on list classification: Rating Amber as two families with homozygous variants have now been reported in literature. Both display fetally-relevant phenotypes such as fetal akinesia, polyhydramnios, and contractures.
Fetal anomalies v1.713 CNTN1 Arina Puzriakova Entity copied from Arthrogryposis v3.122
Fetal anomalies v1.713 CNTN1 Arina Puzriakova gene: CNTN1 was added
gene: CNTN1 was added to Fetal anomalies. Sources: Expert list,Radboud University Medical Center, Nijmegen,Expert Review Amber
Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTN1 were set to 19026398; 32779773
Phenotypes for gene: CNTN1 were set to Myopathy, congenital, Compton-North, OMIM:612540
Penetrance for gene: CNTN1 were set to Complete
Fetal anomalies v1.712 FGF8 Zornitza Stark reviewed gene: FGF8: Rating: AMBER; Mode of pathogenicity: None; Publications: 34433009; Phenotypes: Femoral hypoplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.712 FOXE3 Eleanor Williams Phenotypes for gene: FOXE3 were changed from Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA; ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS
Fetal anomalies v1.711 FOXE3 Eleanor Williams Added comment: Comment on mode of inheritance: Monoallleic cases related to Aortic aneurysm, familial thoracic 11, susceptibility to and to some cases with an eye phenotype. Biallelic cases associated with an eye phenotype.
Fetal anomalies v1.711 FOXE3 Eleanor Williams Mode of inheritance for gene: FOXE3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.710 FOXE3 Eleanor Williams Phenotypes for gene: FOXE3 were changed from ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; CONGENITAL PRIMARY APHAKIA to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA
Fetal anomalies v1.709 EML1 Arina Puzriakova Phenotypes for gene: EML1 were changed from Band heterotopia, 600348 to Band heterotopia, OMIM:600348
Fetal anomalies v1.708 GBE1 Arina Puzriakova Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV; Polyglucosan body disease, adult form; Fetal akinesia deformation sequence to Glycogen storage disease IV, OMIM:232500; Fetal akinesia deformation sequence
Fetal anomalies v1.707 GALC Arina Puzriakova Phenotypes for gene: GALC were changed from KRABBE DISEASE to Krabbe disease, OMIM:245200
Fetal anomalies v1.706 WDR91 Arina Puzriakova Publications for gene: WDR91 were set to 32732226
Fetal anomalies v1.705 PRKD1 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI was reassessed following a recent review by Zornitza Stark highlighting the potential involvement of biallelic variants. Currently the evidence for biallelic inheritance only suffices for an Amber rating and so I have kept the MOI as monoallelic but with a 'watchlist_MOI' tag to monitor for additional evidence. The Genomics England pipeline would still pick up biallelic cases under the current MOI.
Fetal anomalies v1.705 PRKD1 Arina Puzriakova Mode of inheritance for gene: PRKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.704 PRKD1 Arina Puzriakova Publications for gene: PRKD1 were set to
Fetal anomalies v1.703 PRKD1 Arina Puzriakova Tag watchlist_moi tag was added to gene: PRKD1.
Fetal anomalies v1.703 COL4A2 Arina Puzriakova Publications for gene: COL4A2 were set to
Fetal anomalies v1.702 COL4A2 Arina Puzriakova reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.702 COL4A1 Arina Puzriakova reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.702 COL4A1 Arina Puzriakova Publications for gene: COL4A1 were set to
Fetal anomalies v1.701 KIF1A Arina Puzriakova Phenotypes for gene: KIF1A were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; NEUROPATHY, HEREDITARY SENSORY, TYPE IIC to NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213; NESCAV SYNDROME, 614255
Fetal anomalies v1.700 TBX4 Ivone Leong Phenotypes for gene: TBX4 were changed from SMALL PATELLA SYNDROME to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
Fetal anomalies v1.699 TWIST2 Ivone Leong Added comment: Comment on phenotypes: Also associated with Focal facial dermal dysplasia 3, Setleis type, OMIM:227260
Fetal anomalies v1.699 TWIST2 Ivone Leong Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME; SETLEIS SYNDROME; Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885 to Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885
Fetal anomalies v1.698 WNT1 Ivone Leong Phenotypes for gene: WNT1 were changed from OSTEOGENESIS IMPERFECTA to Osteogenesis imperfecta, type XV, OMIM:615220
Fetal anomalies v1.697 SMAD3 Eleanor Williams commented on gene: SMAD3
Fetal anomalies v1.697 BMPR1B Arina Puzriakova Phenotypes for gene: BMPR1B were changed from Acromesomelic dysplasia, Demirhan type, OMIM:609441; Brachydactyly, type A1, D, OMIM:616849; Brachydactyly, type A2, OMIM:112600 to Acromesomelic dysplasia, Demirhan type, OMIM:609441
Fetal anomalies v1.696 BMPR1B Arina Puzriakova Added comment: Comment on mode of inheritance: Biallelic variants lead to the Demirhan type of acromesomelic dysplasia (MIM# 609441) which is pertinent to this panel. Monoallelic variants cause brachydactyly (MIM# 616849 and MIM# 112600) with dysplasia of only a single or few phalanges which would be difficult to diagnose prenatally. For this reason the MOI should remain as biallelic only on this panel.
Fetal anomalies v1.696 BMPR1B Arina Puzriakova Mode of inheritance for gene: BMPR1B was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.695 BMPR1B Arina Puzriakova Phenotypes for gene: BMPR1B were changed from BRACHYDACTYLY TYPE A2 to Acromesomelic dysplasia, Demirhan type, OMIM:609441; Brachydactyly, type A1, D, OMIM:616849; Brachydactyly, type A2, OMIM:112600
Fetal anomalies v1.694 PLG Arina Puzriakova Phenotypes for gene: PLG were changed from Plasminogen deficiency, type I, OMIM:217090; Hypoplasminogenemia, MONDO:0009009 to Plasminogen deficiency, type I, OMIM:217090; Dysplasminogenemia, OMIM:217090
Fetal anomalies v1.693 ASPH Ivone Leong Added comment: Comment on phenotypes: Previously:
FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
Fetal anomalies v1.693 ASPH Ivone Leong Phenotypes for gene: ASPH were changed from FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS to Traboulsi syndrome, OMIM:601552
Fetal anomalies v1.692 MYOD1 Ivone Leong Tag Q3_21_rating was removed from gene: MYOD1.
Tag watchlist tag was added to gene: MYOD1.
Fetal anomalies v1.692 MYOD1 Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics) on Congenital myopathy panel. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association on this panel (Fetal anomalies). Therefore, this gene has been given an Amber rating.
Fetal anomalies v1.692 MYOD1 Ivone Leong Entity copied from Congenital myopathy v2.56
Fetal anomalies v1.692 MYOD1 Ivone Leong gene: MYOD1 was added
gene: MYOD1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Q3_21_rating tags were added to gene: MYOD1.
Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYOD1 were set to 26733463; 30403323; 31260566
Phenotypes for gene: MYOD1 were set to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975
Fetal anomalies v1.691 WNT10B Ivone Leong Phenotypes for gene: WNT10B were changed from Split-hand/foot malformation 6, OMIM:225300 to Split-hand/foot malformation 6, OMIM:225300
Fetal anomalies v1.690 WNT10B Ivone Leong Phenotypes for gene: WNT10B were changed from SPLIT-HAND/FOOT MALFORMATION TYPE 6 to Split-hand/foot malformation 6, OMIM:225300
Fetal anomalies v1.689 DMPK_CTG Arina Puzriakova Tag STR tag was added to STR: DMPK_CTG.
Tag Q3_21_rating tag was added to STR: DMPK_CTG.
Tag Q3_21_expert_review tag was added to STR: DMPK_CTG.
Fetal anomalies v1.689 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Amber List (moderate evidence)
Fetal anomalies v1.689 DMPK_CTG Arina Puzriakova Added comment: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. The DMPK gene was demoted and this STR was added to this panel to ensure that cases are appropriately detected.

Only relevant prenatally if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.
Fetal anomalies v1.689 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.688 DMPK_CTG Arina Puzriakova Entity copied from Skeletal muscle channelopathy v1.31
Fetal anomalies v1.688 DMPK_CTG Arina Puzriakova STR: DMPK_CTG was added
STR: DMPK_CTG was added to Fetal anomalies. Sources: Expert Review Green,Expert list
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DMPK_CTG were set to 7825566
Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1, OMIM:160900
Fetal anomalies v1.687 DMPK Arina Puzriakova changed review comment from: Comment on list classification: This gene should be demoted from Green to Red at the next GMS review due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.; to: Comment on list classification: This gene should be demoted from Green to Red at the next GMS review due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.

DMPK_CTG STR will be added to the panel to capture this entity and ensure that cases are detected.
Fetal anomalies v1.687 DMPK Arina Puzriakova Classified gene: DMPK as Green List (high evidence)
Fetal anomalies v1.687 DMPK Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red at the next GMS review due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.
Fetal anomalies v1.687 DMPK Arina Puzriakova Gene: dmpk has been classified as Green List (High Evidence).
Fetal anomalies v1.686 DMPK Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: DMPK.
Tag currently-ngs-unreportable tag was added to gene: DMPK.
Tag Q3_21_rating tag was added to gene: DMPK.
Fetal anomalies v1.686 WBP11 Ivone Leong Phenotypes for gene: WBP11 were changed from malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227
Fetal anomalies v1.685 TMEM94 Ivone Leong Phenotypes for gene: TMEM94 were changed from Intellectual developmental disorder with cardiac defects and dysmorphic facies to Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
Fetal anomalies v1.684 ATAD3A Arina Puzriakova Publications for gene: ATAD3A were set to 27640307; 28327206
Fetal anomalies v1.683 ATAD3A Arina Puzriakova Phenotypes for gene: ATAD3A were changed from ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Harel-Yoon syndrome, 617183 to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Harel-Yoon syndrome, OMIM:617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
Fetal anomalies v1.682 ATAD3A Arina Puzriakova Tag watchlist was removed from gene: ATAD3A.
Tag Q3_21_MOI tag was added to gene: ATAD3A.
Fetal anomalies v1.682 ATAD3A Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' to 'Both mono- and biallelic' at the next GMS panel review.

At least 7 unrelated families have now been reported with biallelic SNVs in ATAD3A, including 5 families with Harel-Yoon syndrome, MIM# 617183 (PMID: 27640307; 32607449; 33845882) and 2 families with neonatal lethal pontocerebellar hypoplasia, MIM# 618810 (PMID: 29053797; 31727539). Both of these phenotypes are pertinent to this panel.
Fetal anomalies v1.682 ATAD3A Arina Puzriakova Mode of inheritance for gene: ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.681 ACTA1 Ivone Leong Phenotypes for gene: ACTA1 were changed from NEMALINE MYOPATHY 3 to Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
Fetal anomalies v1.680 ACOX1 Ivone Leong Phenotypes for gene: ACOX1 were changed from ADRENOLEUKODYSTROPHY PSEUDONEONATAL; Peroxisomal acyl-CoA oxidase deficiency, 264470 to ADRENOLEUKODYSTROPHY PSEUDONEONATAL; Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Fetal anomalies v1.679 DMPK Dmitrijs Rots changed review comment from: Causes myotinic dystonia only due to STR expansion, not SNVs.; to: Causes myotinic dystrophy only due to STR expansion, not SNVs.
Fetal anomalies v1.679 DMPK Dmitrijs Rots reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.679 CELSR1 Arina Puzriakova Phenotypes for gene: CELSR1 were changed from hereditary lymphedema to Lymphatic malformation 9, OMIM:619319
Fetal anomalies v1.678 POLR3B Arina Puzriakova Phenotypes for gene: POLR3B were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381
Fetal anomalies v1.677 SPTBN5 Arina Puzriakova Phenotypes for gene: SPTBN5 were changed from Multicystic kidney; Oligohydramnios to Multicystic kidney; Oligohydramnios; Sacral agenesis
Fetal anomalies v1.676 SPTBN5 Arina Puzriakova Publications for gene: SPTBN5 were set to 32732226
Fetal anomalies v1.675 SPTBN5 Arina Puzriakova Mode of inheritance for gene: SPTBN5 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Fetal anomalies v1.674 PRKD1 Zornitza Stark reviewed gene: PRKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27479907, 32817298, 25713110, 33919081; Phenotypes: Congenital heart defects and ectodermal dysplasia, 617364, Congenital heart disease, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.674 SPTBN5 Zornitza Stark reviewed gene: SPTBN5: Rating: RED; Mode of pathogenicity: None; Publications: 28007035; Phenotypes: Sacral agenesis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.674 WDR91 Zornitza Stark reviewed gene: WDR91: Rating: AMBER; Mode of pathogenicity: None; Publications: 34028500, 28860274; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.674 SMARCC1 Arina Puzriakova commented on gene: SMARCC1: Penetrance for gene SMARCC1 was set from None to Incomplete
Fetal anomalies v1.674 FOXG1 Sarah Leigh Publications for gene: FOXG1 were set to
Fetal anomalies v1.673 FOXG1 Sarah Leigh Phenotypes for gene: FOXG1 were changed from CONGENITAL VARIANT OF RETT SYNDROME to Rett Syndrome, congenital variant OMIM:613454; Rett syndrome, congenital variant MONDO:0013270
Fetal anomalies v1.672 ZNF3 Arina Puzriakova gene: ZNF3 was added
gene: ZNF3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF3 were set to 32732226
Phenotypes for gene: ZNF3 were set to Hydrocephaly; Facial cleft
Review for gene: ZNF3 was set to RED
Added comment: Novel candidate gene identified in a fetus with hydrocephaly and facial cleft detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including a median cleft palate, partial maxillar agenesis, bilateral severe microphthalmia, arhinencephaly, partial thalamic fusion. A homozygous truncating variant (c.396A>G/ p.*132Trpext*69) in ZNF3 was found by exome sequencing.
Sources: Literature
Fetal anomalies v1.671 WDR91 Arina Puzriakova gene: WDR91 was added
gene: WDR91 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WDR91 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR91 were set to 32732226
Phenotypes for gene: WDR91 were set to Hygroma; Hydrocephaly
Review for gene: WDR91 was set to RED
Added comment: Novel candidate gene identified in a fetus with hygroma and hydrocephaly detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, and interventricular communication. A homozygous truncating variant was found by exome sequencing with concordant segregation among 4 affected fetus, 2 healthy sibs and both parents
Sources: Literature
Fetal anomalies v1.670 SPTBN5 Arina Puzriakova gene: SPTBN5 was added
gene: SPTBN5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SPTBN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN5 were set to 32732226
Phenotypes for gene: SPTBN5 were set to Multicystic kidney; Oligohydramnios
Review for gene: SPTBN5 was set to RED
Added comment: Novel candidate gene identified in a fetus with multicystic kidney and oligohydramnios detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis. Compound heterozygous variants including a truncating variant were found by exome sequencing.
Sources: Literature
Fetal anomalies v1.669 SCN7A Arina Puzriakova gene: SCN7A was added
gene: SCN7A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SCN7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCN7A were set to 32732226
Phenotypes for gene: SCN7A were set to Holoprosencephaly
Review for gene: SCN7A was set to RED
Added comment: Novel candidate gene identified in a fetus with holoprosencephaly detected by ultrasound. Autopsy showed multiple congenital abnormalities including IUGR, microcephaly, bilateral, ablepharon, corpus callosum agenesis, myelomeningocele, tracheal atresia, absent nipples, unilateral simian crease, and hypoplastic phalanges. Compound heterozygous variants including a truncating variant were found by exome sequencing with concordant segregation.
Sources: Literature
Fetal anomalies v1.668 MYBPC2 Arina Puzriakova gene: MYBPC2 was added
gene: MYBPC2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBPC2 were set to 32732226
Phenotypes for gene: MYBPC2 were set to Fetal akinesia; Hydrops; Hygroma; Multiple pterygium
Review for gene: MYBPC2 was set to RED
Added comment: Novel candidate gene identified in a fetus with fetal akinesia detected by ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, hygroma, multiple pterygium. A homozygous variant (c.3394G>A/ p.Glu1132Lys) in MYBPC2 was found by exome sequencing with concordant segregation among one affected sib and two unaffected sibs.
Sources: Literature
Fetal anomalies v1.667 DNAH2 Arina Puzriakova changed review comment from: Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found exome sequencing.
Sources: Literature; to: Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found by exome sequencing.
Sources: Literature
Fetal anomalies v1.667 DNAH2 Arina Puzriakova gene: DNAH2 was added
gene: DNAH2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH2 were set to 32732226
Phenotypes for gene: DNAH2 were set to Hydrops; Complex cardiopathy
Review for gene: DNAH2 was set to RED
Added comment: Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found exome sequencing.
Sources: Literature
Fetal anomalies v1.666 SMARCC1 Arina Puzriakova Penetrance for gene SMARCC1 was set from to None
Fetal anomalies v1.665 SMARCC1 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to rate this gene as Green at the next GMS panel update.

At least 9 unrelated families with different heterozygous variants in the SMARCC1 gene (PMID: 29983323; 32732226; 33077954). Note there is reduced penetrance as 4 variants were transmitted from an unaffected parent (3 variants occurred de novo; 1 was unphased). All affected individuals presented congenital hydrocephalus and aqueductal stenosis. Other variable features include corpus callosum abnormalities, septal agenesis, developmental delay, along with cardiac and skeletal abnormalities.; to: Comment on list classification: There is sufficient evidence to rate this gene as Green at the next GMS panel update - sufficient cases (>3) of congenital hydrocephaly which may conceivably be detected prenatally.

At least 9 unrelated families with different heterozygous variants in the SMARCC1 gene (PMID: 29983323; 32732226; 33077954). Note there is reduced penetrance as 4 variants were transmitted from an unaffected parent (3 variants occurred de novo; 1 was unphased). All affected individuals presented congenital hydrocephalus and aqueductal stenosis. Other variable features include corpus callosum abnormalities, septal agenesis, developmental delay, along with cardiac and skeletal abnormalities.
Fetal anomalies v1.665 SMARCC1 Arina Puzriakova Entity copied from Hydrocephalus v2.104
Fetal anomalies v1.665 SMARCC1 Arina Puzriakova gene: SMARCC1 was added
gene: SMARCC1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Q2_21_rating tags were added to gene: SMARCC1.
Mode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC1 were set to 24170322; 29983323; 32732226; 33077954
Phenotypes for gene: SMARCC1 were set to Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities
Fetal anomalies v1.664 DPH1 Arina Puzriakova Classified gene: DPH1 as Amber List (moderate evidence)
Fetal anomalies v1.664 DPH1 Arina Puzriakova Added comment: Comment on list classification: There are sufficient cases of fetally-relevant phenotypes from unrelated families to warrant a Green rating on this panel.
Fetal anomalies v1.664 DPH1 Arina Puzriakova Gene: dph1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.663 DPH1 Arina Puzriakova gene: DPH1 was added
gene: DPH1 was added to Fetal anomalies. Sources: Literature
Q2_21_rating tags were added to gene: DPH1.
Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPH1 were set to 25558065; 29362492; 30877278; 32732226
Phenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901
Review for gene: DPH1 was set to GREEN
Added comment: Biallelic variants in this gene cause a neurodevelopmental disorder characterised by ID/DD, short stature, dysmorphic features, craniofacial and ectodermal anomalies. Several reports note antenatal anomalies and multiple congenital abnormalities that may conceivably be detected prenatally.

Fetal ultrasound phenotypes reported in literature include IUGR, polyhydramnios, craniostenosis, cardiac abnormalities, brain anomalies, and polydactyly (PMID: 25558065; 29362492; 30877278; 32732226)
Sources: Literature
Fetal anomalies v1.662 RFWD3 Arina Puzriakova Classified gene: RFWD3 as Red List (low evidence)
Fetal anomalies v1.662 RFWD3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). To date, only a single patient has been reported in PMID: 28691929 - rating Red awaiting further cases.
Fetal anomalies v1.662 RFWD3 Arina Puzriakova Gene: rfwd3 has been classified as Red List (Low Evidence).
Fetal anomalies v1.661 RFWD3 Arina Puzriakova Publications for gene: RFWD3 were set to PMID: 2869192
Fetal anomalies v1.660 RFWD3 Arina Puzriakova Phenotypes for gene: RFWD3 were changed from Fanconi anaemia to ?Fanconi anemia, complementation group W, OMIM:617784
Fetal anomalies v1.659 FKBP8 Arina Puzriakova Mode of inheritance for gene: FKBP8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.658 FKBP8 Arina Puzriakova Classified gene: FKBP8 as Amber List (moderate evidence)
Fetal anomalies v1.658 FKBP8 Arina Puzriakova Added comment: Comment on list classification: Additional publication identified by Rhiannon Mellis (GOSH) describing a fetus with severe thoracolumbar scoliosis and caudal spinal cord agenesis and a homozygous (c.C572T:p.P191L) variant in FKBP8 (PMID: 29261186). Note the phenotype and MOI are distinct from other reports (PMID: 32969478).

FKBP8 remains a candidate gene and so maintaining Amber rating in anticipation of additional cases to corroborate pathogenicity.
Fetal anomalies v1.658 FKBP8 Arina Puzriakova Gene: fkbp8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.657 FKBP8 Arina Puzriakova Phenotypes for gene: FKBP8 were changed from spina bifida HP:0002414 to Spina bifida, HP:0002414; Vertebral segmentation defects
Fetal anomalies v1.656 FKBP8 Arina Puzriakova Publications for gene: FKBP8 were set to 32969478
Fetal anomalies v1.655 PLD1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: PLD1.
Fetal anomalies v1.655 PLD1 Arina Puzriakova Publications for gene: PLD1 were set to 33645542
Fetal anomalies v1.654 PLD1 Arina Puzriakova Classified gene: PLD1 as Amber List (moderate evidence)
Fetal anomalies v1.654 PLD1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Suzanne Drury (Congenica). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a fetally-relevant gene-disease association. This gene should be rated Green at the next review.
Fetal anomalies v1.654 PLD1 Arina Puzriakova Gene: pld1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.653 PLD1 Arina Puzriakova Phenotypes for gene: PLD1 were changed from HP:0001654; HP:0001627; HP:0001638 to Cardiac valvular defect, developmental, OMIM:212093
Fetal anomalies v1.652 CLTC Arina Puzriakova reviewed gene: CLTC: Rating: ; Mode of pathogenicity: None; Publications: 33743358; Phenotypes: Mental retardation, autosomal dominant 56, OMIM:617854; Mode of inheritance: None
Fetal anomalies v1.652 CLTC Arina Puzriakova Phenotypes for gene: CLTC were changed from Epilepsy and intellectual disability to Mental retardation, autosomal dominant 56, OMIM:617854; Fetal akinesia; Fetal growth restriction
Fetal anomalies v1.651 TSEN54 Arina Puzriakova Publications for gene: TSEN54 were set to
Fetal anomalies v1.650 TSEN54 Arina Puzriakova Phenotypes for gene: TSEN54 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4; Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753 to ?Pontocerebellar hypoplasia type 5, OMIM:610204; Pontocerebellar hypoplasia type 2A, OMIM:277470; Pontocerebellar hypoplasia type 4, OMIM:225753
Fetal anomalies v1.649 CLTC Arina Puzriakova Publications for gene: CLTC were set to
Fetal anomalies v1.648 RFWD3 Rhiannon Mellis gene: RFWD3 was added
gene: RFWD3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFWD3 were set to PMID: 2869192
Phenotypes for gene: RFWD3 were set to Fanconi anaemia
Review for gene: RFWD3 was set to RED
Added comment: Fetally relevant phenotype but only one case reported in literature so far so await further cases.

(In the single reported case, the child had: intrauterine growth retardation, duodenal atresia, radial ray malformations, bilateral absent thumbs, small midface, ventriculomegaly, hypoplastic left kidney, and polysplenia. Brain MRI showed rarefied periventricular white matter, narrow corpus callosum, abnormal pituitary, and Chiari malformation type I)
Sources: Literature
Fetal anomalies v1.648 OCRL Eleanor Williams Phenotypes for gene: OCRL were changed from DENT DISEASE TYPE 2; LOWE OCULOCEREBRORENAL SYNDROME to Dent disease 2, OMIM:300555; Lowe syndrome, OMIM:309000
Fetal anomalies v1.647 OCRL Eleanor Williams Publications for gene: OCRL were set to
Fetal anomalies v1.646 OCRL Eleanor Williams reviewed gene: OCRL: Rating: ; Mode of pathogenicity: None; Publications: 33517444; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.646 FOXP4 Ivone Leong Tag Q2_21_rating was removed from gene: FOXP4.
Fetal anomalies v1.646 FOXP4 Ivone Leong Classified gene: FOXP4 as Amber List (moderate evidence)
Fetal anomalies v1.646 FOXP4 Ivone Leong Gene: foxp4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.645 FOXP4 Ivone Leong gene: FOXP4 was added
gene: FOXP4 was added to Fetal anomalies. Sources: Literature
Q2_21_rating, Q2_21_phenotype tags were added to gene: FOXP4.
Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXP4 were set to 33110267
Phenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities
Review for gene: FOXP4 was set to AMBER
Added comment: This gene is associated with a phenotype in Gene2Phenotype but not in OMIM.

This gene is present as an Amber gene on the Intellectual disability panel (Version 3.1052) with the following reviews:

"This gene is a little bit difficult to place, may be Green on Fetal Anomalies panel? Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early speech and language delays, hence Amber rating here. Sources: Literature
Zornitza Stark (Australian Genomics), 4 Nov 2020"

"Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). As ID is not present in the majority of affected patients, and the affected individuals only show mild ID, this gene has been given an Amber rating.
Ivone Leong (Genomics England Curator), 4 Dec 2020"

After discussion with the Genomics England Clinical Team it was decided that this gene should be added to this panel as an Amber gene and subject to review by the GMS specialist group.
Sources: Literature
Fetal anomalies v1.644 CHD4 Sarah Leigh Added comment: Comment on phenotypes: Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Fetal anomalies v1.644 CHD4 Sarah Leigh Phenotypes for gene: CHD4 were changed from Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease to Sifrim-Hitz-Weiss syndrome OMIM:617159; Sifrim-Hitz-Weiss syndrome MONDO:0014946
Fetal anomalies v1.643 FBN2 Sarah Leigh reviewed gene: FBN2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.643 FBN2 Sarah Leigh Phenotypes for gene: FBN2 were changed from CONGENITAL CONTRACTURAL ARACHNODACTYLY to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363
Fetal anomalies v1.642 FBN2 Sarah Leigh Publications for gene: FBN2 were set to
Fetal anomalies v1.641 FBN2 Sarah Leigh Tag Q2_21_MOI tag was added to gene: FBN2.
Fetal anomalies v1.641 FKBP8 Rhiannon Mellis reviewed gene: FKBP8: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29261186; Phenotypes: Vertebral segmentation defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.641 EBF3 Sarah Leigh Added comment: Comment on phenotypes: Intellectual Disability, Ataxia, and Facial Dysmorphism
Fetal anomalies v1.641 EBF3 Sarah Leigh Phenotypes for gene: EBF3 were changed from Intellectual Disability, Ataxia, and Facial Dysmorphism to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Fetal anomalies v1.640 FAR1 Arina Puzriakova Phenotypes for gene: FAR1 were changed from SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Fetal anomalies v1.639 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from PERRAULT SYNDROME to Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
Fetal anomalies v1.638 LARS2 Arina Puzriakova Publications for gene: LARS2 were set to
Fetal anomalies v1.637 LARS2 Arina Puzriakova Tag Q2_21_rating tag was added to gene: LARS2.
Fetal anomalies v1.637 LARS2 Arina Puzriakova reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26537577, 32442335; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.637 PLD1 Suzanne Drury gene: PLD1 was added
gene: PLD1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLD1 were set to 33645542
Phenotypes for gene: PLD1 were set to HP:0001654; HP:0001627; HP:0001638
Review for gene: PLD1 was set to GREEN
Added comment: PMID 33645542 identified 30 patients from 21 unrelated families of different ancestries with biallelic PLD1 variants. All 30 patients were diagnosed with severe congenital heart disease or
cardiomyopathy at the fetal or neonatal stage. PLD1 can also cause neonatal cardiomyopathy in the absence of congenital heart defects.
Sources: Literature
Fetal anomalies v1.637 CLTC Suzanne Drury reviewed gene: CLTC: Rating: ; Mode of pathogenicity: None; Publications: PMID:33743358; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.637 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from BARDET-BIEDL SYNDROME TYPE 1 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Fetal anomalies v1.636 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: Changing mode of inheritance to Biallelic with a recommendation for a green rating for this mode of inhertiance as there are now 3 cases with biallelic inheritance and a fetal phenotype.
Fetal anomalies v1.636 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.635 KIDINS220 Zornitza Stark reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 32909676; Phenotypes: limb contractures, ventriculomegaly, stillbirth; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.635 KIDINS220 Eleanor Williams Tag Q2_21_rating tag was added to gene: KIDINS220.
Tag Q2_21_MOI tag was added to gene: KIDINS220.
Fetal anomalies v1.635 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: After consultation with the Genomics England clinical team changing the MOI rating to BOTH monoallelic and biallelic but leaving the amber rating with a recommendation for this gene to be discussed at the next GMS review with regards to the 2 biallelic cases and the partially supportive mouse model.
Fetal anomalies v1.635 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.634 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: Reverting to Monoallelic MOI until consult with Genomics England clinical team.
Fetal anomalies v1.634 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.633 KIDINS220 Eleanor Williams Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity. to Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296; spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007; cerebral ventriculomegaly; limb contractures
Fetal anomalies v1.632 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: Changing MOI from monallelic to BOTH as 2 biallelic cases have now been reported with a more severe phenotype
Fetal anomalies v1.632 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v1.631 KIDINS220 Eleanor Williams Publications for gene: KIDINS220 were set to
Fetal anomalies v1.630 KIDINS220 Eleanor Williams edited their review of gene: KIDINS220: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.630 KIDINS220 Eleanor Williams edited their review of gene: KIDINS220: Changed publications: 33205811, 28934391, 22048169
Fetal anomalies v1.630 KIDINS220 Eleanor Williams changed review comment from: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.; to: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Fetal anomalies v1.630 KIDINS220 Eleanor Williams changed review comment from: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures in the following two publications:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.; to: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Fetal anomalies v1.630 KIDINS220 Eleanor Williams reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: None; Publications: 33205811, 28934391, 28934391; Phenotypes: cerebral ventriculomegaly, limb contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.630 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Anemia, congenital dyserythropoietic, type I 224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Fetal anomalies v1.629 CDAN1 Arina Puzriakova Publications for gene: CDAN1 were set to
Fetal anomalies v1.628 CDAN1 Arina Puzriakova reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30786798, 29668551, 29599085; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, OMIM:224120, Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.628 TTC25 Catherine Snow Tag new-gene-name tag was added to gene: TTC25.
Fetal anomalies v1.628 TTC25 Catherine Snow commented on gene: TTC25
Fetal anomalies v1.628 CCDC151 Catherine Snow Tag new-gene-name tag was added to gene: CCDC151.
Fetal anomalies v1.628 CCDC151 Catherine Snow commented on gene: CCDC151
Fetal anomalies v1.628 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
Fetal anomalies v1.628 ARMC4 Catherine Snow commented on gene: ARMC4
Fetal anomalies v1.628 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
Fetal anomalies v1.628 CCDC114 Catherine Snow commented on gene: CCDC114
Fetal anomalies v1.628 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Fetal anomalies v1.628 C12orf65 Catherine Snow commented on gene: C12orf65
Fetal anomalies v1.628 TCTEX1D2 Catherine Snow Tag new-gene-name tag was added to gene: TCTEX1D2.
Fetal anomalies v1.628 TCTEX1D2 Catherine Snow commented on gene: TCTEX1D2
Fetal anomalies v1.628 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Fetal anomalies v1.628 LRRC6 Catherine Snow commented on gene: LRRC6
Fetal anomalies v1.628 CLP1 Sarah Leigh reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.628 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.
Fetal anomalies v1.628 WBP11 Eleanor Williams Tag Q2_21_rating tag was added to gene: WBP11.
Fetal anomalies v1.628 WBP11 Eleanor Williams Classified gene: WBP11 as Amber List (moderate evidence)
Fetal anomalies v1.628 WBP11 Eleanor Williams Added comment: Comment on list classification: Promoting to amber but with a recommendation for green rating at the next GMS review.
Fetal anomalies v1.628 WBP11 Eleanor Williams Gene: wbp11 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.627 WBP11 Eleanor Williams gene: WBP11 was added
gene: WBP11 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WBP11 were set to 33276377
Phenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Review for gene: WBP11 was set to GREEN
Added comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies.
Sources: Literature
Fetal anomalies v1.626 OTUD5 Arina Puzriakova Classified gene: OTUD5 as Amber List (moderate evidence)
Fetal anomalies v1.626 OTUD5 Arina Puzriakova Added comment: Comment on list classification: At least 8 families reported with a multiple congenital anomaly disorder and distinct hemizygous variants in this gene (PMIDs: 33131077 and 33523931). Phenotype may conceivably be detected prenatally and therefore this gene should be promoted to Green at the next GMS panel update.
Fetal anomalies v1.626 OTUD5 Arina Puzriakova Gene: otud5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.625 OTUD5 Arina Puzriakova gene: OTUD5 was added
gene: OTUD5 was added to Fetal anomalies. Sources: Expert Review
Q2_21_rating tags were added to gene: OTUD5.
Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OTUD5 were set to 33131077; 33523931
Phenotypes for gene: OTUD5 were set to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056
Review for gene: OTUD5 was set to GREEN
Added comment: OTUD5 is associated with a relevant phenotype in OMIM but not yet in Gene2Phenotype.

- PMID: 33131077 (2021) - 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with IUGR, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. WGS in four individuals identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals.

- PMID: 33523931 (2021) - Another 10 individuals from 7 families reported. Key features include poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade.
Sources: Expert Review
Fetal anomalies v1.624 SYNE1 Arina Puzriakova Phenotypes for gene: SYNE1 were changed from SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE to Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484; Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
Fetal anomalies v1.623 SYNE1 Arina Puzriakova Publications for gene: SYNE1 were set to
Fetal anomalies v1.622 SYNE1 Arina Puzriakova Classified gene: SYNE1 as Amber List (moderate evidence)
Fetal anomalies v1.622 SYNE1 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber but there is sufficient evidence to promote to Green at the next GMS panel update - at least 3 unrelated cases with arthrogryposis multiplex congenita (AMC) which may be detected prenatally.
Fetal anomalies v1.622 SYNE1 Arina Puzriakova Gene: syne1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.621 SYNE1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SYNE1.
Fetal anomalies v1.621 SYNE1 Arina Puzriakova reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19542096, 24319099, 27782104; Phenotypes: Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484, Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.621 MYL9 Arina Puzriakova Publications for gene: MYL9 were set to 29453416
Fetal anomalies v1.620 MYL9 Arina Puzriakova Classified gene: MYL9 as Amber List (moderate evidence)
Fetal anomalies v1.620 MYL9 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber as there are now two unrelated families presenting features of MMIHS, associated with different biallelic variants in the MYL9 gene (PMIDs: 29453416; 33031641).

Additional cases/functional evidence required prior to inclusion as diagnostic-grade.
Fetal anomalies v1.620 MYL9 Arina Puzriakova Gene: myl9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.619 GDF6 Arina Puzriakova Phenotypes for gene: GDF6 were changed from MICROPHTHALMIA ISOLATED TYPE 4; KLIPPEL-FEIL SYNDROME TYPE 1 to MICROPHTHALMIA ISOLATED TYPE 4; KLIPPEL-FEIL SYNDROME TYPE 1; Syndromic CAKUT
Fetal anomalies v1.618 GDF6 Arina Puzriakova Publications for gene: GDF6 were set to
Fetal anomalies v1.617 SLC20A1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SLC20A1.
Fetal anomalies v1.617 SLC20A1 Arina Puzriakova Classified gene: SLC20A1 as Amber List (moderate evidence)
Fetal anomalies v1.617 SLC20A1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Amber but there is sufficient evidence to promote to Green.

At least three unrelated families with a BEEC phenotype (fetally-relevant) and different heterozygous variants in this gene (PMID: 32850778). In vitro assays and zebrafish model support pathogenicity.
Fetal anomalies v1.617 SLC20A1 Arina Puzriakova Gene: slc20a1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.616 ISCA-46302-Gain Catherine Snow Classified Region: ISCA-46302-Gain as Amber List (moderate evidence)
Fetal anomalies v1.616 ISCA-46302-Gain Catherine Snow Region: isca-46302-gain has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.615 ISCA-46302-Gain Catherine Snow changed review comment from: Addition of region inline with ClinGen region. Reviewed by GEL clinical for application for panel the phenotype, may escape detection in fetal life. The fetal team have rated the gene NR0B1 green, the CNV should be added too.
Sources: ClinGen; to: Addition of region inline with ClinGen regions classifications. Reviewed by GEL clinical team for panel phenotype, noted that this may escape detection in fetal life, however as the fetal team have rated the gene NR0B1 green, the CNV should be added too.
Sources: ClinGen
Fetal anomalies v1.615 ISCA-46302-Gain Catherine Snow Classified Region: ISCA-46302-Gain as Red List (low evidence)
Fetal anomalies v1.615 ISCA-46302-Gain Catherine Snow Region: isca-46302-gain has been classified as Red List (Low Evidence).
Fetal anomalies v1.614 ISCA-46302-Gain Catherine Snow Region: ISCA-46302-Gain was added
Region: ISCA-46302-Gain was added to Fetal anomalies. Sources: ClinGen
for-review tags were added to Region: ISCA-46302-Gain.
Mode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46302-Gain were set to 22518125; 17504899; 20685758
Phenotypes for Region: ISCA-46302-Gain were set to gonadal dysgenesis
Review for Region: ISCA-46302-Gain was set to AMBER
Added comment: Addition of region inline with ClinGen region. Reviewed by GEL clinical for application for panel the phenotype, may escape detection in fetal life. The fetal team have rated the gene NR0B1 green, the CNV should be added too.
Sources: ClinGen
Fetal anomalies v1.613 SCLT1 Ivone Leong Tag for-review tag was added to gene: SCLT1.
Fetal anomalies v1.613 CASR Ivone Leong Tag for-review tag was added to gene: CASR.
Fetal anomalies v1.613 PRUNE1 Eleanor Williams Publications for gene: PRUNE1 were set to
Fetal anomalies v1.612 SUFU Arina Puzriakova changed review comment from: The patients described by Schroder et al 2020 (PMID: 33024317) display cerebellar abnormalities that were said to be within the milder range of the Joubert clinical spectrum. This gene will be flagged for review by the GMS team with regards to whether these features may conceivably be detected prenatally (added 'for-review' tag).

Note that these individuals harboured heterozygous truncating variants, and monoallelic variants in this gene have also previously been associated with Basal cell nevus syndrome and Medulloblastoma.; to: SUFU was reassessed in line with the recent expert review by Rhiannon Mellis (GOSH). The patients described by Schroder et al 2020 (PMID: 33024317) display cerebellar abnormalities that were said to be within the milder range of the Joubert clinical spectrum. However, it is unclear whether these features may conceivably be detected prenatally and therefore this gene will be flagged for review by the GMS team with regards to phenotypic fit for this panel (added 'for-review' tag).

Note that unlike the 2 Joubert syndrome families with biallelic variants reported by De Mori et al. (2017, PMID: 28965847), these individuals harboured heterozygous truncating variants in the SUFU gene. Monoallelic variants have previously been associated with basal cell nevus syndrome and medulloblastoma, and there was no evidence of tumours in any of the families described by Schroder et al.
Fetal anomalies v1.612 SUFU Arina Puzriakova commented on gene: SUFU
Fetal anomalies v1.612 SUFU Arina Puzriakova Tag for-review tag was added to gene: SUFU.
Fetal anomalies v1.612 SUFU Arina Puzriakova Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects; Basal cell nevus syndrome 109400 to Joubert syndrome 32, OMIM: 617757; Joubert Syndrome with Cranio-facial and Skeletal Defects
Fetal anomalies v1.611 SUFU Arina Puzriakova Publications for gene: SUFU were set to 28965847
Fetal anomalies v1.610 SUFU Arina Puzriakova Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v1.609 SMPD4 Arina Puzriakova Phenotypes for gene: SMPD4 were changed from Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622; Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, MONDO:0032838
Fetal anomalies v1.608 SMPD4 Arina Puzriakova Publications for gene: SMPD4 were set to PMID: 31495489
Fetal anomalies v1.607 SLC29A3 Arina Puzriakova Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782; H syndrome, MONDO:0011273
Fetal anomalies v1.606 SLC18A3 Arina Puzriakova Phenotypes for gene: SLC18A3 were changed from Myasthenic syndrome, congenital, 21, presynaptic to Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239; Congenital myasthenic syndrome 21, MONDO:0014983
Fetal anomalies v1.605 SLC18A3 Arina Puzriakova Publications for gene: SLC18A3 were set to PMID: 31059209
Fetal anomalies v1.604 SIX6 Arina Puzriakova Phenotypes for gene: SIX6 were changed from Optic disc anomalies with retinal and/or macular dystrophy to Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550; Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, MONDO:0008927
Fetal anomalies v1.603 SMPD4 Arina Puzriakova Classified gene: SMPD4 as Amber List (moderate evidence)
Fetal anomalies v1.603 SMPD4 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.603 SMPD4 Arina Puzriakova Gene: smpd4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.602 SMPD4 Arina Puzriakova Tag for-review tag was added to gene: SMPD4.
Fetal anomalies v1.602 SLC29A3 Arina Puzriakova Classified gene: SLC29A3 as Amber List (moderate evidence)
Fetal anomalies v1.602 SLC29A3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.602 SLC29A3 Arina Puzriakova Gene: slc29a3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.601 SLC29A3 Arina Puzriakova Tag for-review tag was added to gene: SLC29A3.
Fetal anomalies v1.601 SLC18A3 Arina Puzriakova Classified gene: SLC18A3 as Amber List (moderate evidence)
Fetal anomalies v1.601 SLC18A3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.601 SLC18A3 Arina Puzriakova Gene: slc18a3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.600 SLC18A3 Arina Puzriakova Tag for-review tag was added to gene: SLC18A3.
Fetal anomalies v1.600 SIX6 Arina Puzriakova Classified gene: SIX6 as Amber List (moderate evidence)
Fetal anomalies v1.600 SIX6 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.600 SIX6 Arina Puzriakova Gene: six6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.599 SIX6 Arina Puzriakova Tag for-review tag was added to gene: SIX6.
Fetal anomalies v1.599 SLC5A7 Arina Puzriakova Phenotypes for gene: SLC5A7 were changed from Congenital Myasthenic Syndrome with Episodic Apnea to Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143; Congenital myasthenic syndrome 20, MONDO:0014939
Fetal anomalies v1.598 TSFM Catherine Snow Publications for gene: TSFM were set to
Fetal anomalies v1.597 SLC5A7 Arina Puzriakova Publications for gene: SLC5A7 were set to
Fetal anomalies v1.596 SLC5A7 Arina Puzriakova Classified gene: SLC5A7 as Amber List (moderate evidence)
Fetal anomalies v1.596 SLC5A7 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.596 SLC5A7 Arina Puzriakova Gene: slc5a7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.595 SLC5A7 Arina Puzriakova Tag for-review tag was added to gene: SLC5A7.
Fetal anomalies v1.595 SMS Arina Puzriakova Phenotypes for gene: SMS were changed from SNYDER-ROBINSON SYNDROME to Mental retardation, X-linked, Snyder-Robinson type, OMIM:309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Fetal anomalies v1.594 TSFM Catherine Snow Tag for-review tag was added to gene: TSFM.
Fetal anomalies v1.594 SLC25A19 Arina Puzriakova Phenotypes for gene: SLC25A19 were changed from AMISH LETHAL MICROCEPHALY to Microcephaly, Amish type, OMIM:607196; Amish lethal microcephaly, MONDO:0011790
Fetal anomalies v1.593 TSFM Catherine Snow Classified gene: TSFM as Amber List (moderate evidence)
Fetal anomalies v1.593 TSFM Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.593 TSFM Catherine Snow Gene: tsfm has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.592 SMS Arina Puzriakova Classified gene: SMS as Amber List (moderate evidence)
Fetal anomalies v1.592 SMS Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.592 SMS Arina Puzriakova Gene: sms has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.591 TSEN34 Catherine Snow Tag for-review tag was added to gene: TSEN34.
Fetal anomalies v1.591 SMS Arina Puzriakova Tag for-review tag was added to gene: SMS.
Fetal anomalies v1.591 SLC25A19 Arina Puzriakova Classified gene: SLC25A19 as Amber List (moderate evidence)
Fetal anomalies v1.591 SLC25A19 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.591 SLC25A19 Arina Puzriakova Gene: slc25a19 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.590 TSEN34 Catherine Snow Classified gene: TSEN34 as Amber List (moderate evidence)
Fetal anomalies v1.590 TSEN34 Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.590 TSEN34 Catherine Snow Gene: tsen34 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.589 SLC25A19 Arina Puzriakova Tag for-review tag was added to gene: SLC25A19.
Fetal anomalies v1.589 SHANK3 Arina Puzriakova Phenotypes for gene: SHANK3 were changed from PHELAN-MCDERMID SYNDROME to Phelan-McDermid syndrome, OMIM:606232; Phelan-McDermid syndrome, MONDO:0011652
Fetal anomalies v1.588 SHANK3 Arina Puzriakova Classified gene: SHANK3 as Amber List (moderate evidence)
Fetal anomalies v1.588 SHANK3 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.588 SHANK3 Arina Puzriakova Gene: shank3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.587 TSEN2 Catherine Snow Tag for-review tag was added to gene: TSEN2.
Fetal anomalies v1.587 SHANK3 Arina Puzriakova Tag for-review tag was added to gene: SHANK3.
Fetal anomalies v1.587 TSEN2 Catherine Snow Classified gene: TSEN2 as Amber List (moderate evidence)
Fetal anomalies v1.587 TSEN2 Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.587 TSEN2 Catherine Snow Gene: tsen2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.586 SGCG Arina Puzriakova Phenotypes for gene: SGCG were changed from Muscular dystrophy, limb-girdle, autosomal recessive 5 to Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700; Autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677
Fetal anomalies v1.585 TRMT10A Catherine Snow Tag for-review tag was added to gene: TRMT10A.
Fetal anomalies v1.585 TRMT10A Catherine Snow Classified gene: TRMT10A as Amber List (moderate evidence)
Fetal anomalies v1.585 TRMT10A Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.585 TRMT10A Catherine Snow Gene: trmt10a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.584 SERPINH1 Arina Puzriakova Phenotypes for gene: SERPINH1 were changed from Osteogenesis imperfecta, type X to Osteogenesis imperfecta, type X, OMIM:613848; Osteogenesis imperfecta type 10, MONDO:0013459
Fetal anomalies v1.583 TRAP1 Catherine Snow Tag for-review tag was added to gene: TRAP1.
Fetal anomalies v1.583 SERPINF1 Arina Puzriakova Phenotypes for gene: SERPINF1 were changed from Osteogenesis imperfecta, type VI to Osteogenesis imperfecta, type VI, OMIM:613982; Osteogenesis imperfecta type 6, MONDO:0013515
Fetal anomalies v1.582 TRAP1 Catherine Snow Publications for gene: TRAP1 were set to
Fetal anomalies v1.581 SGCG Arina Puzriakova Classified gene: SGCG as Amber List (moderate evidence)
Fetal anomalies v1.581 SGCG Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.581 SGCG Arina Puzriakova Gene: sgcg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.580 SGCG Arina Puzriakova Tag for-review tag was added to gene: SGCG.
Fetal anomalies v1.580 SERPINH1 Arina Puzriakova Classified gene: SERPINH1 as Amber List (moderate evidence)
Fetal anomalies v1.580 SERPINH1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.580 SERPINH1 Arina Puzriakova Gene: serpinh1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.579 SERPINH1 Arina Puzriakova Tag for-review tag was added to gene: SERPINH1.
Fetal anomalies v1.579 SERPINF1 Arina Puzriakova Classified gene: SERPINF1 as Amber List (moderate evidence)
Fetal anomalies v1.579 SERPINF1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.579 SERPINF1 Arina Puzriakova Gene: serpinf1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.578 SERPINF1 Arina Puzriakova Tag for-review tag was added to gene: SERPINF1.
Fetal anomalies v1.578 TRAP1 Catherine Snow Classified gene: TRAP1 as Amber List (moderate evidence)
Fetal anomalies v1.578 TRAP1 Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.578 TRAP1 Catherine Snow Gene: trap1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.577 TOE1 Arina Puzriakova Phenotypes for gene: TOE1 were changed from PONTOCEREBELLAR HYPOPLASIA to Pontocerebellar hypoplasia, type 7, OMIM:614969; Pontocerebellar hypoplasia type 7, MONDO:0013993
Fetal anomalies v1.576 TOE1 Arina Puzriakova Classified gene: TOE1 as Amber List (moderate evidence)
Fetal anomalies v1.576 TOE1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.576 TOE1 Arina Puzriakova Gene: toe1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.575 TOE1 Arina Puzriakova Tag for-review tag was added to gene: TOE1.
Fetal anomalies v1.575 TRAIP Catherine Snow Publications for gene: TRAIP were set to
Fetal anomalies v1.574 TRAIP Catherine Snow Classified gene: TRAIP as Amber List (moderate evidence)
Fetal anomalies v1.574 TRAIP Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.574 TRAIP Catherine Snow Gene: traip has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.573 TRAIP Catherine Snow Tag for-review tag was added to gene: TRAIP.
Fetal anomalies v1.573 TRAIP Catherine Snow Phenotypes for gene: TRAIP were changed from PRIMORDIAL DWARFISM to Seckel syndrome 9
Fetal anomalies v1.572 TELO2 Arina Puzriakova Phenotypes for gene: TELO2 were changed from TELO2 Syndromic Intellectual Disability Disorder to You-Hoover-Fong syndrome, OMIM:616954; TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848
Fetal anomalies v1.571 TELO2 Arina Puzriakova Classified gene: TELO2 as Amber List (moderate evidence)
Fetal anomalies v1.571 TELO2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.571 TELO2 Arina Puzriakova Gene: telo2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.570 TELO2 Arina Puzriakova Tag for-review tag was added to gene: TELO2.
Fetal anomalies v1.570 TRAF3IP1 Catherine Snow Tag for-review tag was added to gene: TRAF3IP1.
Fetal anomalies v1.570 TRAF3IP1 Catherine Snow Classified gene: TRAF3IP1 as Amber List (moderate evidence)
Fetal anomalies v1.570 TRAF3IP1 Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.570 TRAF3IP1 Catherine Snow Gene: traf3ip1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.569 STIL Arina Puzriakova Phenotypes for gene: STIL were changed from MICROCEPHALY PRIMARY TYPE 7 to Microcephaly 7, primary, autosomal recessive, OMIM:612703; Microcephaly 7, primary, autosomal recessive, MONDO:0012989
Fetal anomalies v1.568 STIL Arina Puzriakova Publications for gene: STIL were set to
Fetal anomalies v1.567 STIL Arina Puzriakova Classified gene: STIL as Amber List (moderate evidence)
Fetal anomalies v1.567 STIL Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.567 STIL Arina Puzriakova Gene: stil has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.566 STIL Arina Puzriakova Tag for-review tag was added to gene: STIL.
Fetal anomalies v1.566 SPARC Arina Puzriakova Phenotypes for gene: SPARC were changed from OSTEOGENESIS IMPERFECTA, TYPE XVII to Osteogenesis imperfecta, type XVII, OMIM:616507; Osteogenesis imperfecta type 17, MONDO:0014672
Fetal anomalies v1.565 SPECC1L Arina Puzriakova Phenotypes for gene: SPECC1L were changed from FACIAL CLEFTING, OBLIQUE, 1 to ?Facial clefting, oblique, 1, OMIM:600251; Tessier number 4 facial cleft, MONDO:0010850; Hypertelorism, Teebi type, OMIM:145420; Hypertelorism, Teebi type, MONDO:0007780; Opitz GBBB syndrome, type II, OMIM:145410; Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779
Fetal anomalies v1.564 ST14 Arina Puzriakova Phenotypes for gene: ST14 were changed from ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS to Ichthyosis, congenital, autosomal recessive 11, OMIM:602400; Autosomal recessive congenital ichthyosis 11, MONDO:0011218
Fetal anomalies v1.563 ST14 Arina Puzriakova Classified gene: ST14 as Amber List (moderate evidence)
Fetal anomalies v1.563 ST14 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.563 ST14 Arina Puzriakova Gene: st14 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.562 ST14 Arina Puzriakova Tag for-review tag was added to gene: ST14.
Fetal anomalies v1.562 SPECC1L Arina Puzriakova Classified gene: SPECC1L as Amber List (moderate evidence)
Fetal anomalies v1.562 SPECC1L Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.562 SPECC1L Arina Puzriakova Gene: specc1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.561 SPECC1L Arina Puzriakova Tag for-review tag was added to gene: SPECC1L.
Fetal anomalies v1.561 SPARC Arina Puzriakova Classified gene: SPARC as Amber List (moderate evidence)
Fetal anomalies v1.561 SPARC Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.561 SPARC Arina Puzriakova Gene: sparc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.560 SPARC Arina Puzriakova Tag for-review tag was added to gene: SPARC.
Fetal anomalies v1.560 TUBB3 Catherine Snow Publications for gene: TUBB3 were set to
Fetal anomalies v1.559 TUBB3 Catherine Snow Tag for-review tag was added to gene: TUBB3.
Fetal anomalies v1.559 TUBB3 Catherine Snow Classified gene: TUBB3 as Amber List (moderate evidence)
Fetal anomalies v1.559 TUBB3 Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.559 TUBB3 Catherine Snow Gene: tubb3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.558 TUBG1 Catherine Snow Tag for-review tag was added to gene: TUBG1.
Fetal anomalies v1.558 TBC1D32 Arina Puzriakova Classified gene: TBC1D32 as Amber List (moderate evidence)
Fetal anomalies v1.558 TBC1D32 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). There are sufficient unrelated cases with a fetally-relevant phenotype and biallelic variants in TBC1D32 to promoted this gene to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.558 TBC1D32 Arina Puzriakova Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.557 TUBG1 Catherine Snow Classified gene: TUBG1 as Amber List (moderate evidence)
Fetal anomalies v1.557 TUBG1 Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.557 TUBG1 Catherine Snow Gene: tubg1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.556 TUBG1 Catherine Snow Publications for gene: TUBG1 were set to
Fetal anomalies v1.555 TBC1D32 Arina Puzriakova Publications for gene: TBC1D32 were set to PMID: 32573025; 31130284; 32060556
Fetal anomalies v1.554 TUBGCP4 Catherine Snow Publications for gene: TUBGCP4 were set to
Fetal anomalies v1.553 TBC1D32 Arina Puzriakova Tag for-review tag was added to gene: TBC1D32.
Fetal anomalies v1.553 TUBGCP4 Catherine Snow Tag for-review tag was added to gene: TUBGCP4.
Fetal anomalies v1.553 TUBGCP4 Catherine Snow Classified gene: TUBGCP4 as Amber List (moderate evidence)
Fetal anomalies v1.553 TUBGCP4 Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.553 TUBGCP4 Catherine Snow Gene: tubgcp4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.552 TXNDC15 Catherine Snow Tag for-review tag was added to gene: TXNDC15.
Fetal anomalies v1.552 TXNDC15 Catherine Snow Publications for gene: TXNDC15 were set to
Fetal anomalies v1.551 TXNDC15 Catherine Snow Classified gene: TXNDC15 as Amber List (moderate evidence)
Fetal anomalies v1.551 TXNDC15 Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.551 TXNDC15 Catherine Snow Gene: txndc15 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.550 UBE2T Catherine Snow Classified gene: UBE2T as Amber List (moderate evidence)
Fetal anomalies v1.550 UBE2T Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.550 UBE2T Catherine Snow Gene: ube2t has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.549 UBE2T Catherine Snow Tag for-review tag was added to gene: UBE2T.
Fetal anomalies v1.549 UBE2T Catherine Snow Publications for gene: UBE2T were set to
Fetal anomalies v1.548 STRADA Arina Puzriakova Phenotypes for gene: STRADA were changed from Polyhydramnios, megalencephaly, and symptomatic epilepsy to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611
Fetal anomalies v1.547 STRADA Arina Puzriakova Classified gene: STRADA as Amber List (moderate evidence)
Fetal anomalies v1.547 STRADA Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.547 STRADA Arina Puzriakova Gene: strada has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.546 STRADA Arina Puzriakova Tag for-review tag was added to gene: STRADA.
Fetal anomalies v1.546 STAC3 Arina Puzriakova Publications for gene: STAC3 were set to PMID: 30168660
Fetal anomalies v1.545 STAC3 Arina Puzriakova Phenotypes for gene: STAC3 were changed from Myopathy, congenital, Baily-Bloch to Myopathy, congenital, Baily-Bloch, OMIM:255995; Bailey-Bloch congenital myopathy, MONDO:0009722
Fetal anomalies v1.544 STAC3 Arina Puzriakova Classified gene: STAC3 as Amber List (moderate evidence)
Fetal anomalies v1.544 STAC3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.544 STAC3 Arina Puzriakova Gene: stac3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.543 STAC3 Arina Puzriakova Tag for-review tag was added to gene: STAC3.
Fetal anomalies v1.543 SEC24D Ivone Leong commented on gene: SEC24D
Fetal anomalies v1.543 SEC24D Ivone Leong Tag for-review tag was added to gene: SEC24D.
Fetal anomalies v1.543 SP7 Arina Puzriakova Phenotypes for gene: SP7 were changed from Osteogenesis imperfecta, type XII to Osteogenesis imperfecta, type XII, OMIM:613849; Osteogenesis imperfecta type 12, MONDO:0013460
Fetal anomalies v1.542 SOX6 Arina Puzriakova Phenotypes for gene: SOX6 were changed from Tolchin-Le Caignec syndrome to Tolchin-Le Caignec syndrome, OMIM:618971; Tolchin-Le Caignec syndrome, MONDO:0033544
Fetal anomalies v1.541 SOX18 Arina Puzriakova Phenotypes for gene: SOX18 were changed from Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073; Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823; Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914
Fetal anomalies v1.540 SNX10 Arina Puzriakova Phenotypes for gene: SNX10 were changed from Osteopetrosis, autosomal recessive 8 to Osteopetrosis, autosomal recessive 8, OMIM:615085; Autosomal recessive osteopetrosis 8, MONDO:0014040
Fetal anomalies v1.539 SP7 Arina Puzriakova Classified gene: SP7 as Amber List (moderate evidence)
Fetal anomalies v1.539 SP7 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.539 SP7 Arina Puzriakova Gene: sp7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.538 SP7 Arina Puzriakova Tag for-review tag was added to gene: SP7.
Fetal anomalies v1.538 SOX6 Arina Puzriakova Classified gene: SOX6 as Amber List (moderate evidence)
Fetal anomalies v1.538 SOX6 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.538 SOX6 Arina Puzriakova Gene: sox6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.537 SOX6 Arina Puzriakova Tag for-review tag was added to gene: SOX6.
Fetal anomalies v1.537 SOX18 Arina Puzriakova Classified gene: SOX18 as Amber List (moderate evidence)
Fetal anomalies v1.537 SOX18 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.537 SOX18 Arina Puzriakova Gene: sox18 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.536 SOX18 Arina Puzriakova Tag for-review tag was added to gene: SOX18.
Fetal anomalies v1.536 SNX10 Arina Puzriakova Classified gene: SNX10 as Amber List (moderate evidence)
Fetal anomalies v1.536 SNX10 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.536 SNX10 Arina Puzriakova Gene: snx10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.535 SNX10 Arina Puzriakova Tag for-review tag was added to gene: SNX10.
Fetal anomalies v1.535 RPS24 Arina Puzriakova Phenotypes for gene: RPS24 were changed from Diamond-blackfan anemia 3 610629 to Diamond-blackfan anemia 3, OMIM:610629; Diamond-Blackfan anemia 3, MONDO:0012529
Fetal anomalies v1.534 RPL35A Arina Puzriakova Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anemia 5 612528 to Diamond-Blackfan anemia 5, OMIM:612528; Diamond-Blackfan anemia 5, MONDO:0012925
Fetal anomalies v1.533 RPS24 Arina Puzriakova Classified gene: RPS24 as Amber List (moderate evidence)
Fetal anomalies v1.533 RPS24 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene has been upgraded from Red to Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.533 RPS24 Arina Puzriakova Gene: rps24 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.532 RPS24 Arina Puzriakova Tag for-review tag was added to gene: RPS24.
Fetal anomalies v1.532 RPL35A Arina Puzriakova Classified gene: RPL35A as Amber List (moderate evidence)
Fetal anomalies v1.532 RPL35A Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene has been upgraded from Red to Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.532 RPL35A Arina Puzriakova Gene: rpl35a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.531 RPL35A Arina Puzriakova Tag for-review tag was added to gene: RPL35A.
Fetal anomalies v1.531 SDR9C7 Ivone Leong Tag for-review tag was added to gene: SDR9C7.
Fetal anomalies v1.531 SDR9C7 Ivone Leong Classified gene: SDR9C7 as Amber List (moderate evidence)
Fetal anomalies v1.531 SDR9C7 Ivone Leong Added comment: Comment on list classification: New gene added by Rhiannon Mellis (Great Ormond Street Hospital).

Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag).
Fetal anomalies v1.531 SDR9C7 Ivone Leong Gene: sdr9c7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.530 SDR9C7 Ivone Leong Phenotypes for gene: SDR9C7 were changed from Ichthyosis, congenital, autosomal recessive 13 to Ichthyosis, congenital, autosomal recessive 13, OMIM:617574
Fetal anomalies v1.529 SCLT1 Ivone Leong Classified gene: SCLT1 as Amber List (moderate evidence)
Fetal anomalies v1.529 SCLT1 Ivone Leong Added comment: Comment on list classification: New gene added by Rhiannon Mellis (Great Ormond Street Hospital).

Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag).
Fetal anomalies v1.529 SCLT1 Ivone Leong Gene: sclt1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.528 SCLT1 Ivone Leong Publications for gene: SCLT1 were set to
Fetal anomalies v1.527 RFT1 Arina Puzriakova Phenotypes for gene: RFT1 were changed from CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N to Congenital disorder of glycosylation, type In, OMIM:612015; RFT1-CDG, MONDO:0012783
Fetal anomalies v1.526 RFT1 Arina Puzriakova Classified gene: RFT1 as Amber List (moderate evidence)
Fetal anomalies v1.526 RFT1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.526 RFT1 Arina Puzriakova Gene: rft1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.525 RSPH9 Ivone Leong Tag for-review tag was added to gene: RSPH9.
Fetal anomalies v1.525 RFT1 Arina Puzriakova Tag for-reivew tag was added to gene: RFT1.
Fetal anomalies v1.525 RSPH9 Ivone Leong Classified gene: RSPH9 as Amber List (moderate evidence)
Fetal anomalies v1.525 RSPH9 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber.

Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag).
Fetal anomalies v1.525 RSPH9 Ivone Leong Gene: rsph9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.524 RBM10 Arina Puzriakova Phenotypes for gene: RBM10 were changed from TARP SYNDROME to TARP syndrome, OMIM:311900; Tarp syndrome, MONDO:0010711
Fetal anomalies v1.523 RSPH4A Ivone Leong Classified gene: RSPH4A as Amber List (moderate evidence)
Fetal anomalies v1.523 RSPH4A Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber.

Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag).
Fetal anomalies v1.523 RSPH4A Ivone Leong Gene: rsph4a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.522 RBM10 Arina Puzriakova Classified gene: RBM10 as Amber List (moderate evidence)
Fetal anomalies v1.522 RBM10 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.522 RBM10 Arina Puzriakova Gene: rbm10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.521 RSPH4A Ivone Leong Tag for-review tag was added to gene: RSPH4A.
Fetal anomalies v1.521 RBM10 Arina Puzriakova Tag for-review tag was added to gene: RBM10.
Fetal anomalies v1.521 PTPN14 Arina Puzriakova Phenotypes for gene: PTPN14 were changed from CHOANAL ATRESIA AND LYMPHEDEMA to Choanal atresia and lymphedema, OMIM:613611; Lymphedema-posterior choanal atresia syndrome, MONDO:0013324
Fetal anomalies v1.520 PTPN14 Arina Puzriakova Classified gene: PTPN14 as Amber List (moderate evidence)
Fetal anomalies v1.520 PTPN14 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.520 PTPN14 Arina Puzriakova Gene: ptpn14 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.519 PTPN14 Arina Puzriakova Tag for-review tag was added to gene: PTPN14.
Fetal anomalies v1.519 PSAT1 Arina Puzriakova Phenotypes for gene: PSAT1 were changed from Neu-Laxova syndrome 2, 616038; NEU-LAXOVA SYNDROME; PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY to Neu-Laxova syndrome 2, OMIM:616038; Neu-Laxova syndrome 2, MONDO:0014466
Fetal anomalies v1.518 PRUNE1 Arina Puzriakova Phenotypes for gene: PRUNE1 were changed from PEHO Like condition to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, OMIM:617481; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490
Fetal anomalies v1.517 PRUNE1 Arina Puzriakova Classified gene: PRUNE1 as Amber List (moderate evidence)
Fetal anomalies v1.517 PRUNE1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.517 PRUNE1 Arina Puzriakova Gene: prune1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.516 PRUNE1 Arina Puzriakova Tag for-review tag was added to gene: PRUNE1.
Fetal anomalies v1.516 RPS7 Arina Puzriakova Phenotypes for gene: RPS7 were changed from Diamond-Blackfan anemia 8 to Diamond-Blackfan anemia 8, OMIM:612563; Diamond-Blackfan anemia 8, MONDO:0012939
Fetal anomalies v1.515 RPL10 Arina Puzriakova Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35 to Mental retardation, X-linked, syndromic, 35, OMIM:300998; Intellectual disability, X-linked, syndromic, 35, MONDO:0030908
Fetal anomalies v1.514 ROBO3 Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag); to: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.514 ROBO3 Arina Puzriakova Phenotypes for gene: ROBO3 were changed from to Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313; Gaze palsy, familial horizontal, with progressive scoliosis 1, MONDO:0020790
Fetal anomalies v1.513 RBBP8 Arina Puzriakova Phenotypes for gene: RBBP8 were changed from Seckel syndrome 2 to Seckel syndrome 2, OMIM:606744; Seckel syndrome 2, MONDO:0011715
Fetal anomalies v1.512 RAB33B Arina Puzriakova Phenotypes for gene: RAB33B were changed from Smith-McCort dysplasia 2 to Smith-McCort dysplasia 2, OMIM:615222; Smith-McCort dysplasia 2, MONDO:0014087
Fetal anomalies v1.511 PYGM Arina Puzriakova Phenotypes for gene: PYGM were changed from McArdle disease to McArdle disease, OMIM:232600; Glycogen storage disease V, MONDO:0009293
Fetal anomalies v1.510 PRKAG2 Arina Puzriakova Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, hypertrophic 6; Glycogen storage disease of heart, lethal congenital to Cardiomyopathy, hypertrophic 6, OMIM:600858; Hypertrophic cardiomyopathy 6, MONDO:0010946; Glycogen storage disease of heart, lethal congenital, OMIM:261740; Lethal congenital glycogen storage disease of heart, MONDO:0009867
Fetal anomalies v1.509 POP1 Arina Puzriakova Phenotypes for gene: POP1 were changed from Anauxetic dysplasia 2 to Anauxetic dysplasia 2, OMIM:617396; Anauxetic dysplasia 2, MONDO:0054561
Fetal anomalies v1.508 POLG2 Arina Puzriakova Phenotypes for gene: POLG2 were changed from Mitochondrial DNA depletion syndrome 16 (hepatic type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 to Mitochondrial DNA depletion syndrome 16 (hepatic type), OMIM:618528; Mitochondrial DNA depletion syndrome 16 (hepatic type), MONDO:0032799; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MONDO:0012415
Fetal anomalies v1.507 RRAS2 Arina Puzriakova Phenotypes for gene: RRAS2 were changed from Noonan syndrome 12 to Noonan syndrome 12, OMIM:618624; Noonan syndrome 12, MONDO:0032839
Fetal anomalies v1.506 RRAS2 Arina Puzriakova Classified gene: RRAS2 as Amber List (moderate evidence)
Fetal anomalies v1.506 RRAS2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.506 RRAS2 Arina Puzriakova Gene: rras2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.505 RRAS2 Arina Puzriakova Tag for-review tag was added to gene: RRAS2.
Fetal anomalies v1.505 RPS7 Arina Puzriakova Classified gene: RPS7 as Amber List (moderate evidence)
Fetal anomalies v1.505 RPS7 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.505 RPS7 Arina Puzriakova Gene: rps7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.504 RPS7 Arina Puzriakova Tag for-review tag was added to gene: RPS7.
Fetal anomalies v1.504 RPL10 Arina Puzriakova Classified gene: RPL10 as Amber List (moderate evidence)
Fetal anomalies v1.504 RPL10 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.504 RPL10 Arina Puzriakova Gene: rpl10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.503 RPL10 Arina Puzriakova Tag for-review tag was added to gene: RPL10.
Fetal anomalies v1.503 ROBO3 Arina Puzriakova Mode of inheritance for gene: ROBO3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.502 ROBO3 Arina Puzriakova Classified gene: ROBO3 as Amber List (moderate evidence)
Fetal anomalies v1.502 ROBO3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.502 ROBO3 Arina Puzriakova Gene: robo3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.501 ROBO3 Arina Puzriakova Tag for-review tag was added to gene: ROBO3.
Fetal anomalies v1.501 RBBP8 Arina Puzriakova Classified gene: RBBP8 as Amber List (moderate evidence)
Fetal anomalies v1.501 RBBP8 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.501 RBBP8 Arina Puzriakova Gene: rbbp8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.500 RBBP8 Arina Puzriakova Tag for-review tag was added to gene: RBBP8.
Fetal anomalies v1.500 RAB33B Arina Puzriakova Classified gene: RAB33B as Amber List (moderate evidence)
Fetal anomalies v1.500 RAB33B Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.500 RAB33B Arina Puzriakova Gene: rab33b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.499 RAB33B Arina Puzriakova Tag for-review tag was added to gene: RAB33B.
Fetal anomalies v1.499 PYGM Arina Puzriakova Classified gene: PYGM as Amber List (moderate evidence)
Fetal anomalies v1.499 PYGM Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.499 PYGM Arina Puzriakova Gene: pygm has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.498 PYGM Arina Puzriakova Tag for-review tag was added to gene: PYGM.
Fetal anomalies v1.498 PRKAG2 Arina Puzriakova Classified gene: PRKAG2 as Amber List (moderate evidence)
Fetal anomalies v1.498 PRKAG2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.498 PRKAG2 Arina Puzriakova Gene: prkag2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.497 PRKAG2 Arina Puzriakova Tag for-review tag was added to gene: PRKAG2.
Fetal anomalies v1.497 POP1 Arina Puzriakova Classified gene: POP1 as Amber List (moderate evidence)
Fetal anomalies v1.497 POP1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.497 POP1 Arina Puzriakova Gene: pop1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.496 POP1 Arina Puzriakova Tag for-review tag was added to gene: POP1.
Fetal anomalies v1.496 POLG2 Arina Puzriakova Classified gene: POLG2 as Amber List (moderate evidence)
Fetal anomalies v1.496 POLG2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.496 POLG2 Arina Puzriakova Gene: polg2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.495 POLG2 Arina Puzriakova Tag for-review tag was added to gene: POLG2.
Fetal anomalies v1.495 PNPLA1 Arina Puzriakova Phenotypes for gene: PNPLA1 were changed from CONGENITAL ICHTHYOSIS to Ichthyosis, congenital, autosomal recessive 10, OMIM:615024; Autosomal recessive congenital ichthyosis 10, MONDO:0014011
Fetal anomalies v1.494 POLR1A Arina Puzriakova Phenotypes for gene: POLR1A were changed from ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE to Acrofacial dysostosis, Cincinnati type, OMIM:616462; Acrofacial dysostosis Cincinnati type, MONDO:0014651
Fetal anomalies v1.493 POLR1A Arina Puzriakova Classified gene: POLR1A as Amber List (moderate evidence)
Fetal anomalies v1.493 POLR1A Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.493 POLR1A Arina Puzriakova Gene: polr1a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.492 POLR1A Arina Puzriakova Tag for-review tag was added to gene: POLR1A.
Fetal anomalies v1.492 PNPLA1 Arina Puzriakova Classified gene: PNPLA1 as Amber List (moderate evidence)
Fetal anomalies v1.492 PNPLA1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.492 PNPLA1 Arina Puzriakova Gene: pnpla1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.491 PNPLA1 Arina Puzriakova Tag for-review tag was added to gene: PNPLA1.
Fetal anomalies v1.491 PITX1 Arina Puzriakova Phenotypes for gene: PITX1 were changed from CONGENITAL CLUBFOOT; HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS to Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800; Clubfoot, MONDO:0007342; Liebenberg syndrome, OMIM:186550; Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520
Fetal anomalies v1.490 PITX1 Arina Puzriakova Classified gene: PITX1 as Amber List (moderate evidence)
Fetal anomalies v1.490 PITX1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.490 PITX1 Arina Puzriakova Gene: pitx1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.489 PITX1 Arina Puzriakova Tag for-review tag was added to gene: PITX1.
Fetal anomalies v1.489 PIGN Arina Puzriakova Phenotypes for gene: PIGN were changed from MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME to Multiple congenital anomalies-hypotonia-seizures syndrome 1, OMIM:614080; Multiple congenital anomalies-hypotonia-seizures syndrome 1, MONDO:0013563
Fetal anomalies v1.488 PIGN Arina Puzriakova Classified gene: PIGN as Amber List (moderate evidence)
Fetal anomalies v1.488 PIGN Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.488 PIGN Arina Puzriakova Gene: pign has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.487 PIGN Arina Puzriakova Tag for-review tag was added to gene: PIGN.
Fetal anomalies v1.487 PGM3 Arina Puzriakova Publications for gene: PGM3 were set to
Fetal anomalies v1.486 PGM3 Arina Puzriakova Phenotypes for gene: PGM3 were changed from IMMUNODEFICIENCY 23 to Immunodeficiency 23, OMIM:615816; PGM3-CDG, MONDO:0014353
Fetal anomalies v1.485 PGM3 Arina Puzriakova Classified gene: PGM3 as Amber List (moderate evidence)
Fetal anomalies v1.485 PGM3 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene has been upgraded from Red to Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.485 PGM3 Arina Puzriakova Gene: pgm3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.484 PGM3 Arina Puzriakova Tag for-review tag was added to gene: PGM3.
Fetal anomalies v1.484 P4HB Arina Puzriakova Phenotypes for gene: P4HB were changed from COLE-CARPENTER SYNDROME to Cole-Carpenter syndrome 1, OMIM:112240; Cole-Carpenter syndrome 1, MONDO:0007204
Fetal anomalies v1.483 OSGEP Arina Puzriakova Phenotypes for gene: OSGEP were changed from Nephrotic syndrome with primary microcephaly to Galloway-Mowat syndrome 3, OMIM:617729; Galloway-Mowat syndrome 3, MONDO:0033007
Fetal anomalies v1.482 P4HB Arina Puzriakova Classified gene: P4HB as Amber List (moderate evidence)
Fetal anomalies v1.482 P4HB Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.482 P4HB Arina Puzriakova Gene: p4hb has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.481 P4HB Arina Puzriakova Tag for-review tag was added to gene: P4HB.
Fetal anomalies v1.481 OSGEP Arina Puzriakova Classified gene: OSGEP as Amber List (moderate evidence)
Fetal anomalies v1.481 OSGEP Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.481 OSGEP Arina Puzriakova Gene: osgep has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.480 OSGEP Arina Puzriakova Tag for-review tag was added to gene: OSGEP.
Fetal anomalies v1.480 NEK8 Arina Puzriakova Phenotypes for gene: NEK8 were changed from RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; NEPHRONOPHTHISIS 9 to ?Nephronophthisis 9, OMIM:613824; Nephronophthisis 9, MONDO:0013444; Renal-hepatic-pancreatic dysplasia 2, OMIM:615415; Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174
Fetal anomalies v1.479 NEK8 Arina Puzriakova Publications for gene: NEK8 were set to
Fetal anomalies v1.478 NEK8 Arina Puzriakova Classified gene: NEK8 as Amber List (moderate evidence)
Fetal anomalies v1.478 NEK8 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.478 NEK8 Arina Puzriakova Gene: nek8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.477 NEK8 Arina Puzriakova Tag for-review tag was added to gene: NEK8.
Fetal anomalies v1.477 NEDD4L Arina Puzriakova Phenotypes for gene: NEDD4L were changed from Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly to Periventricular nodular heterotopia 7, OMIM:617201; Periventricular nodular heterotopia 7, MONDO:0014966
Fetal anomalies v1.476 NEDD4L Arina Puzriakova Classified gene: NEDD4L as Amber List (moderate evidence)
Fetal anomalies v1.476 NEDD4L Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.476 NEDD4L Arina Puzriakova Gene: nedd4l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.475 NEDD4L Arina Puzriakova Tag for-review tag was added to gene: NEDD4L.
Fetal anomalies v1.475 PLG Arina Puzriakova Phenotypes for gene: PLG were changed from Plasminogen deficiency, type I to Plasminogen deficiency, type I, OMIM:217090; Hypoplasminogenemia, MONDO:0009009
Fetal anomalies v1.474 PLAG1 Arina Puzriakova Phenotypes for gene: PLAG1 were changed from Silver-Russell syndrome 4 to Silver-Russell syndrome 4, OMIM:618907; Silver-russell syndrome 4, MONDO:0030118
Fetal anomalies v1.473 PIK3C2A Arina Puzriakova Phenotypes for gene: PIK3C2A were changed from Oculoskeletodental syndrome to Oculoskeletodental syndrome, OMIM:618440; Oculocerebrodental syndrome, MONDO:0034145
Fetal anomalies v1.472 PIH1D3 Arina Puzriakova Phenotypes for gene: PIH1D3 were changed from Ciliary dyskinesia, primary, 36, X-linked to Ciliary dyskinesia, primary, 36, X-linked, OMIM:300991; Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517
Fetal anomalies v1.471 PIBF1 Arina Puzriakova Phenotypes for gene: PIBF1 were changed from Joubert syndrome 33 to Joubert syndrome 33, OMIM:617767; Joubert syndrome 33, MONDO:0033311
Fetal anomalies v1.470 PLG Arina Puzriakova Classified gene: PLG as Amber List (moderate evidence)
Fetal anomalies v1.470 PLG Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.470 PLG Arina Puzriakova Gene: plg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.469 PLG Arina Puzriakova Tag for-review tag was added to gene: PLG.
Fetal anomalies v1.469 PLAG1 Arina Puzriakova Classified gene: PLAG1 as Amber List (moderate evidence)
Fetal anomalies v1.469 PLAG1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.469 PLAG1 Arina Puzriakova Gene: plag1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.468 PLAG1 Arina Puzriakova Tag for-review tag was added to gene: PLAG1.
Fetal anomalies v1.468 PIH1D3 Arina Puzriakova Classified gene: PIH1D3 as Amber List (moderate evidence)
Fetal anomalies v1.468 PIH1D3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.468 PIH1D3 Arina Puzriakova Gene: pih1d3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.467 PIK3C2A Arina Puzriakova Classified gene: PIK3C2A as Amber List (moderate evidence)
Fetal anomalies v1.467 PIK3C2A Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.467 PIK3C2A Arina Puzriakova Gene: pik3c2a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.466 PIK3C2A Arina Puzriakova Tag for-review tag was added to gene: PIK3C2A.
Fetal anomalies v1.466 PIH1D3 Arina Puzriakova Tag for-review tag was added to gene: PIH1D3.
Fetal anomalies v1.466 PIBF1 Arina Puzriakova Classified gene: PIBF1 as Amber List (moderate evidence)
Fetal anomalies v1.466 PIBF1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.466 PIBF1 Arina Puzriakova Gene: pibf1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.465 PIBF1 Arina Puzriakova Tag for-review tag was added to gene: PIBF1.
Fetal anomalies v1.465 PFKM Arina Puzriakova Phenotypes for gene: PFKM were changed from Glycogen storage disease VII to Glycogen storage disease VII, OMIM:232800; Glycogen storage disease VII, MONDO:0009295
Fetal anomalies v1.464 PFKM Arina Puzriakova Classified gene: PFKM as Amber List (moderate evidence)
Fetal anomalies v1.464 PFKM Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.464 PFKM Arina Puzriakova Gene: pfkm has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.463 PFKM Arina Puzriakova Tag for-review tag was added to gene: PFKM.
Fetal anomalies v1.463 PBX1 Arina Puzriakova Phenotypes for gene: PBX1 were changed from Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641; Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MONDO:0060549
Fetal anomalies v1.462 PBX1 Arina Puzriakova Classified gene: PBX1 as Amber List (moderate evidence)
Fetal anomalies v1.462 PBX1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.462 PBX1 Arina Puzriakova Gene: pbx1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.461 PBX1 Arina Puzriakova Tag for-review tag was added to gene: PBX1.
Fetal anomalies v1.461 PAX7 Arina Puzriakova Phenotypes for gene: PAX7 were changed from Myopathy, congenital, progressive, with scoliosis to Myopathy, congenital, progressive, with scoliosis, OMIM:618578; Myopathy, congenital, progressive, with scoliosis, MONDO:0032821
Fetal anomalies v1.460 PAX7 Arina Puzriakova Classified gene: PAX7 as Amber List (moderate evidence)
Fetal anomalies v1.460 PAX7 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.460 PAX7 Arina Puzriakova Gene: pax7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.459 PAX7 Arina Puzriakova Tag for-review tag was added to gene: PAX7.
Fetal anomalies v1.459 NXN Arina Puzriakova Phenotypes for gene: NXN were changed from Robinow syndrome, autosomal recessive 2 to Robinow syndrome, autosomal recessive 2, OMIM:618529; Robinow syndrome, autosomal recessive 2, MONDO:0032800
Fetal anomalies v1.458 NXN Arina Puzriakova Classified gene: NXN as Amber List (moderate evidence)
Fetal anomalies v1.458 NXN Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.458 NXN Arina Puzriakova Gene: nxn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.457 NXN Arina Puzriakova Tag for-review tag was added to gene: NXN.
Fetal anomalies v1.457 NECTIN1 Arina Puzriakova Phenotypes for gene: NECTIN1 were changed from Cleft lip/palate-ectodermal dysplasia syndrome; Orofacial cleft 7 to Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060; Orofacial cleft 7, OMIM:225060
Fetal anomalies v1.456 NIPAL4 Arina Puzriakova Phenotypes for gene: NIPAL4 were changed from Ichthyosis, congenital, autosomal recessive 6 to Ichthyosis, congenital, autosomal recessive 6, OMIM:612281; Autosomal recessive congenital ichthyosis 6, MONDO:0012847
Fetal anomalies v1.455 NIPAL4 Arina Puzriakova Classified gene: NIPAL4 as Amber List (moderate evidence)
Fetal anomalies v1.455 NIPAL4 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.455 NIPAL4 Arina Puzriakova Gene: nipal4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.454 NIPAL4 Arina Puzriakova Tag for-review tag was added to gene: NIPAL4.
Fetal anomalies v1.454 NECTIN1 Arina Puzriakova Classified gene: NECTIN1 as Amber List (moderate evidence)
Fetal anomalies v1.454 NECTIN1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.454 NECTIN1 Arina Puzriakova Gene: nectin1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.453 NECTIN1 Arina Puzriakova Tag for-review tag was added to gene: NECTIN1.
Fetal anomalies v1.453 NADSYN1 Arina Puzriakova Phenotypes for gene: NADSYN1 were changed from Vertebral, cardiac, renal, and limb defects syndrome 3 to Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845; Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077
Fetal anomalies v1.452 NADSYN1 Arina Puzriakova Classified gene: NADSYN1 as Amber List (moderate evidence)
Fetal anomalies v1.452 NADSYN1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.452 NADSYN1 Arina Puzriakova Gene: nadsyn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.451 NADSYN1 Arina Puzriakova Tag for-review tag was added to gene: NADSYN1.
Fetal anomalies v1.451 MYPN Arina Puzriakova Classified gene: MYPN as Amber List (moderate evidence)
Fetal anomalies v1.451 MYPN Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.451 MYPN Arina Puzriakova Gene: mypn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.450 MYPN Arina Puzriakova Tag for-review tag was added to gene: MYPN.
Fetal anomalies v1.450 MOGS Arina Puzriakova Phenotypes for gene: MOGS were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type IIb, OMIM:606056; MOGS-CDG, MONDO:0011629
Fetal anomalies v1.449 MOGS Arina Puzriakova Classified gene: MOGS as Amber List (moderate evidence)
Fetal anomalies v1.449 MOGS Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.449 MOGS Arina Puzriakova Gene: mogs has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.448 MOGS Arina Puzriakova Tag for-review tag was added to gene: MOGS.
Fetal anomalies v1.448 MEOX1 Arina Puzriakova Phenotypes for gene: MEOX1 were changed from KLIPPEL-FEIL ANOMALY to Klippel-Feil syndrome 2, OMIM:214300; Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958
Fetal anomalies v1.447 MEOX1 Arina Puzriakova Classified gene: MEOX1 as Amber List (moderate evidence)
Fetal anomalies v1.447 MEOX1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.447 MEOX1 Arina Puzriakova Gene: meox1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.446 MEOX1 Arina Puzriakova Tag for-review tag was added to gene: MEOX1.
Fetal anomalies v1.446 MAP3K7 Arina Puzriakova Phenotypes for gene: MAP3K7 were changed from Cardiospondylocarpofacial syndrome; FRONTOMETAPHYSEAL DYSPLASIA to Cardiospondylocarpofacial syndrome, OMIM:157800; Cardiospondylocarpofacial syndrome, MONDO:0008005; Frontometaphyseal dysplasia 2, OMIM:617137; Frontometaphyseal dysplasia 2, MONDO:0014935
Fetal anomalies v1.445 MAP3K7 Arina Puzriakova Classified gene: MAP3K7 as Amber List (moderate evidence)
Fetal anomalies v1.445 MAP3K7 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.445 MAP3K7 Arina Puzriakova Gene: map3k7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.444 MAP3K7 Arina Puzriakova Tag for-review tag was added to gene: MAP3K7.
Fetal anomalies v1.444 LONP1 Arina Puzriakova Phenotypes for gene: LONP1 were changed from CODAS SYNDROME to CODAS syndrome, OMIM:600373; CODAS syndrome, MONDO:0010879
Fetal anomalies v1.443 LONP1 Arina Puzriakova Classified gene: LONP1 as Amber List (moderate evidence)
Fetal anomalies v1.443 LONP1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.443 LONP1 Arina Puzriakova Gene: lonp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.442 LONP1 Arina Puzriakova Tag for-review tag was added to gene: LONP1.
Fetal anomalies v1.442 LAMB1 Arina Puzriakova Phenotypes for gene: LAMB1 were changed from COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES to Lissencephaly 5, OMIM:615191; Cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077
Fetal anomalies v1.441 LAMB1 Arina Puzriakova Classified gene: LAMB1 as Amber List (moderate evidence)
Fetal anomalies v1.441 LAMB1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.441 LAMB1 Arina Puzriakova Gene: lamb1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.440 LAMB1 Arina Puzriakova Tag for-review tag was added to gene: LAMB1.
Fetal anomalies v1.440 KLHL7 Arina Puzriakova Phenotypes for gene: KLHL7 were changed from Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa to PERCHING syndrome, OMIM:617055; PERCHING syndrome, MONDO:0014890
Fetal anomalies v1.439 KLHL7 Arina Puzriakova Classified gene: KLHL7 as Amber List (moderate evidence)
Fetal anomalies v1.439 KLHL7 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.439 KLHL7 Arina Puzriakova Gene: klhl7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.438 KLHL7 Arina Puzriakova Tag for-review tag was added to gene: KLHL7.
Fetal anomalies v1.438 KIF5C Arina Puzriakova Phenotypes for gene: KIF5C were changed from CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 to Cortical dysplasia, complex, with other brain malformations 2, OMIM:615282; Complex cortical dysplasia with other brain malformations 2, MONDO:0014116
Fetal anomalies v1.437 KIF5C Arina Puzriakova Classified gene: KIF5C as Amber List (moderate evidence)
Fetal anomalies v1.437 KIF5C Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.437 KIF5C Arina Puzriakova Gene: kif5c has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.436 KIF5C Arina Puzriakova Tag for-review tag was added to gene: KIF5C.
Fetal anomalies v1.436 USP9X Catherine Snow Classified gene: USP9X as Amber List (moderate evidence)
Fetal anomalies v1.436 USP9X Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.436 USP9X Catherine Snow Gene: usp9x has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.435 HESX1 Arina Puzriakova Phenotypes for gene: HESX1 were changed from HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY; SEPTOOPTIC DYSPLASIA to Septooptic dysplasia, OMIM:182230; Septooptic dysplasia, MONDO:0008428
Fetal anomalies v1.434 USP9X Catherine Snow Tag for-review tag was added to gene: USP9X.
Fetal anomalies v1.434 VAMP1 Catherine Snow Classified gene: VAMP1 as Amber List (moderate evidence)
Fetal anomalies v1.434 VAMP1 Catherine Snow Gene: vamp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.434 HIST1H1E Arina Puzriakova Phenotypes for gene: HIST1H1E were changed from Childhood overgrowth to Rahman syndrome, OMIM:617537; Rahman syndrome, MONDO:0044323
Fetal anomalies v1.433 KIF2A Arina Puzriakova Phenotypes for gene: KIF2A were changed from MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY. to Cortical dysplasia, complex, with other brain malformations 3, OMIM:615411; Complex cortical dysplasia with other brain malformations 3, MONDO:0014170
Fetal anomalies v1.432 KIF2A Arina Puzriakova Classified gene: KIF2A as Amber List (moderate evidence)
Fetal anomalies v1.432 KIF2A Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.432 KIF2A Arina Puzriakova Gene: kif2a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.431 KIF2A Arina Puzriakova Tag for-review tag was added to gene: KIF2A.
Fetal anomalies v1.431 ITGA8 Arina Puzriakova Phenotypes for gene: ITGA8 were changed from bilateral renal agenesis; anhydramnios; RENAL HYPODYSPLASIA/APLASIA 1; Renal hypodysplasia/aplasia 1, 191830 to Renal hypodysplasia/aplasia 1, OMIM:191830; Renal hypodysplasia/aplasia 1, MONDO:0024519
Fetal anomalies v1.430 VAMP1 Catherine Snow Tag for-review tag was added to gene: VAMP1.
Fetal anomalies v1.430 VAMP1 Catherine Snow Publications for gene: VAMP1 were set to
Fetal anomalies v1.429 VAMP1 Catherine Snow Classified gene: VAMP1 as Amber List (moderate evidence)
Fetal anomalies v1.429 VAMP1 Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.429 VAMP1 Catherine Snow Gene: vamp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.428 VEGFC Catherine Snow changed review comment from: Comment on list classification: Comment on list classification: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag); to: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.428 ITGA8 Arina Puzriakova Classified gene: ITGA8 as Amber List (moderate evidence)
Fetal anomalies v1.428 ITGA8 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)

ITGA8 is also Green on the 'Unexplained paediatric onset end-stage renal disease v.1.2' GMS panel
Fetal anomalies v1.428 ITGA8 Arina Puzriakova Gene: itga8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.427 ITGA8 Arina Puzriakova Tag for-review tag was added to gene: ITGA8.
Fetal anomalies v1.427 HIST1H1E Arina Puzriakova Classified gene: HIST1H1E as Amber List (moderate evidence)
Fetal anomalies v1.427 HIST1H1E Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.427 HIST1H1E Arina Puzriakova Gene: hist1h1e has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.426 HIST1H1E Arina Puzriakova Tag for-review tag was added to gene: HIST1H1E.
Fetal anomalies v1.426 HESX1 Arina Puzriakova Classified gene: HESX1 as Amber List (moderate evidence)
Fetal anomalies v1.426 HESX1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.426 HESX1 Arina Puzriakova Gene: hesx1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.425 HESX1 Arina Puzriakova Tag for-review tag was added to gene: HESX1.
Fetal anomalies v1.425 GZF1 Arina Puzriakova Phenotypes for gene: GZF1 were changed from LARSEN SYNDROME to Joint laxity, short stature, and myopia, OMIM:617662; Joint laxity, short stature, and myopia, MONDO:0060556
Fetal anomalies v1.424 GZF1 Arina Puzriakova Classified gene: GZF1 as Amber List (moderate evidence)
Fetal anomalies v1.424 GZF1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.424 GZF1 Arina Puzriakova Gene: gzf1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.423 GZF1 Arina Puzriakova Tag for-review tag was added to gene: GZF1.
Fetal anomalies v1.423 GPC6 Arina Puzriakova Phenotypes for gene: GPC6 were changed from OMODYSPLASIA TYPE 1 (OMOD1) [ to Omodysplasia 1, OMIM:258315; Autosomal recessive omodysplasia, MONDO:0009779
Fetal anomalies v1.422 GMNN Arina Puzriakova Phenotypes for gene: GMNN were changed from Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome to Meier-Gorlin syndrome 6, OMIM:616835; Meier-Gorlin syndrome 6, MONDO:0014794
Fetal anomalies v1.421 GPC6 Arina Puzriakova Classified gene: GPC6 as Amber List (moderate evidence)
Fetal anomalies v1.421 GPC6 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.421 GPC6 Arina Puzriakova Gene: gpc6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.420 GPC6 Arina Puzriakova Tag for-review tag was added to gene: GPC6.
Fetal anomalies v1.420 GMNN Arina Puzriakova Classified gene: GMNN as Amber List (moderate evidence)
Fetal anomalies v1.420 GMNN Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.420 GMNN Arina Puzriakova Gene: gmnn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.419 GMNN Arina Puzriakova Tag for-review tag was added to gene: GMNN.
Fetal anomalies v1.419 HADHB Arina Puzriakova Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency to Trifunctional protein deficiency, OMIM:609015; Mitochondrial trifunctional protein deficiency, MONDO:0012172
Fetal anomalies v1.418 GSC Arina Puzriakova Phenotypes for gene: GSC were changed from Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471; Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227
Fetal anomalies v1.417 HADHB Arina Puzriakova Classified gene: HADHB as Amber List (moderate evidence)
Fetal anomalies v1.417 HADHB Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.417 HADHB Arina Puzriakova Gene: hadhb has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.416 HADHB Arina Puzriakova Tag for-review tag was added to gene: HADHB.
Fetal anomalies v1.416 GSC Arina Puzriakova Classified gene: GSC as Amber List (moderate evidence)
Fetal anomalies v1.416 GSC Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.416 GSC Arina Puzriakova Gene: gsc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.415 GSC Arina Puzriakova Tag for-review tag was added to gene: GSC.
Fetal anomalies v1.415 GLI1 Arina Puzriakova Phenotypes for gene: GLI1 were changed from Polydactyly, postaxial, type A8 618123; Polydactyly, preaxial I 174400 to Polydactyly, postaxial, type A8, OMIM:618123; Polydactyly, postaxial, type A8, MONDO:0029130; Polydactyly, preaxial I, OMIM:174400; Preaxial polydactyly of fingers, MONDO:0017425
Fetal anomalies v1.414 GFPT1 Arina Puzriakova Phenotypes for gene: GFPT1 were changed from Myasthenia, congenital, 12, with tubular aggregates to Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542; Congenital myasthenic syndrome 12, MONDO:0012518
Fetal anomalies v1.413 GATA3 Arina Puzriakova Phenotypes for gene: GATA3 were changed from Hypoparathyroidism, sensorineural deafness, and renal dysplasia to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255; Hypoparathyroidism-deafness-renal disease syndrome, MONDO:0007797
Fetal anomalies v1.412 GANAB Arina Puzriakova Phenotypes for gene: GANAB were changed from Polycystic kidney disease 3 to Polycystic kidney disease 3, OMIM:600666; Polycystic kidney disease 3 with or without polycystic liver disease, MONDO:0010916
Fetal anomalies v1.411 FZD2 Arina Puzriakova Phenotypes for gene: FZD2 were changed from Omodysplasia 2 to Omodysplasia 2, OMIM:164745; Autosomal dominant omodysplasia, MONDO:0008123
Fetal anomalies v1.410 FUT8 Arina Puzriakova Phenotypes for gene: FUT8 were changed from Congenital disorder of glycosylation with defective fucosylation 1 to Congenital disorder of glycosylation with defective fucosylation 1, OMIM:618005; Congenital disorder of glycosylation with defective fucosylation 1, MONDO:0020775
Fetal anomalies v1.409 FKBP10 Arina Puzriakova Phenotypes for gene: FKBP10 were changed from Bruck syndrome 1; Osteogenesis imperfecta, type XI to Bruck syndrome 1, OMIM:259450; Bruck syndrome 1, MONDO:0009806; Osteogenesis imperfecta, type XI, OMIM:610968; Osteogenesis imperfecta type 11, MONDO:0012592
Fetal anomalies v1.408 GLI1 Arina Puzriakova Classified gene: GLI1 as Amber List (moderate evidence)
Fetal anomalies v1.408 GLI1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.408 GLI1 Arina Puzriakova Gene: gli1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.407 GLI1 Arina Puzriakova Tag for-review tag was added to gene: GLI1.
Fetal anomalies v1.407 GFPT1 Arina Puzriakova Classified gene: GFPT1 as Amber List (moderate evidence)
Fetal anomalies v1.407 GFPT1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.407 GFPT1 Arina Puzriakova Gene: gfpt1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.406 GFPT1 Arina Puzriakova Tag for-review tag was added to gene: GFPT1.
Fetal anomalies v1.406 GATA3 Arina Puzriakova Classified gene: GATA3 as Amber List (moderate evidence)
Fetal anomalies v1.406 GATA3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.406 GATA3 Arina Puzriakova Gene: gata3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.405 GATA3 Arina Puzriakova Tag for-review tag was added to gene: GATA3.
Fetal anomalies v1.405 GANAB Arina Puzriakova Classified gene: GANAB as Amber List (moderate evidence)
Fetal anomalies v1.405 GANAB Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.405 GANAB Arina Puzriakova Gene: ganab has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.404 GANAB Arina Puzriakova Tag for-review tag was added to gene: GANAB.
Fetal anomalies v1.404 FZD2 Arina Puzriakova Classified gene: FZD2 as Amber List (moderate evidence)
Fetal anomalies v1.404 FZD2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.404 FZD2 Arina Puzriakova Gene: fzd2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.403 FZD2 Arina Puzriakova Tag for-review tag was added to gene: FZD2.
Fetal anomalies v1.403 FUT8 Arina Puzriakova Classified gene: FUT8 as Amber List (moderate evidence)
Fetal anomalies v1.403 FUT8 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.403 FUT8 Arina Puzriakova Gene: fut8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.402 FUT8 Arina Puzriakova Tag for-review tag was added to gene: FUT8.
Fetal anomalies v1.402 FKBP10 Arina Puzriakova Classified gene: FKBP10 as Amber List (moderate evidence)
Fetal anomalies v1.402 FKBP10 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.402 FKBP10 Arina Puzriakova Gene: fkbp10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.401 FKBP10 Arina Puzriakova Tag for-review tag was added to gene: FKBP10.
Fetal anomalies v1.401 FAM46A Arina Puzriakova Phenotypes for gene: FAM46A were changed from Osteogenesis imperfecta, type XVIII to Osteogenesis imperfecta, type XVIII, OMIM:617952; Osteogenesis imperfecta, type 18, MONDO:0044329
Fetal anomalies v1.400 FAM46A Arina Puzriakova Classified gene: FAM46A as Amber List (moderate evidence)
Fetal anomalies v1.400 FAM46A Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.400 FAM46A Arina Puzriakova Gene: fam46a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.399 FAM46A Arina Puzriakova Tag for-review tag was added to gene: FAM46A.
Fetal anomalies v1.399 EMX2 Arina Puzriakova Classified gene: EMX2 as Amber List (moderate evidence)
Fetal anomalies v1.399 EMX2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.399 EMX2 Arina Puzriakova Gene: emx2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.398 EMX2 Arina Puzriakova Tag for-review tag was added to gene: EMX2.
Fetal anomalies v1.398 EML1 Arina Puzriakova Classified gene: EML1 as Amber List (moderate evidence)
Fetal anomalies v1.398 EML1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.398 EML1 Arina Puzriakova Gene: eml1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.397 EML1 Arina Puzriakova Tag for-review tag was added to gene: EML1.
Fetal anomalies v1.397 DZIP1L Arina Puzriakova Classified gene: DZIP1L as Amber List (moderate evidence)
Fetal anomalies v1.397 DZIP1L Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.397 DZIP1L Arina Puzriakova Gene: dzip1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.396 DZIP1L Arina Puzriakova Tag for-review tag was added to gene: DZIP1L.
Fetal anomalies v1.396 GALNT2 Sarah Leigh Classified gene: GALNT2 as Amber List (moderate evidence)
Fetal anomalies v1.396 GALNT2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Fetal anomalies v1.396 GALNT2 Sarah Leigh Gene: galnt2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.395 GALNT2 Sarah Leigh Phenotypes for gene: GALNT2 were changed from Congenital disorder of glycosylation, type IIt to Congenital disorder of glycosylation, type IIt OMIM:618885
Fetal anomalies v1.394 GALNT2 Sarah Leigh Publications for gene: GALNT2 were set to
Fetal anomalies v1.393 GALNT2 Sarah Leigh reviewed gene: GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.393 GALNT2 Sarah Leigh Tag for-review tag was added to gene: GALNT2.
Fetal anomalies v1.393 VEGFC Catherine Snow Classified gene: VEGFC as Amber List (moderate evidence)
Fetal anomalies v1.393 VEGFC Catherine Snow Added comment: Comment on list classification: Comment on list classification: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.393 VEGFC Catherine Snow Gene: vegfc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.392 VEGFC Catherine Snow Tag for-review tag was added to gene: VEGFC.
Fetal anomalies v1.392 DYNC2LI1 Arina Puzriakova Classified gene: DYNC2LI1 as Amber List (moderate evidence)
Fetal anomalies v1.392 DYNC2LI1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.392 DYNC2LI1 Arina Puzriakova Gene: dync2li1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.391 DYNC2LI1 Arina Puzriakova Tag for-review tag was added to gene: DYNC2LI1.
Fetal anomalies v1.391 VRK1 Catherine Snow Classified gene: VRK1 as Amber List (moderate evidence)
Fetal anomalies v1.391 VRK1 Catherine Snow Added comment: Comment on list classification: Comment on list classification: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.391 VRK1 Catherine Snow Gene: vrk1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.390 VRK1 Catherine Snow Tag for-review tag was added to gene: VRK1.
Fetal anomalies v1.390 WDR73 Catherine Snow Tag for-review tag was added to gene: WDR73.
Fetal anomalies v1.390 WDR73 Catherine Snow Classified gene: WDR73 as Amber List (moderate evidence)
Fetal anomalies v1.390 WDR73 Catherine Snow Added comment: Comment on list classification: Comment on list classification: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.390 WDR73 Catherine Snow Gene: wdr73 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.389 FIG4 Arina Puzriakova Phenotypes for gene: FIG4 were changed from CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME; CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J to Yunis-Varon syndrome, OMIM:216340; Yunis-Varon syndrome, MONDO:0008995; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J, MONDO:0012640; ?Polymicrogyria, bilateral temporooccipital, OMIM:612691; Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986
Fetal anomalies v1.388 XYLT2 Catherine Snow Classified gene: XYLT2 as Amber List (moderate evidence)
Fetal anomalies v1.388 XYLT2 Catherine Snow Added comment: Comment on list classification: Comment on list classification: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.388 XYLT2 Catherine Snow Gene: xylt2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.387 XYLT2 Catherine Snow Tag for-review tag was added to gene: XYLT2.
Fetal anomalies v1.387 FANCL Arina Puzriakova Phenotypes for gene: FANCL were changed from FANCL-RELATED FANCONI ANEMIA; FANCONI ANEMIA to Fanconi anemia, complementation group L, OMIM:614083; Fanconi anemia complementation group L, MONDO:0013566
Fetal anomalies v1.386 EIF2S3 Arina Puzriakova Phenotypes for gene: EIF2S3 were changed from Syndromic ID with severe microcephaly to MEHMO syndrome, OMIM:300148; MEHMO syndrome, MONDO:0010258
Fetal anomalies v1.385 EED Arina Puzriakova Phenotypes for gene: EED were changed from Weaver-like overgrowth syndrome to Cohen-Gibson syndrome, OMIM:617561; Cohen-Gibson syndrome, MONDO:0060510
Fetal anomalies v1.384 FIG4 Arina Puzriakova Classified gene: FIG4 as Amber List (moderate evidence)
Fetal anomalies v1.384 FIG4 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.384 FIG4 Arina Puzriakova Gene: fig4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.383 FIG4 Arina Puzriakova Tag for-review tag was added to gene: FIG4.
Fetal anomalies v1.383 FANCL Arina Puzriakova Classified gene: FANCL as Amber List (moderate evidence)
Fetal anomalies v1.383 FANCL Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.383 FANCL Arina Puzriakova Gene: fancl has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.382 FANCL Arina Puzriakova Tag for-review tag was added to gene: FANCL.
Fetal anomalies v1.382 EIF2S3 Arina Puzriakova Classified gene: EIF2S3 as Amber List (moderate evidence)
Fetal anomalies v1.382 EIF2S3 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.382 EIF2S3 Arina Puzriakova Gene: eif2s3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.381 EIF2S3 Arina Puzriakova Tag for-review tag was added to gene: EIF2S3.
Fetal anomalies v1.381 EED Arina Puzriakova Classified gene: EED as Amber List (moderate evidence)
Fetal anomalies v1.381 EED Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.381 EED Arina Puzriakova Gene: eed has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.380 EED Arina Puzriakova Tag for-review tag was added to gene: EED.
Fetal anomalies v1.380 DPM3 Arina Puzriakova Phenotypes for gene: DPM3 were changed from CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O to ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
Fetal anomalies v1.379 DPM3 Arina Puzriakova Classified gene: DPM3 as Amber List (moderate evidence)
Fetal anomalies v1.379 DPM3 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.379 DPM3 Arina Puzriakova Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.378 DPM3 Arina Puzriakova Tag for-review tag was added to gene: DPM3.
Fetal anomalies v1.378 DDX59 Arina Puzriakova Phenotypes for gene: DDX59 were changed from OROFACIODIGITAL SYNDROME to Orofaciodigital syndrome V, OMIM:174300; Orofaciodigital syndrome V, MONDO:0008267
Fetal anomalies v1.377 DENND5A Arina Puzriakova Phenotypes for gene: DENND5A were changed from EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 49, OMIM:617281; Developmental and epileptic encephalopathy, 49, MONDO:0015002
Fetal anomalies v1.376 DNAAF5 Arina Puzriakova Phenotypes for gene: DNAAF5 were changed from CILIARY DYSKINESIA, PRIMARY, 18 to Ciliary dyskinesia, primary, 18, OMIM:614874; Primary ciliary dyskinesia 18, MONDO:0013940
Fetal anomalies v1.375 DNAAF5 Arina Puzriakova Classified gene: DNAAF5 as Amber List (moderate evidence)
Fetal anomalies v1.375 DNAAF5 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.375 DNAAF5 Arina Puzriakova Gene: dnaaf5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.374 DNAAF5 Arina Puzriakova Tag for-review tag was added to gene: DNAAF5.
Fetal anomalies v1.374 DENND5A Arina Puzriakova Classified gene: DENND5A as Amber List (moderate evidence)
Fetal anomalies v1.374 DENND5A Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.374 DENND5A Arina Puzriakova Gene: dennd5a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.373 DENND5A Arina Puzriakova Tag for-review tag was added to gene: DENND5A.
Fetal anomalies v1.373 DDX59 Arina Puzriakova Classified gene: DDX59 as Amber List (moderate evidence)
Fetal anomalies v1.373 DDX59 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.373 DDX59 Arina Puzriakova Gene: ddx59 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.372 DDX59 Arina Puzriakova Tag for-review tag was added to gene: DDX59.
Fetal anomalies v1.372 DPM2 Arina Puzriakova Classified gene: DPM2 as Amber List (moderate evidence)
Fetal anomalies v1.372 DPM2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.372 DPM2 Arina Puzriakova Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.371 DPM2 Arina Puzriakova Tag for-review tag was added to gene: DPM2.
Fetal anomalies v1.371 DONSON Arina Puzriakova Classified gene: DONSON as Amber List (moderate evidence)
Fetal anomalies v1.371 DONSON Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.371 DONSON Arina Puzriakova Gene: donson has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.370 DONSON Arina Puzriakova Tag for-review tag was added to gene: DONSON.
Fetal anomalies v1.370 ZMYND10 Catherine Snow Classified gene: ZMYND10 as Amber List (moderate evidence)
Fetal anomalies v1.370 ZMYND10 Catherine Snow Added comment: Comment on list classification: Comment on list classification: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.370 ZMYND10 Catherine Snow Gene: zmynd10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.369 ZMYND10 Catherine Snow Tag for-review tag was added to gene: ZMYND10.
Fetal anomalies v1.369 DNM2 Arina Puzriakova Classified gene: DNM2 as Amber List (moderate evidence)
Fetal anomalies v1.369 DNM2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.369 DNM2 Arina Puzriakova Gene: dnm2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.368 DNM2 Arina Puzriakova Tag for-review tag was added to gene: DNM2.
Fetal anomalies v1.368 DNM1L Arina Puzriakova Classified gene: DNM1L as Amber List (moderate evidence)
Fetal anomalies v1.368 DNM1L Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.368 DNM1L Arina Puzriakova Gene: dnm1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.367 DNM1L Arina Puzriakova Tag for-review tag was added to gene: DNM1L.
Fetal anomalies v1.367 DNAL1 Arina Puzriakova Classified gene: DNAL1 as Amber List (moderate evidence)
Fetal anomalies v1.367 DNAL1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.367 DNAL1 Arina Puzriakova Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.366 DNAL1 Arina Puzriakova Tag for-review tag was added to gene: DNAL1.
Fetal anomalies v1.366 DNAJB11 Arina Puzriakova Classified gene: DNAJB11 as Amber List (moderate evidence)
Fetal anomalies v1.366 DNAJB11 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.366 DNAJB11 Arina Puzriakova Gene: dnajb11 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.365 DNAJB11 Arina Puzriakova Tag for-review tag was added to gene: DNAJB11.
Fetal anomalies v1.365 DNAI2 Arina Puzriakova Classified gene: DNAI2 as Amber List (moderate evidence)
Fetal anomalies v1.365 DNAI2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.365 DNAI2 Arina Puzriakova Gene: dnai2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.364 DNAI2 Arina Puzriakova Tag for-review tag was added to gene: DNAI2.
Fetal anomalies v1.364 DNAAF2 Arina Puzriakova Classified gene: DNAAF2 as Amber List (moderate evidence)
Fetal anomalies v1.364 DNAAF2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.364 DNAAF2 Arina Puzriakova Gene: dnaaf2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.363 DNAAF2 Arina Puzriakova Tag for-review tag was added to gene: DNAAF2.
Fetal anomalies v1.363 DLX5 Arina Puzriakova Classified gene: DLX5 as Amber List (moderate evidence)
Fetal anomalies v1.363 DLX5 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.363 DLX5 Arina Puzriakova Gene: dlx5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.362 DLX5 Arina Puzriakova Tag for-review tag was added to gene: DLX5.
Fetal anomalies v1.362 DISP1 Arina Puzriakova Classified gene: DISP1 as Amber List (moderate evidence)
Fetal anomalies v1.362 DISP1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.362 DISP1 Arina Puzriakova Gene: disp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.361 DISP1 Arina Puzriakova Tag for-review tag was added to gene: DISP1.
Fetal anomalies v1.361 DIAPH1 Arina Puzriakova Classified gene: DIAPH1 as Amber List (moderate evidence)
Fetal anomalies v1.361 DIAPH1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.361 DIAPH1 Arina Puzriakova Gene: diaph1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.360 DIAPH1 Arina Puzriakova Tag for-review tag was added to gene: DIAPH1.
Fetal anomalies v1.360 CYP4F22 Arina Puzriakova Classified gene: CYP4F22 as Amber List (moderate evidence)
Fetal anomalies v1.360 CYP4F22 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.360 CYP4F22 Arina Puzriakova Gene: cyp4f22 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.359 CYP4F22 Arina Puzriakova Tag for-review tag was added to gene: CYP4F22.
Fetal anomalies v1.359 CYP26B1 Arina Puzriakova Classified gene: CYP26B1 as Amber List (moderate evidence)
Fetal anomalies v1.359 CYP26B1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.359 CYP26B1 Arina Puzriakova Gene: cyp26b1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.358 CYP26B1 Arina Puzriakova Tag for-review tag was added to gene: CYP26B1.
Fetal anomalies v1.358 CTU2 Arina Puzriakova Classified gene: CTU2 as Amber List (moderate evidence)
Fetal anomalies v1.358 CTU2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.358 CTU2 Arina Puzriakova Gene: ctu2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.357 CTU2 Arina Puzriakova Tag for-review tag was added to gene: CTU2.
Fetal anomalies v1.357 CRIPT Arina Puzriakova Classified gene: CRIPT as Amber List (moderate evidence)
Fetal anomalies v1.357 CRIPT Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.357 CRIPT Arina Puzriakova Gene: cript has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.356 CRIPT Arina Puzriakova Tag for-review tag was added to gene: CRIPT.
Fetal anomalies v1.356 ZSWIM6 Catherine Snow Tag for-review tag was added to gene: ZSWIM6.
Fetal anomalies v1.356 COLEC10 Arina Puzriakova Phenotypes for gene: COLEC10 were changed from 3MC to 3MC syndrome 3, OMIM:248340; 3MC syndrome 3, MONDO:0009554
Fetal anomalies v1.355 COL13A1 Arina Puzriakova Phenotypes for gene: COL13A1 were changed from Congenital Myasthenic Syndrome Type 19 to Myasthenic syndrome, congenital, 19, OMIM:616720; Congenital myasthenic syndrome 19, MONDO:0014745
Fetal anomalies v1.355 ZSWIM6 Catherine Snow Classified gene: ZSWIM6 as Amber List (moderate evidence)
Fetal anomalies v1.355 ZSWIM6 Catherine Snow Added comment: Comment on list classification: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.355 ZSWIM6 Catherine Snow Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.354 COLEC10 Arina Puzriakova Classified gene: COLEC10 as Amber List (moderate evidence)
Fetal anomalies v1.354 COLEC10 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.354 COLEC10 Arina Puzriakova Gene: colec10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.353 COLEC10 Arina Puzriakova Tag for-review tag was added to gene: COLEC10.
Fetal anomalies v1.353 COL13A1 Arina Puzriakova Classified gene: COL13A1 as Amber List (moderate evidence)
Fetal anomalies v1.353 COL13A1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.353 COL13A1 Arina Puzriakova Gene: col13a1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.352 COL13A1 Arina Puzriakova Tag for-review tag was added to gene: COL13A1.
Fetal anomalies v1.352 COG5 Arina Puzriakova Phenotypes for gene: COG5 were changed from COG5-CDG to Congenital disorder of glycosylation, type III, OMIM:613612; COG5-CDG, MONDO:0013325
Fetal anomalies v1.351 CLP1 Arina Puzriakova Phenotypes for gene: CLP1 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 10 to Pontocerebellar hypoplasia, type 10, OMIM:615803; Pontocerebellar hypoplasia type 10, MONDO:0014349
Fetal anomalies v1.350 CIT Arina Puzriakova Phenotypes for gene: CIT were changed from PRIMARY MICROCEPHALY to Microcephaly 17, primary, autosomal recessive, OMIM:617090; Microcephaly 17, primary, autosomal recessive, MONDO:0014908
Fetal anomalies v1.349 COG5 Arina Puzriakova Classified gene: COG5 as Amber List (moderate evidence)
Fetal anomalies v1.349 COG5 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.349 COG5 Arina Puzriakova Gene: cog5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.348 COG5 Arina Puzriakova Tag for-review tag was added to gene: COG5.
Fetal anomalies v1.348 CLP1 Arina Puzriakova Classified gene: CLP1 as Amber List (moderate evidence)
Fetal anomalies v1.348 CLP1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.348 CLP1 Arina Puzriakova Gene: clp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.347 CLP1 Arina Puzriakova Tag for-review tag was added to gene: CLP1.
Fetal anomalies v1.347 CIT Arina Puzriakova Classified gene: CIT as Amber List (moderate evidence)
Fetal anomalies v1.347 CIT Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.347 CIT Arina Puzriakova Gene: cit has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.346 CIT Arina Puzriakova Tag for-review tag was added to gene: CIT.
Fetal anomalies v1.346 CHMP1A Arina Puzriakova Phenotypes for gene: CHMP1A were changed from PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY to Pontocerebellar hypoplasia, type 8, OMIM:614961; Pontocerebellar hypoplasia type 8, MONDO:0013990
Fetal anomalies v1.345 CFL2 Arina Puzriakova Phenotypes for gene: CFL2 were changed from NEMALINE MYOPATHY 7 to Nemaline myopathy 7, autosomal recessive, OMIM:610687; Nemaline myopathy 7, MONDO:0012538
Fetal anomalies v1.344 CHMP1A Arina Puzriakova Classified gene: CHMP1A as Amber List (moderate evidence)
Fetal anomalies v1.344 CHMP1A Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.344 CHMP1A Arina Puzriakova Gene: chmp1a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.343 CHMP1A Arina Puzriakova Tag for-review tag was added to gene: CHMP1A.
Fetal anomalies v1.343 CFL2 Arina Puzriakova Classified gene: CFL2 as Amber List (moderate evidence)
Fetal anomalies v1.343 CFL2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.343 CFL2 Arina Puzriakova Gene: cfl2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.342 CFL2 Arina Puzriakova Tag for-review tag was added to gene: CFL2.
Fetal anomalies v1.342 CEP63 Arina Puzriakova Phenotypes for gene: CEP63 were changed from SECKEL SYNDROME 6 to ?Seckel syndrome 6, OMIM:614728; Seckel syndrome 6, MONDO:0013871
Fetal anomalies v1.341 CEP63 Arina Puzriakova Classified gene: CEP63 as Amber List (moderate evidence)
Fetal anomalies v1.341 CEP63 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.341 CEP63 Arina Puzriakova Gene: cep63 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.340 CEP63 Arina Puzriakova Tag for-review tag was added to gene: CEP63.
Fetal anomalies v1.340 CEP135 Arina Puzriakova Phenotypes for gene: CEP135 were changed from PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION to Microcephaly 8, primary, autosomal recessive, OMIM:614673; Microcephaly 8, primary, autosomal recessive, MONDO:0013849
Fetal anomalies v1.339 CEP135 Arina Puzriakova Classified gene: CEP135 as Amber List (moderate evidence)
Fetal anomalies v1.339 CEP135 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.339 CEP135 Arina Puzriakova Gene: cep135 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.338 CEP135 Arina Puzriakova Tag for-review tag was added to gene: CEP135.
Fetal anomalies v1.338 CDK5RAP2 Arina Puzriakova Phenotypes for gene: CDK5RAP2 were changed from PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY to Microcephaly 3, primary, autosomal recessive, OMIM:604804; Microcephaly 3, primary, autosomal recessive, MONDO:0011488
Fetal anomalies v1.337 CCDC88C Arina Puzriakova Phenotypes for gene: CCDC88C were changed from HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE to Hydrocephalus, congenital, 1, OMIM:236600; Hydrocephalus, nonsyndromic, autosomal recessive 1, MONDO:0009360
Fetal anomalies v1.336 CCDC8 Arina Puzriakova Phenotypes for gene: CCDC8 were changed from THREE M SYNDROME 3 to 3-M syndrome 3, OMIM:614205; 3M syndrome 3, MONDO:0013627
Fetal anomalies v1.335 CDK5RAP2 Arina Puzriakova Classified gene: CDK5RAP2 as Amber List (moderate evidence)
Fetal anomalies v1.335 CDK5RAP2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.335 CDK5RAP2 Arina Puzriakova Gene: cdk5rap2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.334 CDK5RAP2 Arina Puzriakova Tag for-review tag was added to gene: CDK5RAP2.
Fetal anomalies v1.334 CCDC88C Arina Puzriakova Classified gene: CCDC88C as Amber List (moderate evidence)
Fetal anomalies v1.334 CCDC88C Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.334 CCDC88C Arina Puzriakova Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.333 CCDC88C Arina Puzriakova Tag for-review tag was added to gene: CCDC88C.
Fetal anomalies v1.333 CCDC8 Arina Puzriakova Classified gene: CCDC8 as Amber List (moderate evidence)
Fetal anomalies v1.333 CCDC8 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.333 CCDC8 Arina Puzriakova Gene: ccdc8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.332 CCDC8 Arina Puzriakova Tag for-review tag was added to gene: CCDC8.
Fetal anomalies v1.332 CCDC151 Arina Puzriakova Phenotypes for gene: CCDC151 were changed from PRIMARY CILLARY DYSKINEASIA to Ciliary dyskinesia, primary, 30, OMIM:616037; Primary ciliary dyskinesia 30, MONDO:0014465
Fetal anomalies v1.331 CCDC151 Arina Puzriakova Classified gene: CCDC151 as Amber List (moderate evidence)
Fetal anomalies v1.331 CCDC151 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.331 CCDC151 Arina Puzriakova Gene: ccdc151 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.330 CCDC151 Arina Puzriakova Tag for-review tag was added to gene: CCDC151.
Fetal anomalies v1.330 C2CD3 Arina Puzriakova Phenotypes for gene: C2CD3 were changed from OROFACIODIGITAL SYNDROME XIV to Orofaciodigital syndrome XIV, OMIM:615948; Orofaciodigital syndrome type 14, MONDO:0014413
Fetal anomalies v1.329 C2CD3 Arina Puzriakova Classified gene: C2CD3 as Amber List (moderate evidence)
Fetal anomalies v1.329 C2CD3 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.329 C2CD3 Arina Puzriakova Gene: c2cd3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.328 C2CD3 Arina Puzriakova Tag for-review tag was added to gene: C2CD3.
Fetal anomalies v1.328 C21orf59 Arina Puzriakova Phenotypes for gene: C21orf59 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 26, OMIM:615500; Primary ciliary dyskinesia 26, MONDO:0014211
Fetal anomalies v1.327 C21orf59 Arina Puzriakova Classified gene: C21orf59 as Amber List (moderate evidence)
Fetal anomalies v1.327 C21orf59 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.327 C21orf59 Arina Puzriakova Gene: c21orf59 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.326 C21orf59 Arina Puzriakova Tag for-review tag was added to gene: C21orf59.
Fetal anomalies v1.326 B3GALNT2 Arina Puzriakova Phenotypes for gene: B3GALNT2 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, MONDO:0014071
Fetal anomalies v1.325 B3GALNT2 Arina Puzriakova Classified gene: B3GALNT2 as Amber List (moderate evidence)
Fetal anomalies v1.325 B3GALNT2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.325 B3GALNT2 Arina Puzriakova Gene: b3galnt2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.324 B3GALNT2 Arina Puzriakova Tag for-review tag was added to gene: B3GALNT2.
Fetal anomalies v1.324 ATR Arina Puzriakova Phenotypes for gene: ATR were changed from SECKEL SYNDROME TYPE 1 to Seckel syndrome 1, OMIM:210600; Seckel syndrome 1, MONDO:0008869
Fetal anomalies v1.323 ATR Arina Puzriakova Classified gene: ATR as Amber List (moderate evidence)
Fetal anomalies v1.323 ATR Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.323 ATR Arina Puzriakova Gene: atr has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.322 ATR Arina Puzriakova Tag for-review tag was added to gene: ATR.
Fetal anomalies v1.322 ARFGEF2 Arina Puzriakova Phenotypes for gene: ARFGEF2 were changed from PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY to Periventricular heterotopia with microcephaly, OMIM:608097
Fetal anomalies v1.321 ARFGEF2 Arina Puzriakova Classified gene: ARFGEF2 as Amber List (moderate evidence)
Fetal anomalies v1.321 ARFGEF2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.321 ARFGEF2 Arina Puzriakova Gene: arfgef2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.320 ARFGEF2 Arina Puzriakova Tag for-review tag was added to gene: ARFGEF2.
Fetal anomalies v1.320 ANTXR2 Arina Puzriakova Publications for gene: ANTXR2 were set to
Fetal anomalies v1.319 ANTXR2 Arina Puzriakova Classified gene: ANTXR2 as Amber List (moderate evidence)
Fetal anomalies v1.319 ANTXR2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene has been upgraded from Red to Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.319 ANTXR2 Arina Puzriakova Gene: antxr2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.318 ANTXR2 Arina Puzriakova Tag for-review tag was added to gene: ANTXR2.
Fetal anomalies v1.318 CREB3L1 Arina Puzriakova Classified gene: CREB3L1 as Amber List (moderate evidence)
Fetal anomalies v1.318 CREB3L1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.318 CREB3L1 Arina Puzriakova Gene: creb3l1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.317 CREB3L1 Arina Puzriakova Tag for-review tag was added to gene: CREB3L1.
Fetal anomalies v1.317 COLQ Arina Puzriakova Publications for gene: COLQ were set to PMID: 9689136; 11865139
Fetal anomalies v1.316 COLQ Arina Puzriakova Classified gene: COLQ as Amber List (moderate evidence)
Fetal anomalies v1.316 COLQ Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.316 COLQ Arina Puzriakova Gene: colq has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.315 COLQ Arina Puzriakova Tag for-review tag was added to gene: COLQ.
Fetal anomalies v1.315 COL12A1 Arina Puzriakova Classified gene: COL12A1 as Amber List (moderate evidence)
Fetal anomalies v1.315 COL12A1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.315 COL12A1 Arina Puzriakova Gene: col12a1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.314 COL12A1 Arina Puzriakova Tag for-review tag was added to gene: COL12A1.
Fetal anomalies v1.314 CNBP Arina Puzriakova Classified gene: CNBP as Amber List (moderate evidence)
Fetal anomalies v1.314 CNBP Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.314 CNBP Arina Puzriakova Gene: cnbp has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.313 COG6 Arina Puzriakova Classified gene: COG6 as Amber List (moderate evidence)
Fetal anomalies v1.313 COG6 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.313 COG6 Arina Puzriakova Gene: cog6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.312 COG6 Arina Puzriakova Tag for-review tag was added to gene: COG6.
Fetal anomalies v1.312 CNBP Arina Puzriakova Tag for-review tag was added to gene: CNBP.
Fetal anomalies v1.312 CHRNE Arina Puzriakova Classified gene: CHRNE as Amber List (moderate evidence)
Fetal anomalies v1.312 CHRNE Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.312 CHRNE Arina Puzriakova Gene: chrne has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.311 CHRNE Arina Puzriakova Tag for-review tag was added to gene: CHRNE.
Fetal anomalies v1.311 CHRNB1 Arina Puzriakova Classified gene: CHRNB1 as Amber List (moderate evidence)
Fetal anomalies v1.311 CHRNB1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.311 CHRNB1 Arina Puzriakova Gene: chrnb1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.310 CHRNB1 Arina Puzriakova Tag for-review tag was added to gene: CHRNB1.
Fetal anomalies v1.310 CHRNA3 Arina Puzriakova Classified gene: CHRNA3 as Amber List (moderate evidence)
Fetal anomalies v1.310 CHRNA3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.310 CHRNA3 Arina Puzriakova Gene: chrna3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.309 CHRNA3 Arina Puzriakova Tag for-review tag was added to gene: CHRNA3.
Fetal anomalies v1.309 CERS3 Arina Puzriakova Classified gene: CERS3 as Amber List (moderate evidence)
Fetal anomalies v1.309 CERS3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.309 CERS3 Arina Puzriakova Gene: cers3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.308 CERS3 Arina Puzriakova Tag for-review tag was added to gene: CERS3.
Fetal anomalies v1.308 CENPF Arina Puzriakova Classified gene: CENPF as Amber List (moderate evidence)
Fetal anomalies v1.308 CENPF Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.308 CENPF Arina Puzriakova Gene: cenpf has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.307 CENPF Arina Puzriakova Tag for-review tag was added to gene: CENPF.
Fetal anomalies v1.307 CELSR1 Arina Puzriakova Classified gene: CELSR1 as Amber List (moderate evidence)
Fetal anomalies v1.307 CELSR1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.307 CELSR1 Arina Puzriakova Gene: celsr1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.306 CELSR1 Arina Puzriakova Tag for-review tag was added to gene: CELSR1.
Fetal anomalies v1.306 CASR Arina Puzriakova Classified gene: CASR as Amber List (moderate evidence)
Fetal anomalies v1.306 CASR Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.306 CASR Arina Puzriakova Gene: casr has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.305 CANT1 Arina Puzriakova Classified gene: CANT1 as Amber List (moderate evidence)
Fetal anomalies v1.305 CANT1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.305 CANT1 Arina Puzriakova Gene: cant1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.304 CANT1 Arina Puzriakova Tag for-review tag was added to gene: CANT1.
Fetal anomalies v1.304 CACNA1G Arina Puzriakova Classified gene: CACNA1G as Amber List (moderate evidence)
Fetal anomalies v1.304 CACNA1G Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.304 CACNA1G Arina Puzriakova Gene: cacna1g has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.303 CACNA1G Arina Puzriakova Tag for-review tag was added to gene: CACNA1G.
Fetal anomalies v1.303 BNC2 Arina Puzriakova Classified gene: BNC2 as Amber List (moderate evidence)
Fetal anomalies v1.303 BNC2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.303 BNC2 Arina Puzriakova Gene: bnc2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.302 BNC2 Arina Puzriakova Tag for-review tag was added to gene: BNC2.
Fetal anomalies v1.302 B4GAT1 Arina Puzriakova Publications for gene: B4GAT1 were set to PMID: 23877401; 23359570
Fetal anomalies v1.301 B4GAT1 Arina Puzriakova Classified gene: B4GAT1 as Amber List (moderate evidence)
Fetal anomalies v1.301 B4GAT1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.301 B4GAT1 Arina Puzriakova Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.300 B4GAT1 Arina Puzriakova Tag for-review tag was added to gene: B4GAT1.
Fetal anomalies v1.300 ARHGAP29 Arina Puzriakova Classified gene: ARHGAP29 as Amber List (moderate evidence)
Fetal anomalies v1.300 ARHGAP29 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.300 ARHGAP29 Arina Puzriakova Gene: arhgap29 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.299 ARHGAP29 Arina Puzriakova Tag for-review tag was added to gene: ARHGAP29.
Fetal anomalies v1.299 ANKS6 Arina Puzriakova Classified gene: ANKS6 as Amber List (moderate evidence)
Fetal anomalies v1.299 ANKS6 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.299 ANKS6 Arina Puzriakova Gene: anks6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.298 ANKS6 Arina Puzriakova Tag for-review tag was added to gene: ANKS6.
Fetal anomalies v1.298 AMMECR1 Arina Puzriakova Classified gene: AMMECR1 as Amber List (moderate evidence)
Fetal anomalies v1.298 AMMECR1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.298 AMMECR1 Arina Puzriakova Gene: ammecr1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.297 AMMECR1 Arina Puzriakova Tag for-review tag was added to gene: AMMECR1.
Fetal anomalies v1.297 AMACR Arina Puzriakova Classified gene: AMACR as Amber List (moderate evidence)
Fetal anomalies v1.297 AMACR Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.297 AMACR Arina Puzriakova Gene: amacr has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.296 AMACR Arina Puzriakova Tag for-review tag was added to gene: AMACR.
Fetal anomalies v1.296 ALOXE3 Arina Puzriakova Classified gene: ALOXE3 as Amber List (moderate evidence)
Fetal anomalies v1.296 ALOXE3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.296 ALOXE3 Arina Puzriakova Gene: aloxe3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.295 ALOXE3 Arina Puzriakova Tag for-review tag was added to gene: ALOXE3.
Fetal anomalies v1.295 ALOX12B Arina Puzriakova Classified gene: ALOX12B as Amber List (moderate evidence)
Fetal anomalies v1.295 ALOX12B Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.295 ALOX12B Arina Puzriakova Gene: alox12b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.294 ALOX12B Arina Puzriakova Tag for-review tag was added to gene: ALOX12B.
Fetal anomalies v1.294 ALG2 Arina Puzriakova Tag for-review tag was added to gene: ALG2.
Fetal anomalies v1.294 ALG2 Arina Puzriakova Classified gene: ALG2 as Amber List (moderate evidence)
Fetal anomalies v1.294 ALG2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.294 ALG2 Arina Puzriakova Gene: alg2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.293 ABL1 Arina Puzriakova Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations to Congenital heart defects and skeletal malformations, OMIM:617602; Congenital heart defects and skeletal malformations syndrome, MONDO:0060532
Fetal anomalies v1.292 ABL1 Arina Puzriakova Classified gene: ABL1 as Amber List (moderate evidence)
Fetal anomalies v1.292 ABL1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.292 ABL1 Arina Puzriakova Gene: abl1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.291 ABL1 Arina Puzriakova Tag for-review tag was added to gene: ABL1.
Fetal anomalies v1.291 WDR81 Arina Puzriakova Publications for gene: WDR81 were set to
Fetal anomalies v1.290 WDR81 Arina Puzriakova Phenotypes for gene: WDR81 were changed from Hydrocephalus, congenital, 3, with brain anomalies to Hydrocephalus, congenital, 3, with brain anomalies, OMIM:617967; Hydrocephalus, congenital, 3, with brain anomalies, MONDO:0054794
Fetal anomalies v1.289 WDR81 Arina Puzriakova Classified gene: WDR81 as Amber List (moderate evidence)
Fetal anomalies v1.289 WDR81 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.289 WDR81 Arina Puzriakova Gene: wdr81 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.288 WDR81 Arina Puzriakova Tag for-review tag was added to gene: WDR81.
Fetal anomalies v1.288 MYOCD Arina Puzriakova Mode of inheritance for gene: MYOCD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.287 MYOCD Arina Puzriakova Publications for gene: MYOCD were set to
Fetal anomalies v1.286 MYOCD Arina Puzriakova Phenotypes for gene: MYOCD were changed from Megabladder, congenital to Megabladder, congenital, OMIM:618719; Megabladder, congenital, MONDO:0032879
Fetal anomalies v1.285 MYOCD Arina Puzriakova Classified gene: MYOCD as Amber List (moderate evidence)
Fetal anomalies v1.285 MYOCD Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.285 MYOCD Arina Puzriakova Gene: myocd has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.284 MYOCD Arina Puzriakova Tag for-review tag was added to gene: MYOCD.
Fetal anomalies v1.284 MYO9A Arina Puzriakova Publications for gene: MYO9A were set to
Fetal anomalies v1.283 MYO9A Arina Puzriakova Phenotypes for gene: MYO9A were changed from Myasthenic syndrome, congenital, 24, presynaptic to Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198; Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597
Fetal anomalies v1.282 MYO9A Arina Puzriakova Classified gene: MYO9A as Amber List (moderate evidence)
Fetal anomalies v1.282 MYO9A Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.282 MYO9A Arina Puzriakova Gene: myo9a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.281 MYO9A Arina Puzriakova Tag for-review tag was added to gene: MYO9A.
Fetal anomalies v1.281 MYO18B Arina Puzriakova Publications for gene: MYO18B were set to
Fetal anomalies v1.280 MYO18B Arina Puzriakova Phenotypes for gene: MYO18B were changed from Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549; Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689
Fetal anomalies v1.279 MYO18B Arina Puzriakova Classified gene: MYO18B as Amber List (moderate evidence)
Fetal anomalies v1.279 MYO18B Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.279 MYO18B Arina Puzriakova Gene: myo18b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.278 MYO18B Arina Puzriakova Tag for-review tag was added to gene: MYO18B.
Fetal anomalies v1.278 MYMK Arina Puzriakova Publications for gene: MYMK were set to
Fetal anomalies v1.277 MYMK Arina Puzriakova Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome to Carey-Fineman-Ziter syndrome, OMIM:254940; Carey-Fineman-Ziter syndrome, MONDO:0009700
Fetal anomalies v1.276 MYMK Arina Puzriakova Classified gene: MYMK as Amber List (moderate evidence)
Fetal anomalies v1.276 MYMK Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.276 MYMK Arina Puzriakova Gene: mymk has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.275 MYMK Arina Puzriakova Tag for-review tag was added to gene: MYMK.
Fetal anomalies v1.275 MYL1 Arina Puzriakova Phenotypes for gene: MYL1 were changed from Myopathy, congenital, with fast-twitch (type II) fiber atrophy to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
Fetal anomalies v1.274 MYL1 Arina Puzriakova Publications for gene: MYL1 were set to PMID: 30215711
Fetal anomalies v1.273 MYL1 Arina Puzriakova Classified gene: MYL1 as Amber List (moderate evidence)
Fetal anomalies v1.273 MYL1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.273 MYL1 Arina Puzriakova Gene: myl1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.272 MYL1 Arina Puzriakova Tag for-review tag was added to gene: MYL1.
Fetal anomalies v1.272 MYH7 Arina Puzriakova Phenotypes for gene: MYH7 were changed from Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Left ventricular noncompaction 5 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; Left ventricular noncompaction 5, OMIM:613426
Fetal anomalies v1.271 MYH7 Arina Puzriakova Publications for gene: MYH7 were set to PMID: 22859017; 25547560; 26337809
Fetal anomalies v1.270 MYH7 Arina Puzriakova Classified gene: MYH7 as Amber List (moderate evidence)
Fetal anomalies v1.270 MYH7 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.270 MYH7 Arina Puzriakova Gene: myh7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.269 MYH7 Arina Puzriakova Tag for-review tag was added to gene: MYH7.
Fetal anomalies v1.269 MYH2 Arina Puzriakova Publications for gene: MYH2 were set to
Fetal anomalies v1.268 MYH2 Arina Puzriakova Phenotypes for gene: MYH2 were changed from Proximal myopathy and ophthalmoplegia to Proximal myopathy and ophthalmoplegia, OMIM:605637; Myopathy, proximal, and ophthalmoplegia, MONDO:0011577
Fetal anomalies v1.267 MYH2 Arina Puzriakova Mode of inheritance for gene: MYH2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.266 MYH2 Arina Puzriakova Classified gene: MYH2 as Amber List (moderate evidence)
Fetal anomalies v1.266 MYH2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.266 MYH2 Arina Puzriakova Gene: myh2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.265 MYH2 Arina Puzriakova Tag for-review tag was added to gene: MYH2.
Fetal anomalies v1.265 MSTO1 Arina Puzriakova Publications for gene: MSTO1 were set to
Fetal anomalies v1.264 MSTO1 Arina Puzriakova Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia to Myopathy, mitochondrial, and ataxia, OMIM:617675; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714
Fetal anomalies v1.263 MSTO1 Arina Puzriakova Classified gene: MSTO1 as Amber List (moderate evidence)
Fetal anomalies v1.263 MSTO1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.263 MSTO1 Arina Puzriakova Gene: msto1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.262 MSTO1 Arina Puzriakova Tag for-review tag was added to gene: MSTO1.
Fetal anomalies v1.262 MSMO1 Arina Puzriakova Publications for gene: MSMO1 were set to
Fetal anomalies v1.261 MSMO1 Arina Puzriakova Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis to Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Fetal anomalies v1.260 MSMO1 Arina Puzriakova Classified gene: MSMO1 as Amber List (moderate evidence)
Fetal anomalies v1.260 MSMO1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.260 MSMO1 Arina Puzriakova Gene: msmo1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.259 MSMO1 Arina Puzriakova Tag for-review tag was added to gene: MSMO1.
Fetal anomalies v1.259 MRAS Arina Puzriakova Classified gene: MRAS as Amber List (moderate evidence)
Fetal anomalies v1.259 MRAS Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.259 MRAS Arina Puzriakova Gene: mras has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.258 MRAS Arina Puzriakova Tag for-review tag was added to gene: MRAS.
Fetal anomalies v1.258 MRAS Arina Puzriakova Publications for gene: MRAS were set to
Fetal anomalies v1.257 MRAS Arina Puzriakova Phenotypes for gene: MRAS were changed from Noonan syndrome 11 to Noonan syndrome 11, OMIM:618499; Noonan syndrome 11, MONDO:0032786
Fetal anomalies v1.256 MESD Arina Puzriakova Publications for gene: MESD were set to
Fetal anomalies v1.255 MESD Arina Puzriakova Phenotypes for gene: MESD were changed from Osteogenesis imperfecta, type XX to Osteogenesis imperfecta, type XX, OMIM:618644; Osteogenesis imperfecta, type 20, MONDO:0032846
Fetal anomalies v1.254 MESD Arina Puzriakova Classified gene: MESD as Amber List (moderate evidence)
Fetal anomalies v1.254 MESD Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.254 MESD Arina Puzriakova Gene: mesd has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.253 MESD Arina Puzriakova Tag for-review tag was added to gene: MESD.
Fetal anomalies v1.253 MEIS2 Arina Puzriakova Phenotypes for gene: MEIS2 were changed from Cleft palate, cardiac defects, and mental retardation to Cleft palate, cardiac defects, and mental retardation, OMIM:600987; Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970
Fetal anomalies v1.252 MEIS2 Arina Puzriakova Publications for gene: MEIS2 were set to
Fetal anomalies v1.251 MEIS2 Arina Puzriakova Classified gene: MEIS2 as Amber List (moderate evidence)
Fetal anomalies v1.251 MEIS2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.251 MEIS2 Arina Puzriakova Gene: meis2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.250 MEIS2 Arina Puzriakova Tag for-review tag was added to gene: MEIS2.
Fetal anomalies v1.250 MAP3K20 Arina Puzriakova Publications for gene: MAP3K20 were set to
Fetal anomalies v1.249 MAP3K20 Arina Puzriakova Phenotypes for gene: MAP3K20 were changed from Split-foot malformation with mesoaxial polydactyly; Centronuclear myopathy 6 with fiber-type disproportion to Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760; Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695; Split-foot malformation with mesoaxial polydactyly, OMIM:616890; Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816
Fetal anomalies v1.248 MAP3K20 Arina Puzriakova Classified gene: MAP3K20 as Amber List (moderate evidence)
Fetal anomalies v1.248 MAP3K20 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.248 MAP3K20 Arina Puzriakova Gene: map3k20 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.247 MAP3K20 Arina Puzriakova Tag for-review tag was added to gene: MAP3K20.
Fetal anomalies v1.247 MACF1 Arina Puzriakova Publications for gene: MACF1 were set to
Fetal anomalies v1.246 MACF1 Arina Puzriakova Phenotypes for gene: MACF1 were changed from Lissencephaly 9 with complex brainstem malformation to Lissencephaly 9 with complex brainstem malformation, OMIM:618325; Lissencephaly 9 with complex brainstem malformation, MONDO:0032677
Fetal anomalies v1.245 MACF1 Arina Puzriakova Classified gene: MACF1 as Amber List (moderate evidence)
Fetal anomalies v1.245 MACF1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.245 MACF1 Arina Puzriakova Gene: macf1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.244 MACF1 Arina Puzriakova Tag for-review tag was added to gene: MACF1.
Fetal anomalies v1.244 LRRC56 Arina Puzriakova Publications for gene: LRRC56 were set to
Fetal anomalies v1.243 LRRC56 Arina Puzriakova Phenotypes for gene: LRRC56 were changed from Ciliary dyskinesia, primary, 39 to Ciliary dyskinesia, primary, 39, OMIM:618254; Ciliary dyskinesia, primary, 39, MONDO:0032637
Fetal anomalies v1.242 LRRC56 Arina Puzriakova Classified gene: LRRC56 as Amber List (moderate evidence)
Fetal anomalies v1.242 LRRC56 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.242 LRRC56 Arina Puzriakova Gene: lrrc56 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.241 LRRC56 Arina Puzriakova Tag for-review tag was added to gene: LRRC56.
Fetal anomalies v1.241 KNL1 Arina Puzriakova Publications for gene: KNL1 were set to
Fetal anomalies v1.240 KNL1 Arina Puzriakova Phenotypes for gene: KNL1 were changed from Microcephaly 4, primary, autosomal recessive to Microcephaly 4, primary, autosomal recessive, OMIM:604321; Microcephaly 4, primary, autosomal recessive, MONDO:0011437
Fetal anomalies v1.239 KNL1 Arina Puzriakova Classified gene: KNL1 as Amber List (moderate evidence)
Fetal anomalies v1.239 KNL1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.239 KNL1 Arina Puzriakova Gene: knl1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.238 KNL1 Arina Puzriakova Tag for-review tag was added to gene: KNL1.
Fetal anomalies v1.238 KIAA0753 Arina Puzriakova Classified gene: KIAA0753 as Amber List (moderate evidence)
Fetal anomalies v1.238 KIAA0753 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.238 KIAA0753 Arina Puzriakova Gene: kiaa0753 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.237 KIAA0753 Arina Puzriakova Publications for gene: KIAA0753 were set to
Fetal anomalies v1.236 KIAA0753 Arina Puzriakova Phenotypes for gene: KIAA0753 were changed from ?Orofaciodigital syndrome XV to ?Orofaciodigital syndrome XV, OMIM:617127; Orofaciodigital syndrome XV, MONDO:0014932
Fetal anomalies v1.235 KIAA0753 Arina Puzriakova Tag for-review tag was added to gene: KIAA0753.
Fetal anomalies v1.235 KATNB1 Arina Puzriakova Publications for gene: KATNB1 were set to
Fetal anomalies v1.234 KATNB1 Arina Puzriakova Phenotypes for gene: KATNB1 were changed from Lissencephaly 6, with microcephaly to Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534
Fetal anomalies v1.233 KATNB1 Arina Puzriakova Classified gene: KATNB1 as Amber List (moderate evidence)
Fetal anomalies v1.233 KATNB1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.233 KATNB1 Arina Puzriakova Gene: katnb1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.232 KATNB1 Arina Puzriakova Tag for-review tag was added to gene: KATNB1.
Fetal anomalies v1.232 IFT81 Arina Puzriakova Publications for gene: IFT81 were set to
Fetal anomalies v1.231 IFT81 Arina Puzriakova Phenotypes for gene: IFT81 were changed from Short-rib thoracic dysplasia 19 with or without polydactyly to Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895; Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485
Fetal anomalies v1.230 IFT81 Arina Puzriakova Classified gene: IFT81 as Amber List (moderate evidence)
Fetal anomalies v1.230 IFT81 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.230 IFT81 Arina Puzriakova Gene: ift81 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.229 IFT81 Arina Puzriakova Tag for-review tag was added to gene: IFT81.
Fetal anomalies v1.229 MYPN Rhiannon Mellis gene: MYPN was added
gene: MYPN was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYPN were set to Nemaline myopathy 11, autosomal recessive, 617336
Review for gene: MYPN was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.229 ALG2 Rhiannon Mellis reviewed gene: ALG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228, ?Congenital disorder of glycosylation, type Ii, 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 ALG9 Rhiannon Mellis reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Il, 608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 ALOX12B Rhiannon Mellis gene: ALOX12B was added
gene: ALOX12B was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100
Review for gene: ALOX12B was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.229 ALOXE3 Rhiannon Mellis gene: ALOXE3 was added
gene: ALOXE3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545
Review for gene: ALOXE3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.229 AMACR Rhiannon Mellis gene: AMACR was added
gene: AMACR was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency, 614307
Review for gene: AMACR was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Peroxisomal disorders
Sources: Expert list
Fetal anomalies v1.229 AMMECR1 Rhiannon Mellis gene: AMMECR1 was added
gene: AMMECR1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990
Review for gene: AMMECR1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): IUGR and IGF abnormalities
Sources: Expert list
Fetal anomalies v1.229 ANKS6 Rhiannon Mellis gene: ANKS6 was added
gene: ANKS6 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382
Review for gene: ANKS6 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel
Sources: Expert list
Fetal anomalies v1.229 ANTXR2 Rhiannon Mellis reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30176098, 14508707, 20301698; Phenotypes: Hyaline fibromatosis syndrome, 228600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 ARFGEF2 Rhiannon Mellis reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Periventricular heterotopia with microcephaly, 608097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 ARHGAP29 Rhiannon Mellis gene: ARHGAP29 was added
gene: ARHGAP29 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ARHGAP29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARHGAP29 were set to cleft lip with or without cleft palate; Cleft palate
Review for gene: ARHGAP29 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Clefting
Sources: Expert list
Fetal anomalies v1.229 ATR Rhiannon Mellis reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seckel syndrome 1, 210600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 B3GALNT2 Rhiannon Mellis reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23453667; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 B4GAT1 Rhiannon Mellis gene: B4GAT1 was added
gene: B4GAT1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GAT1 were set to PMID: 23877401; 23359570
Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287
Review for gene: B4GAT1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comment: Severe structural brain phenotype and dysplastic kidneys, reported onset in utero. PMID: 23877401; PMID: 23359570
Sources: Expert list
Fetal anomalies v1.229 BNC2 Rhiannon Mellis gene: BNC2 was added
gene: BNC2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital, 618612
Review for gene: BNC2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.229 C21orf59 Rhiannon Mellis reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 26, 615500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 C2CD3 Rhiannon Mellis reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XIV, 615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CACNA1G Rhiannon Mellis gene: CACNA1G was added
gene: CACNA1G was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087
Review for gene: CACNA1G was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebellar hypoplasia
Sources: Expert list
Fetal anomalies v1.229 CANT1 Rhiannon Mellis gene: CANT1 was added
gene: CANT1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CANT1 were set to Epiphyseal dysplasia, multiple, 7, 617719; Desbuquois dysplasia 1, 251450
Review for gene: CANT1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.229 CASR Rhiannon Mellis gene: CASR was added
gene: CASR was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, 601198; Hypocalciuric hypercalcemia, type I, 145980; Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198
Review for gene: CASR was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.229 CCDC151 Rhiannon Mellis reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 30, 616037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CCDC8 Rhiannon Mellis reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 3, 614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CCDC88C Rhiannon Mellis reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus, congenital, 1, 236600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CDK5RAP2 Rhiannon Mellis reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 3, primary, autosomal recessive, 604804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CELSR1 Rhiannon Mellis gene: CELSR1 was added
gene: CELSR1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CELSR1 were set to hereditary lymphedema
Review for gene: CELSR1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Primary lymphoedema
Sources: Expert list
Fetal anomalies v1.229 CENPF Rhiannon Mellis gene: CENPF was added
gene: CENPF was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPF were set to PMID: 26820108; 25564561
Phenotypes for gene: CENPF were set to Stromme syndrome, 243605
Review for gene: CENPF was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Hydrocephalus; Limb disorders; Rare multisystem ciliopathy Super panel; Severe microcephaly

Additional comment: Fetal phenotype (ciliopathy) reported in PMID: 26820108 and PMID: 25564561
Sources: Expert list
Fetal anomalies v1.229 CEP135 Rhiannon Mellis reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CEP55 Rhiannon Mellis reviewed gene: CEP55: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CEP63 Rhiannon Mellis reviewed gene: CEP63: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Seckel syndrome 6, 614728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CERS3 Rhiannon Mellis gene: CERS3 was added
gene: CERS3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023
Review for gene: CERS3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.229 CFL2 Rhiannon Mellis reviewed gene: CFL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 7, autosomal recessive, 610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CHMP1A Rhiannon Mellis reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 8, 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CHRNA3 Rhiannon Mellis gene: CHRNA3 was added
gene: CHRNA3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA3 were set to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800
Review for gene: CHRNA3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.229 CHRNB1 Rhiannon Mellis gene: CHRNB1 was added
gene: CHRNB1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Review for gene: CHRNB1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.229 CHRNE Rhiannon Mellis gene: CHRNE was added
gene: CHRNE was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931
Review for gene: CHRNE was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comment: Phenotype on OMIM reported as including arthrogryposis multiplex in severe cases. Decreased fetal movements in some cases.
Sources: Expert list
Fetal anomalies v1.229 CIT Rhiannon Mellis reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 17, primary, autosomal recessive, 617090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CLP1 Rhiannon Mellis reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 10, 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 CNBP Rhiannon Mellis gene: CNBP was added
gene: CNBP was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CNBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CNBP were set to Myotonic dystrophy 2, 602668
Review for gene: CNBP was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.229 COG5 Rhiannon Mellis reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIi, 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 COG6 Rhiannon Mellis gene: COG6 was added
gene: COG6 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, 614576; Shaheen syndrome, 615328
Review for gene: COG6 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Congenital disorders of glycosylation
Sources: Expert list
Fetal anomalies v1.229 IFT52 Arina Puzriakova Publications for gene: IFT52 were set to
Fetal anomalies v1.228 COL12A1 Rhiannon Mellis gene: COL12A1 was added
gene: COL12A1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL12A1 were set to Bethlem myopathy 2, 616471; ?Ullrich congenital muscular dystrophy 2, 616470
Review for gene: COL12A1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis

Additional comment: At least three affected families with Bethlem myopathy which is associated with early contractures (?congenital) as well as two brothers with Ulrich congenital muscular dystrophy which is associated with arthrogryposis
Sources: Expert list
Fetal anomalies v1.228 COL13A1 Rhiannon Mellis reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 19, 616720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.228 COLEC10 Rhiannon Mellis reviewed gene: COLEC10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3MC syndrome 3, 248340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.228 COLQ Rhiannon Mellis gene: COLQ was added
gene: COLQ was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLQ were set to PMID: 9689136; 11865139
Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034
Review for gene: COLQ was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis

Additional comment: I can’t see any reported cases specifically with arthrogryposis, but some cases presented at birth with hypotonia/weakness/fatigability. PMID: 9689136; 11865139. Therefore included on basis of severe neonatal phenotype that may conceivably also present prenatally.
Sources: Expert list
Fetal anomalies v1.228 CREB3L1 Rhiannon Mellis gene: CREB3L1 was added
gene: CREB3L1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI, 616229
Review for gene: CREB3L1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.228 CRIPT Rhiannon Mellis gene: CRIPT was added
gene: CRIPT was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies, 615789
Review for gene: CRIPT was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): IUGR and IGF abnormalities
Sources: Expert list
Fetal anomalies v1.228 CTU2 Rhiannon Mellis gene: CTU2 was added
gene: CTU2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142
Review for gene: CTU2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.228 CYP26B1 Rhiannon Mellis gene: CYP26B1 was added
gene: CYP26B1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
Review for gene: CYP26B1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Craniosynostosis
Sources: Expert list
Fetal anomalies v1.228 CYP4F22 Rhiannon Mellis gene: CYP4F22 was added
gene: CYP4F22 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777
Review for gene: CYP4F22 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.228 DDX59 Rhiannon Mellis reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome V, 174300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.228 IFT52 Arina Puzriakova Phenotypes for gene: IFT52 were changed from Short-rib thoracic dysplasia 16 with or without polydactyly to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
Fetal anomalies v1.227 DENND5A Rhiannon Mellis reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 49, 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.227 IFT52 Arina Puzriakova Classified gene: IFT52 as Amber List (moderate evidence)
Fetal anomalies v1.227 IFT52 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.227 IFT52 Arina Puzriakova Gene: ift52 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.226 IFT52 Arina Puzriakova Tag for-review tag was added to gene: IFT52.
Fetal anomalies v1.226 DIAPH1 Rhiannon Mellis gene: DIAPH1 was added
gene: DIAPH1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIAPH1 were set to Seizures, cortical blindness, microcephaly syndrome, 616632
Review for gene: DIAPH1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Severe microcephaly
Sources: Expert list
Fetal anomalies v1.226 DISP1 Rhiannon Mellis gene: DISP1 was added
gene: DISP1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DISP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DISP1 were set to 27363716
Phenotypes for gene: DISP1 were set to Holoprosencephaly
Review for gene: DISP1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebral malformations; Holoprosencephaly
Sources: Expert list
Fetal anomalies v1.226 IDH1 Arina Puzriakova Classified gene: IDH1 as Amber List (moderate evidence)
Fetal anomalies v1.226 IDH1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.226 IDH1 Arina Puzriakova Gene: idh1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.225 IDH1 Arina Puzriakova Tag for-review tag was added to gene: IDH1.
Fetal anomalies v1.225 DLX5 Rhiannon Mellis gene: DLX5 was added
gene: DLX5 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DLX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DLX5 were set to ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600; Split-hand/foot malformation 1, 183600
Review for gene: DLX5 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.225 DNAAF2 Rhiannon Mellis gene: DNAAF2 was added
gene: DNAAF2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF2 were set to Ciliary dyskinesia, primary, 10, 612518
Review for gene: DNAAF2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Primary ciliary disorders
Sources: Expert list
Fetal anomalies v1.225 DNAAF5 Rhiannon Mellis reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 18,614874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.225 DNAI2 Rhiannon Mellis gene: DNAI2 was added
gene: DNAI2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus,612444
Review for gene: DNAI2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders
Sources: Expert list
Fetal anomalies v1.225 DNAJB11 Rhiannon Mellis gene: DNAJB11 was added
gene: DNAJB11 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease, 618061
Review for gene: DNAJB11 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Polycystic liver disease
Sources: Expert list
Fetal anomalies v1.225 DNAL1 Rhiannon Mellis gene: DNAL1 was added
gene: DNAL1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAL1 were set to Ciliary dyskinesia, primary, 16, 614017
Review for gene: DNAL1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Primary ciliary disorders

Additional comment: causes situs inversus
Sources: Expert list
Fetal anomalies v1.225 DNM1L Rhiannon Mellis gene: DNM1L was added
gene: DNM1L was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388
Review for gene: DNM1L was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Peroxisomal disorders
Sources: Expert list
Fetal anomalies v1.225 ICK Arina Puzriakova Publications for gene: ICK were set to
Fetal anomalies v1.224 ICK Arina Puzriakova commented on gene: ICK: Added new-gene-name tag, new approved HGNC gene symbol for ICK is CILK1
Fetal anomalies v1.224 ICK Arina Puzriakova Tag new-gene-name tag was added to gene: ICK.
Fetal anomalies v1.224 ICK Arina Puzriakova Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Fetal anomalies v1.223 ICK Arina Puzriakova Classified gene: ICK as Amber List (moderate evidence)
Fetal anomalies v1.223 ICK Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.223 ICK Arina Puzriakova Gene: ick has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.222 ICK Arina Puzriakova Tag for-review tag was added to gene: ICK.
Fetal anomalies v1.222 HMGA2 Arina Puzriakova Publications for gene: HMGA2 were set to
Fetal anomalies v1.221 HMGA2 Arina Puzriakova Phenotypes for gene: HMGA2 were changed from Silver-Russell syndrome 5 to Silver-Russell syndrome 5, OMIM:618908; Silver-Russell syndrome 5, MONDO:0020795
Fetal anomalies v1.220 HMGA2 Arina Puzriakova Tag for-review tag was added to gene: HMGA2.
Fetal anomalies v1.220 HMGA2 Arina Puzriakova Classified gene: HMGA2 as Amber List (moderate evidence)
Fetal anomalies v1.220 HMGA2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.220 HMGA2 Arina Puzriakova Gene: hmga2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.219 GDF2 Arina Puzriakova Classified gene: GDF2 as Red List (low evidence)
Fetal anomalies v1.219 GDF2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single family with 2 sibs affected by lymphatic dysplasia, hydrothorax and nonimmune hydrops fetalis. Homozygous truncating variant in GDF2 was detected which segregated with the disorder (PMID:32618121).

Rating Red as additional cases/functional evidence required to corroborate this gene-disease association.
Fetal anomalies v1.219 GDF2 Arina Puzriakova Gene: gdf2 has been classified as Red List (Low Evidence).
Fetal anomalies v1.218 AKT2 Arina Puzriakova Publications for gene: AKT2 were set to
Fetal anomalies v1.217 AKT2 Arina Puzriakova Phenotypes for gene: AKT2 were changed from Hypoinsulinemic hypoglycemia with hemihypertrophy to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
Fetal anomalies v1.216 AKT2 Arina Puzriakova Classified gene: AKT2 as Amber List (moderate evidence)
Fetal anomalies v1.216 AKT2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.216 AKT2 Arina Puzriakova Gene: akt2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.215 AKT2 Arina Puzriakova Tag for-review tag was added to gene: AKT2.
Fetal anomalies v1.215 DNM2 Rhiannon Mellis gene: DNM2 was added
gene: DNM2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DNM2 were set to PMID: 30208955
Phenotypes for gene: DNM2 were set to Lethal congenital contracture syndrome 5, 615368
Review for gene: DNM2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis

Additional comment: AR Phenotype = lethal congenital contracture syndrome – definite prenatal phenotype with arthrogryposis, decreased fetal movements, polyhydramnios. Mutations only identified in three siblings although supported by animal models --> Moderate evidence for arthrogryposis --> Made green on arthrogryposis panel after internal discussion (Jan 2017)

NB in 2018 a further report of 3 unrelated cases with heterozygous DNM2 pathogenic variants with a more severe phenotype than usual for the AD disease (centronuclear myopathy) – all 3 had severe hypotonia and respiratory distress from birth. 1 had reduced fetal movements, polyhydramnios, distal contractures at birth (born at 29/40). 1 had micrognathia and clenched fists prenatally, multiple contractures at birth. All 3 were ventilator-dependent and died within first few months of life. (i.e. some overlap with the lethal congenital contracture phenotype despite heterozygous variants). PMID: 30208955
Sources: Expert list
Fetal anomalies v1.215 DONSON Rhiannon Mellis gene: DONSON was added
gene: DONSON was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DONSON were set to Microcephaly-micromelia syndrome, 251230; Microcephaly, short stature, and limb abnormalities, 617604
Review for gene: DONSON was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Severe microcephaly
Sources: Expert list
Fetal anomalies v1.215 DPM2 Rhiannon Mellis gene: DPM2 was added
gene: DPM2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu, 615042
Review for gene: DPM2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.215 DPM3 Rhiannon Mellis reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.215 DYNC2LI1 Rhiannon Mellis gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly, 617088
Review for gene: DYNC2LI1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Clefting; Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies
Sources: Expert list
Fetal anomalies v1.215 DZIP1L Rhiannon Mellis gene: DZIP1L was added
gene: DZIP1L was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DZIP1L were set to Polycystic kidney disease 5, 617610
Review for gene: DZIP1L was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel)
Sources: Expert list
Fetal anomalies v1.215 EED Rhiannon Mellis reviewed gene: EED: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cohen-Gibson syndrome, 617561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.215 EIF2S3 Rhiannon Mellis reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MEHMO syndrome, 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.215 EML1 Rhiannon Mellis gene: EML1 was added
gene: EML1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EML1 were set to Band heterotopia, 600348
Review for gene: EML1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Hydrocephalus
Sources: Expert list
Fetal anomalies v1.215 EMX2 Rhiannon Mellis gene: EMX2 was added
gene: EMX2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EMX2 were set to Schizencephaly, 269160
Review for gene: EMX2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebral malformations; Malformations of cortical development
Sources: Expert list
Fetal anomalies v1.215 FAM46A Rhiannon Mellis gene: FAM46A was added
gene: FAM46A was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII
Review for gene: FAM46A was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.215 FANCL Rhiannon Mellis reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group L; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.215 FIG4 Rhiannon Mellis reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Yunis-Varon syndrome, Charcot-Marie-Tooth disease, type 4J, ?Polymicrogyria, bilateral temporooccipital; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.215 FKBP10 Rhiannon Mellis gene: FKBP10 was added
gene: FKBP10 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP10 were set to Bruck syndrome 1; Osteogenesis imperfecta, type XI
Review for gene: FKBP10 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.215 FUT8 Rhiannon Mellis gene: FUT8 was added
gene: FUT8 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation 1
Review for gene: FUT8 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Congenital disorders of glycosylation
Sources: Expert list
Fetal anomalies v1.215 FZD2 Rhiannon Mellis gene: FZD2 was added
gene: FZD2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FZD2 were set to Omodysplasia 2
Review for gene: FZD2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.215 GALNT2 Rhiannon Mellis gene: GALNT2 was added
gene: GALNT2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt
Review for gene: GALNT2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Congenital disorders of glycosylation
Sources: Expert list
Fetal anomalies v1.215 GANAB Rhiannon Mellis gene: GANAB was added
gene: GANAB was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GANAB were set to Polycystic kidney disease 3
Review for gene: GANAB was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Polycystic liver disease
Sources: Expert list
Fetal anomalies v1.215 GATA3 Rhiannon Mellis gene: GATA3 was added
gene: GATA3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia
Review for gene: GATA3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.215 GFPT1 Rhiannon Mellis gene: GFPT1 was added
gene: GFPT1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Congenital disorders of glycosylation
Sources: Expert list
Fetal anomalies v1.215 GFRA1 Arina Puzriakova Classified gene: GFRA1 as Amber List (moderate evidence)
Fetal anomalies v1.215 GFRA1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Two unrelated families with non-syndromic bilateral renal agenesis, detected during the prenatal period, and distinct homozygous LoF variants in GFRA1. Animal models support a role in renal morphogenesis (PMID:33020172).

Rating Amber awaiting further cases/clinical evidence prior to inclusion as diagnositc-grade.
Fetal anomalies v1.215 GFRA1 Arina Puzriakova Gene: gfra1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.214 GLI1 Rhiannon Mellis gene: GLI1 was added
gene: GLI1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GLI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLI1 were set to Polydactyly, postaxial, type A8 618123; Polydactyly, preaxial I 174400
Review for gene: GLI1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders
Sources: Expert list
Fetal anomalies v1.214 GMNN Rhiannon Mellis reviewed gene: GMNN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 6 OMIM 616835; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.214 GPC6 Rhiannon Mellis reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Omodysplasia 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 GREB1L Rhiannon Mellis changed review comment from: Further cases of renal agenesis with GREBL1 pathogenic variants reported by Herlin et al, 2019 and Jacquinet et al 2020 (see below). However I note this gene has recently been changed from Green to Amber at NHSE request.

PMID: 31424080: One family including a preterm infant with bilateral renal agenesis and Potters sequence.
PMID: 32378186: Four families including fetuses with uterovaginal aplasia and bilateral renal agenesis.; to: Further cases of renal agenesis with GREBL1 pathogenic variants reported by Herlin et al, 2019 and Jacquinet et al 2020 (see below).

PMID: 31424080: One family including a preterm infant with bilateral renal agenesis and Potters sequence.
PMID: 32378186: Four families including fetuses with uterovaginal aplasia and bilateral renal agenesis.
Fetal anomalies v1.214 GSC Rhiannon Mellis gene: GSC was added
gene: GSC was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSC were set to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
Review for gene: GSC was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.214 GZF1 Rhiannon Mellis reviewed gene: GZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joint laxity, short stature, and myopia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 HADHB Rhiannon Mellis gene: HADHB was added
gene: HADHB was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency
Review for gene: HADHB was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders

Additional comment: Different clinical forms, including rapidly progressive neonatal onset with early death - associated with hydrops prenatally
Sources: Expert list
Fetal anomalies v1.214 HESX1 Rhiannon Mellis reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Septooptic dysplasia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.214 HIST1H1E Rhiannon Mellis reviewed gene: HIST1H1E: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rahman syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.214 HMGA2 Rhiannon Mellis gene: HMGA2 was added
gene: HMGA2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HMGA2 were set to Silver-Russell syndrome 5
Review for gene: HMGA2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Silver Russell syndrome
Sources: Expert list
Fetal anomalies v1.214 ICK Rhiannon Mellis gene: ICK was added
gene: ICK was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia
Review for gene: ICK was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Clefting; Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies
Sources: Expert list
Fetal anomalies v1.214 IDH1 Rhiannon Mellis gene: IDH1 was added
gene: IDH1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IDH1 were set to 22025298; 22057236; 22057234; 24049096
Phenotypes for gene: IDH1 were set to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000
Review for gene: IDH1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia

Copied from skeletal dysplasias panel: Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD), disorganized development of skeletal components gp of SD - Somatic mosaicism seen in at least 3 cases with enchondromatosis (various types)/ metaphyseal chondromatosis. amber/green -Somatic mosaic missense variants in enchondromas. Listed in Bonafe (MetaphysealchondromatosiswithD-2-hydroxyglutaric aciduria).
Sources: Expert list
Fetal anomalies v1.214 IFT52 Rhiannon Mellis gene: IFT52 was added
gene: IFT52 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT52 were set to Short-rib thoracic dysplasia 16 with or without polydactyly
Review for gene: IFT52 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies
Sources: Expert list
Fetal anomalies v1.214 IFT81 Rhiannon Mellis gene: IFT81 was added
gene: IFT81 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly
Review for gene: IFT81 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies
Sources: Expert list
Fetal anomalies v1.214 ITGA8 Rhiannon Mellis reviewed gene: ITGA8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal hypodysplasia/aplasia 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 KATNB1 Rhiannon Mellis gene: KATNB1 was added
gene: KATNB1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly
Review for gene: KATNB1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebral malformations; Malformations of cortical development
Sources: Expert list
Fetal anomalies v1.214 KIAA0753 Rhiannon Mellis gene: KIAA0753 was added
gene: KIAA0753 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0753 were set to ?Orofaciodigital syndrome XV
Review for gene: KIAA0753 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.214 KIF2A Rhiannon Mellis reviewed gene: KIF2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.214 KIF5C Rhiannon Mellis reviewed gene: KIF5C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.214 KLHL7 Rhiannon Mellis reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PERCHING syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 KNL1 Rhiannon Mellis gene: KNL1 was added
gene: KNL1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive
Review for gene: KNL1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Severe microcephaly
Sources: Expert list
Fetal anomalies v1.214 LAMB1 Rhiannon Mellis reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 LONP1 Rhiannon Mellis reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CODAS syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 LRRC56 Rhiannon Mellis gene: LRRC56 was added
gene: LRRC56 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39
Review for gene: LRRC56 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Laterality disorders and isomerism
Sources: Expert list
Fetal anomalies v1.214 MACF1 Rhiannon Mellis gene: MACF1 was added
gene: MACF1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation
Review for gene: MACF1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebellar hypoplasia; Cerebral malformations; Malformations of cortical development
Sources: Expert list
Fetal anomalies v1.214 MAP3K20 Rhiannon Mellis gene: MAP3K20 was added
gene: MAP3K20 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAP3K20 were set to Split-foot malformation with mesoaxial polydactyly; Centronuclear myopathy 6 with fiber-type disproportion
Review for gene: MAP3K20 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.214 MAP3K7 Rhiannon Mellis reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontometaphyseal dysplasia 2, Cardiospondylocarpofacial syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.214 MEIS2 Rhiannon Mellis gene: MEIS2 was added
gene: MEIS2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MEIS2 were set to Cleft palate, cardiac defects, and mental retardation
Review for gene: MEIS2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Clefting
Sources: Expert list
Fetal anomalies v1.214 MEOX1 Rhiannon Mellis reviewed gene: MEOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Klippel-Feil syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 MESD Rhiannon Mellis gene: MESD was added
gene: MESD was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX
Review for gene: MESD was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Osteogenesis imperfecta
Sources: Expert list
Fetal anomalies v1.214 MOGS Rhiannon Mellis reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIb; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 MRAS Rhiannon Mellis gene: MRAS was added
gene: MRAS was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MRAS were set to Noonan syndrome 11
Review for gene: MRAS was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): RASopathies
Sources: Expert list
Fetal anomalies v1.214 MSMO1 Rhiannon Mellis gene: MSMO1 was added
gene: MSMO1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis
Review for gene: MSMO1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Severe microcephaly
Sources: Expert list
Fetal anomalies v1.214 MSTO1 Rhiannon Mellis gene: MSTO1 was added
gene: MSTO1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia
Review for gene: MSTO1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.214 MYH2 Rhiannon Mellis gene: MYH2 was added
gene: MYH2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia
Review for gene: MYH2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comments: Congenital contractures in some which improve with time - Contractures at birth are described (in some cases) so could be detected prenatally.
Sources: Expert list
Fetal anomalies v1.214 MYH7 Rhiannon Mellis gene: MYH7 was added
gene: MYH7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH7 were set to PMID: 22859017; 25547560; 26337809
Phenotypes for gene: MYH7 were set to Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Left ventricular noncompaction 5
Review for gene: MYH7 was set to GREEN
Added comment: Currently Green on arthrogryposis panel but no clear association with arthrogryposis in literature, it seems to be a more a slowly progressive myopathy phenotype.

However, there are four reported cases of fetal cardiomyopathy related to MYH7, detectable on ultrasound. PMID: 22859017, PMID: 25547560, PMID: 26337809
Sources: Literature
Fetal anomalies v1.214 MYL1 Rhiannon Mellis gene: MYL1 was added
gene: MYL1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL1 were set to PMID: 30215711
Phenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy
Review for gene: MYL1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comment: Predominant phenotype is severe hypotonia and respiratory failure from birth. 2 patients are reported: one had polyhydramnios and normal fetal movements, with mild flexion contractures at birth. The other had normal liquor volume, reduced fetal movements, no contractures. (PMID: 30215711). But severe neonatal phenotype so include as relevant.
Sources: Expert list
Fetal anomalies v1.214 MYMK Rhiannon Mellis gene: MYMK was added
gene: MYMK was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome
Review for gene: MYMK was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Clefting; Hydrocephalus; Neuromuscular disorders

Additional comment: Phenotype includes congenital contractures, talipes, Pierre-Robin sequence, clefts, reduced fetal movements.
Sources: Expert list
Fetal anomalies v1.214 MYO18B Rhiannon Mellis gene: MYO18B was added
gene: MYO18B was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO18B were set to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
Review for gene: MYO18B was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.214 MYO9A Rhiannon Mellis gene: MYO9A was added
gene: MYO9A was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic
Review for gene: MYO9A was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.214 MYOCD Rhiannon Mellis gene: MYOCD was added
gene: MYOCD was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYOCD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYOCD were set to Megabladder, congenital
Review for gene: MYOCD was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.214 NADSYN1 Rhiannon Mellis gene: NADSYN1 was added
gene: NADSYN1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NADSYN1 were set to Vertebral, cardiac, renal, and limb defects syndrome 3
Review for gene: NADSYN1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.214 NECTIN1 Rhiannon Mellis gene: NECTIN1 was added
gene: NECTIN1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome; Orofacial cleft 7
Review for gene: NECTIN1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Clefting
Sources: Expert list
Fetal anomalies v1.214 NEDD4L Rhiannon Mellis reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Periventricular nodular heterotopia 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.214 NEK8 Rhiannon Mellis reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 18199800, 23418306, 26967905, 26697755, 26862157; Phenotypes: NEPHRONOPHTHISIS 9, RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.214 TOR1A Arina Puzriakova Phenotypes for gene: TOR1A were changed from Arthrogryposis multiplex congenita 5 to Arthrogryposis multiplex congenita 5, OMIM:618947; Arthrogryposis multiplex congenita 5, MONDO:0100218
Fetal anomalies v1.213 NIPAL4 Rhiannon Mellis gene: NIPAL4 was added
gene: NIPAL4 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6
Review for gene: NIPAL4 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.213 NXN Rhiannon Mellis gene: NXN was added
gene: NXN was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2
Review for gene: NXN was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.213 TOR1A Arina Puzriakova Classified gene: TOR1A as Amber List (moderate evidence)
Fetal anomalies v1.213 TOR1A Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.213 TOR1A Arina Puzriakova Gene: tor1a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.212 TOR1A Arina Puzriakova Tag for-review tag was added to gene: TOR1A.
Fetal anomalies v1.212 TNNT3 Arina Puzriakova Tag for-review tag was added to gene: TNNT3.
Fetal anomalies v1.212 TNNT3 Arina Puzriakova Classified gene: TNNT3 as Amber List (moderate evidence)
Fetal anomalies v1.212 TNNT3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.212 TNNT3 Arina Puzriakova Gene: tnnt3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.211 OSGEP Rhiannon Mellis reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galloway-Mowat syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.211 P4HB Rhiannon Mellis reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cole-Carpenter syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.211 TNNT3 Arina Puzriakova Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B2 to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750
Fetal anomalies v1.210 TNNT3 Arina Puzriakova Publications for gene: TNNT3 were set to 32779773
Fetal anomalies v1.209 PAX7 Rhiannon Mellis gene: PAX7 was added
gene: PAX7 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAX7 were set to Myopathy, congenital, progressive, with scoliosis
Review for gene: PAX7 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.209 PBX1 Rhiannon Mellis gene: PBX1 was added
gene: PBX1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Review for gene: PBX1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.209 PFKM Rhiannon Mellis gene: PFKM was added
gene: PFKM was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease VII
Review for gene: PFKM was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comment: literature supports arthrogryposis in severe infantile form
Sources: Expert list, Literature
Fetal anomalies v1.209 PGM3 Rhiannon Mellis reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28543917, PMID: 24931394; Phenotypes: Immunodeficiency 23; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.209 PIBF1 Rhiannon Mellis gene: PIBF1 was added
gene: PIBF1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33
Review for gene: PIBF1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel
Sources: Expert list
Fetal anomalies v1.209 PIGN Rhiannon Mellis reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.209 TMX2 Arina Puzriakova Publications for gene: TMX2 were set to
Fetal anomalies v1.208 TMX2 Arina Puzriakova Phenotypes for gene: TMX2 were changed from Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
Fetal anomalies v1.207 TMX2 Arina Puzriakova Classified gene: TMX2 as Amber List (moderate evidence)
Fetal anomalies v1.207 TMX2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.207 TMX2 Arina Puzriakova Gene: tmx2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.206 TMX2 Arina Puzriakova Tag for-review tag was added to gene: TMX2.
Fetal anomalies v1.206 TMEM98 Arina Puzriakova Publications for gene: TMEM98 were set to
Fetal anomalies v1.205 PIH1D3 Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders
Sources: Expert list; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders
Sources: Expert list

Situs inversus in ~50%
Fetal anomalies v1.205 PIH1D3 Rhiannon Mellis gene: PIH1D3 was added
gene: PIH1D3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked
Review for gene: PIH1D3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders
Sources: Expert list
Fetal anomalies v1.205 PIK3C2A Rhiannon Mellis gene: PIK3C2A was added
gene: PIK3C2A was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome
Review for gene: PIK3C2A was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.205 PITX1 Rhiannon Mellis reviewed gene: PITX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, Liebenberg syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.205 PLAG1 Rhiannon Mellis gene: PLAG1 was added
gene: PLAG1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PLAG1 were set to Silver-Russell syndrome 4
Review for gene: PLAG1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Silver Russell syndrome
Sources: Expert list
Fetal anomalies v1.205 PLG Rhiannon Mellis gene: PLG was added
gene: PLG was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLG were set to Plasminogen deficiency, type I
Review for gene: PLG was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Hydrocephalus

Additional comment: structural features detectable prenatally = -Occlusive hydrocephalus, congenital; Dandy-Walker malformation; Cerebellar hypoplasia
Sources: Expert list
Fetal anomalies v1.205 PNPLA1 Rhiannon Mellis reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.205 POLG2 Rhiannon Mellis gene: POLG2 was added
gene: POLG2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Review for gene: POLG2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.205 POLR1A Rhiannon Mellis reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrofacial dysostosis, Cincinnati type; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.205 POP1 Rhiannon Mellis gene: POP1 was added
gene: POP1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2
Review for gene: POP1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.205 PRKAG2 Rhiannon Mellis gene: PRKAG2 was added
gene: PRKAG2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic 6; Glycogen storage disease of heart, lethal congenital
Review for gene: PRKAG2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.205 TMEM98 Arina Puzriakova Phenotypes for gene: TMEM98 were changed from Nanophthalmos 4 to Nanophthalmos 4, OMIM:615972; Nanophthalmos 4, MONDO:0014426
Fetal anomalies v1.204 TMEM98 Arina Puzriakova Classified gene: TMEM98 as Amber List (moderate evidence)
Fetal anomalies v1.204 TMEM98 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.204 TMEM98 Arina Puzriakova Gene: tmem98 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.203 PRUNE1 Rhiannon Mellis reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.203 TMEM98 Arina Puzriakova Tag for-review tag was added to gene: TMEM98.
Fetal anomalies v1.203 PSAT1 Rhiannon Mellis reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neu-Laxova syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.203 TMEM38B Arina Puzriakova Publications for gene: TMEM38B were set to
Fetal anomalies v1.202 PTPN14 Rhiannon Mellis reviewed gene: PTPN14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choanal atresia and lymphedema; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.202 PYGM Rhiannon Mellis gene: PYGM was added
gene: PYGM was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McArdle disease
Review for gene: PYGM was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.202 TMEM38B Arina Puzriakova Phenotypes for gene: TMEM38B were changed from Osteogenesis imperfecta, type XIV to Osteogenesis imperfecta, type XIV, OMIM:615066; Osteogenesis imperfecta type 14, MONDO:0014029
Fetal anomalies v1.201 RAB33B Rhiannon Mellis gene: RAB33B was added
gene: RAB33B was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2
Review for gene: RAB33B was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.201 RBBP8 Rhiannon Mellis gene: RBBP8 was added
gene: RBBP8 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBBP8 were set to Seckel syndrome 2
Review for gene: RBBP8 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): IUGR and IGF abnormalities; Severe microcephaly
Sources: Expert list
Fetal anomalies v1.201 RBM10 Rhiannon Mellis reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: TARP syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.201 RFT1 Rhiannon Mellis reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type In; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.201 ROBO3 Rhiannon Mellis reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.201 TMEM38B Arina Puzriakova Classified gene: TMEM38B as Amber List (moderate evidence)
Fetal anomalies v1.201 TMEM38B Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.201 TMEM38B Arina Puzriakova Gene: tmem38b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.200 TMEM38B Arina Puzriakova Tag for-review tag was added to gene: TMEM38B.
Fetal anomalies v1.200 RPL10 Rhiannon Mellis gene: RPL10 was added
gene: RPL10 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35
Review for gene: RPL10 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): IUGR and IGF abnormalities; Severe microcephaly
Sources: Expert list
Fetal anomalies v1.200 TENM3 Arina Puzriakova Publications for gene: TENM3 were set to
Fetal anomalies v1.199 TENM3 Arina Puzriakova Phenotypes for gene: TENM3 were changed from Microphthalmia, syndromic 15; ?Microphthalmia, isolated, with coloboma 9 to Microphthalmia, syndromic 15, OMIM:615145; ?Microphthalmia, isolated, with coloboma 9, OMIM:615145; Microphthalmia, isolated, with coloboma 9, MONDO:0014059
Fetal anomalies v1.198 RPL35A Rhiannon Mellis reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.198 TENM3 Arina Puzriakova Classified gene: TENM3 as Amber List (moderate evidence)
Fetal anomalies v1.198 TENM3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.198 TENM3 Arina Puzriakova Gene: tenm3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.197 TENM3 Arina Puzriakova Tag for-review tag was added to gene: TENM3.
Fetal anomalies v1.197 RPS24 Rhiannon Mellis reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-blackfan anemia 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.197 TCTEX1D2 Arina Puzriakova Publications for gene: TCTEX1D2 were set to
Fetal anomalies v1.196 RPS7 Rhiannon Mellis gene: RPS7 was added
gene: RPS7 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8
Review for gene: RPS7 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders; Radial dysplasia
Sources: Expert list
Fetal anomalies v1.196 RRAS2 Rhiannon Mellis gene: RRAS2 was added
gene: RRAS2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RRAS2 were set to Noonan syndrome 12
Review for gene: RRAS2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): RASopathies
Sources: Expert list
Fetal anomalies v1.196 TCTEX1D2 Arina Puzriakova Phenotypes for gene: TCTEX1D2 were changed from Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 to Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; Jeune asphyxiating thoracic dystrophy; JATD
Fetal anomalies v1.195 RSPH4A Rhiannon Mellis reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.195 RSPH9 Rhiannon Mellis reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.195 SCLT1 Rhiannon Mellis gene: SCLT1 was added
gene: SCLT1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCLT1 were set to No OMIM phenotype; Oro-facio-digital syndrome type IX; Senior-Løken Syndrome
Review for gene: SCLT1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel


Copied from rare multisystem ciliopathies panel:
PMID: 24285566 - Adly et al 2014 - 1 case with index patient with consanguineous Saudi parents and a severe ciliopathy phenotype. He had severe midline cleft lip and palate, microcephaly and choanal atresia. He also had significant eye involvement in the form of severe coloboma, and congenital heart disease (ASD and VSD). He had micropenis. Brain imaging revealed pachygyria and absent corpus callosum. He had abnormal inner ear structures. A splicing mutation was identified in SCLT1 (, NM_144643.2:exon5:c.290+2T>C). This mutation completely abolishes the consensus donor site of exon 5 as confirmed by RTPCR, which showed complete skipping of exon 5 resulting in a frameshift and introduction of a premature stop codon (p.Lys79Valfs*4),

PMID: 28005958 - de Castro-Miró et al 2016 - A cohort of 33 pedigrees affected with a variety of retinal disorders was analysed by WES. 1 case with compound heterozygosity (one missense and one splicing altering mutations) in SCLT1 that segregates with the condition in the family (2 affected siblings). Proposed to be causative of early-onset Retinitis Pigmentosa. SCLT1 is a member of the centrosomal/ciliary protein family.

PMID: 28486600 - Li et al 2017 - report a mouse model with mutated Sclt1 gene. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly.

PMID: 30425282 - Katagiri et al 2018 - a patient with Senior Løken syndrome and her unaffected parents revealed that the patient had infantile-onset retinal dystrophy and juvenile-onset nephronophthisis. Other systemic abnormalities included hepatic dysfunction, megacystis, mild learning disability, autism, obesity, and hyperinsulinemia. Whole-exome sequencing identified compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) in the patient. The unaffected parents were heterozygous for each variant. Transcript analysis using reverse transcription PCR demonstrated that the c.1218 + 3insT variant leads to exon 14 skipping (p.V383_M406del), while the other variant (c.1631A > G) primarily leads to exon 17 skipping (p.D480EfsX11) as well as minor amounts of two transcripts. Immunohistochemical analysis demonstrated that the Sclt1 protein was localized to the distal appendage of the photoreceptor basal body, indicating a ciliary protein.

= 3 cases plus a mouse model and functional evidence that the protein is a ciliary protein.
Sources: Literature
Fetal anomalies v1.195 TCTEX1D2 Arina Puzriakova Phenotypes for gene: TCTEX1D2 were changed from Short-rib thoracic dysplasia 17 with or without polydactyly to Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
Fetal anomalies v1.194 SDR9C7 Rhiannon Mellis gene: SDR9C7 was added
gene: SDR9C7 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13
Review for gene: SDR9C7 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.194 TCTEX1D2 Arina Puzriakova Classified gene: TCTEX1D2 as Amber List (moderate evidence)
Fetal anomalies v1.194 TCTEX1D2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.194 TCTEX1D2 Arina Puzriakova Gene: tctex1d2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.193 SEC24D Rhiannon Mellis reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25683121; Phenotypes: Cole-Carpenter syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.193 TCTEX1D2 Arina Puzriakova Tag for-review tag was added to gene: TCTEX1D2.
Fetal anomalies v1.193 SERPINF1 Rhiannon Mellis gene: SERPINF1 was added
gene: SERPINF1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI
Review for gene: SERPINF1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.193 SERPINH1 Rhiannon Mellis gene: SERPINH1 was added
gene: SERPINH1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta, type X
Review for gene: SERPINH1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.193 SGCG Rhiannon Mellis gene: SGCG was added
gene: SGCG was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, autosomal recessive 5
Review for gene: SGCG was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.193 SULT2B1 Arina Puzriakova Publications for gene: SULT2B1 were set to
Fetal anomalies v1.192 SHANK3 Rhiannon Mellis reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PHELAN-MCDERMID SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.192 SIX6 Rhiannon Mellis gene: SIX6 was added
gene: SIX6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SIX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIX6 were set to Optic disc anomalies with retinal and/or macular dystrophy
Review for gene: SIX6 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Anophthalmia and microphthalmia
Sources: Literature
Fetal anomalies v1.192 SLC18A3 Rhiannon Mellis gene: SLC18A3 was added
gene: SLC18A3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A3 were set to PMID: 31059209
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic
Review for gene: SLC18A3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Neuromuscular disorders
Sources: Literature
Fetal anomalies v1.192 SULT2B1 Arina Puzriakova Phenotypes for gene: SULT2B1 were changed from Ichthyosis, congenital, autosomal recessive 14 to Ichthyosis, congenital, autosomal recessive 14, OMIM:617571; Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091
Fetal anomalies v1.191 SULT2B1 Arina Puzriakova Classified gene: SULT2B1 as Amber List (moderate evidence)
Fetal anomalies v1.191 SULT2B1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.191 SULT2B1 Arina Puzriakova Gene: sult2b1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.190 SULT2B1 Arina Puzriakova Tag for-review tag was added to gene: SULT2B1.
Fetal anomalies v1.190 SLC25A19 Rhiannon Mellis reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, Amish type, 607196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.190 ADAMTS3 Arina Puzriakova Publications for gene: ADAMTS3 were set to
Fetal anomalies v1.189 SLC29A3 Rhiannon Mellis gene: SLC29A3 was added
gene: SLC29A3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome
Review for gene: SLC29A3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Skeletal dysplasia
Sources: Literature
Fetal anomalies v1.189 SLC5A7 Rhiannon Mellis reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27569547, 31299140; Phenotypes: Myasthenic syndrome, congenital, 20, presynaptic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.189 ADAMTS3 Arina Puzriakova Phenotypes for gene: ADAMTS3 were changed from Hennekam lymphangiectasia-lymphedema syndrome 3 to Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154; Hennekam lymphangiectasia-lymphedema syndrome 3, MONDO:0032564
Fetal anomalies v1.188 ADAMTS3 Arina Puzriakova Tag for-review tag was added to gene: ADAMTS3.
Fetal anomalies v1.188 ADAMTS3 Arina Puzriakova Classified gene: ADAMTS3 as Amber List (moderate evidence)
Fetal anomalies v1.188 ADAMTS3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.188 ADAMTS3 Arina Puzriakova Gene: adamts3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.187 SMPD4 Rhiannon Mellis gene: SMPD4 was added
gene: SMPD4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD4 were set to PMID: 31495489
Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Review for gene: SMPD4 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Arthrogryposis; Cerebellar hypoplasia

Additional comment: Documented fetal phenotype with IUGR, microcephaly, arthrogryposis, and structural brain anomalies in some. (32 reported cases from 12 families) PMID: 31495489
Sources: Literature
Fetal anomalies v1.187 SMS Rhiannon Mellis reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SNYDER-ROBINSON SYNDROME; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.187 SNX10 Rhiannon Mellis gene: SNX10 was added
gene: SNX10 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8
Review for gene: SNX10 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Hydrocephalus; Osteopetrosis; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.187 SOX18 Rhiannon Mellis gene: SOX18 was added
gene: SOX18 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome
Review for gene: SOX18 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Primary lymphoedema
Sources: Literature, Expert list
Fetal anomalies v1.187 SOX6 Rhiannon Mellis gene: SOX6 was added
gene: SOX6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX6 were set to Tolchin-Le Caignec syndrome
Review for gene: SOX6 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Craniosynostosis
Sources: Literature
Fetal anomalies v1.187 SP7 Rhiannon Mellis gene: SP7 was added
gene: SP7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII
Review for gene: SP7 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Literature
Fetal anomalies v1.187 SPARC Rhiannon Mellis reviewed gene: SPARC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XVII; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.187 SPECC1L Rhiannon Mellis reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Facial clefting, oblique, 1, Hypertelorism, Teebi type, Opitz GBBB syndrome, type II; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.187 ST14 Rhiannon Mellis reviewed gene: ST14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.187 STAC3 Rhiannon Mellis gene: STAC3 was added
gene: STAC3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAC3 were set to PMID: 30168660
Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch
Review for gene: STAC3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Additional comment: Documented arthrogryposis, also cleft palate, polyhydramnios and reduced fetal movements. PMID: 30168660
Sources: Literature
Fetal anomalies v1.187 STIL Rhiannon Mellis reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 29230157; Phenotypes: Microcephaly 7, primary, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.187 STRADA Rhiannon Mellis gene: STRADA was added
gene: STRADA was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy
Review for gene: STRADA was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Hydrocephalus). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.187 SUFU Rhiannon Mellis reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: None; Publications: 33024317, 21289193; Phenotypes: Joubert syndrome 32; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v1.187 ERCC5 Arina Puzriakova Publications for gene: ERCC5 were set to
Fetal anomalies v1.186 ERCC5 Arina Puzriakova Phenotypes for gene: ERCC5 were changed from XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G to Cerebrooculofacioskeletal syndrome 3, OMIM:616570; Cerebrooculofacioskeletal syndrome 3, MONDO:0014696
Fetal anomalies v1.185 SULT2B1 Rhiannon Mellis gene: SULT2B1 was added
gene: SULT2B1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14
Review for gene: SULT2B1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Autosomal recessive congenital ichthyosis). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TBC1D32 Rhiannon Mellis gene: TBC1D32 was added
gene: TBC1D32 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to PMID: 32573025; 31130284; 32060556
Phenotypes for gene: TBC1D32 were set to OFD IX
Review for gene: TBC1D32 was set to GREEN
Added comment: Now 5 families reported:

The same group who reported the first individual with a ciliopathy phenotype (Adly et al 2014) now report two further unrelated fetal cases (Alsahan 2020, Monies et al 2019) with OFD/ciliopathy phenotype:

- One had polyhydramnios, hydrocephaly with enlarged biparietal diameter and dilated lateral ventricles, single nostril, anophthalmia, short long bones and echogenic lungs
- The other had holoprosencephaly, cyclops, cleft lip, ventricular septal defect, agenesis of corpus callosum, and club feet

- There are also two sib pairs (one Finnish, one Pakistani) reported by Hietamaki et al 2020 with TBC1D32 variants and a variable phenotype of pituitary hypoplasia +/- other midline defects, hydrocephalus, short limbs, polydactyly
Sources: Literature
Fetal anomalies v1.185 TCTEX1D2 Rhiannon Mellis gene: TCTEX1D2 was added
gene: TCTEX1D2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly
Review for gene: TCTEX1D2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TELO2 Rhiannon Mellis reviewed gene: TELO2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: You-Hoover-Fong syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 TENM3 Rhiannon Mellis gene: TENM3 was added
gene: TENM3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15; ?Microphthalmia, isolated, with coloboma 9
Review for gene: TENM3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Anophthalmia and microphthalmia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TMEM38B Rhiannon Mellis gene: TMEM38B was added
gene: TMEM38B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV
Review for gene: TMEM38B was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Osteogenesis imperfecta; Skeletal dysplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TMEM98 Rhiannon Mellis gene: TMEM98 was added
gene: TMEM98 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMEM98 were set to Nanophthalmos 4
Review for gene: TMEM98 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Anophthalmia and microphthalmia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TMX2 Rhiannon Mellis gene: TMX2 was added
gene: TMX2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Review for gene: TMX2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cerebral malformations; Malformations of cortical development; Severe microcephaly). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TNNT3 Rhiannon Mellis gene: TNNT3 was added
gene: TNNT3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNNT3 were set to 32779773
Phenotypes for gene: TNNT3 were set to Arthrogryposis, distal, type 2B2
Mode of pathogenicity for gene: TNNT3 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: TNNT3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Additional comment: Clearly documented phenotype of distal arthrogryposis. Also, recent paper in Prenatal Diagnosis reporting a het pathogenic variant in TNNT3 in a fetus with FADS; that variant has previously only been described in a family with much milder distal arthrogryposis phenotype. PMID: 32779773

(copied from OMIM): In in vitro studies, Robinson et al. (2007) demonstrated that the TNNI2 R174Q (191043.0001) and R156X (191043.0002) mutations and the TNNT3 mutation R63H (600692.0001) resulted in a gain of function with increased ATPase activity in actin-activated myosin ATPase assays, reflecting increased calcium sensitivity and consistent with increased contractility. In patients, Robinson et al. (2007) concluded that the mutation would cause increased tension in developing muscles, thus resulting in contractures and limb deformities via an active process rather than a passive process. These findings implicated disturbed muscle function as the pathogenic mechanism underlying DA2B.
Sources: Literature
Fetal anomalies v1.185 TOE1 Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (cerebellar hypoplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Fetal anomalies v1.185 TOE1 Rhiannon Mellis reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 TOR1A Rhiannon Mellis gene: TOR1A was added
gene: TOR1A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1A were set to 30244176; 29053766; 28516161
Phenotypes for gene: TOR1A were set to Arthrogryposis multiplex congenita 5
Review for gene: TOR1A was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Additional comment: documented phenotype of severe arthrogryposis multiplex congenital with prenatal onset
Sources: Literature
Fetal anomalies v1.185 TRAF3IP1 Rhiannon Mellis gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9
Review for gene: TRAF3IP1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TRAIP Rhiannon Mellis reviewed gene: TRAIP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seckel syndrome 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 TRAP1 Rhiannon Mellis gene: TRAP1 was added
gene: TRAP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAP1 were set to CAKUT; VACTERL
Review for gene: TRAP1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TRMT10A Rhiannon Mellis gene: TRMT10A was added
gene: TRMT10A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1
Review for gene: TRMT10A was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Severe microcephaly). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TSEN2 Rhiannon Mellis reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 TSEN34 Rhiannon Mellis reviewed gene: TSEN34: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 TSFM Rhiannon Mellis gene: TSFM was added
gene: TSFM was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3
Review for gene: TSFM was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Neuromuscular disorders). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Additional comment: IUGR, decreased fetal movements, reduced brain gyri
Sources: Literature
Fetal anomalies v1.185 TUBB3 Rhiannon Mellis reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.185 TUBG1 Rhiannon Mellis reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.185 TUBGCP4 Rhiannon Mellis reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 TXNDC15 Rhiannon Mellis gene: TXNDC15 was added
gene: TXNDC15 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXNDC15 were set to Meckel Gruber syndrome
Review for gene: TXNDC15 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cystic renal disease (super panel); Limb disorders; Rare multisystem ciliopathy Super panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Comment from copied from skeletal ciliopathies panel:
Shaheen et al. 2016 (PMID:27894351) report TXNDC15 variants in two consanguineous Saudi families that share the features of Meckel-Gruber syndrome (a ciliopathy phenotype). Phenotypes of both patients included polydactyly; one patients was still born, and one survived till 11 hours old. Furthermore, through an international collaboration, they were able to identify an additional Meckel-Gruber syndrome patient (Pakistani origin) with a homozygous truncating variant in this gene. The patient also had polydactyly, although a sibling presented similarly but with no polydactyl. Patient fibroblasts had aberrant ciliogenesis.
Sources: Other
Sources: Literature
Fetal anomalies v1.185 UBE2T Rhiannon Mellis reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group T; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 USP9X Rhiannon Mellis reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MENTAL RETARDATION, X-LINKED 99, MRX99; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v1.185 VAMP1 Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Additional comment: Phenotype = congenital myasthenic syndrome. Reported patients present with severe hypotonia from birth, some have contractures, unclear if present at birth but decreased fetal movements reported so could present prenatally. PubMed: 28600779, 28253535, 28168212

Sources: Literature
Fetal anomalies v1.185 VAMP1 Rhiannon Mellis gene: VAMP1 was added
gene: VAMP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25
Review for gene: VAMP1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 VEGFC Rhiannon Mellis gene: VEGFC was added
gene: VEGFC was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: VEGFC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VEGFC were set to Lymphatic malformation 4
Review for gene: VEGFC was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 VRK1 Rhiannon Mellis reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 1A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 WDR73 Rhiannon Mellis reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galloway-Mowat syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 WDR81 Rhiannon Mellis gene: WDR81 was added
gene: WDR81 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR81 were set to Hydrocephalus, congenital, 3, with brain anomalies
Review for gene: WDR81 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel (Cerebellar hypoplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 XYLT2 Rhiannon Mellis reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloocular syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.185 ZMYND10 Rhiannon Mellis reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 22; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.185 ZSWIM6 Rhiannon Mellis reviewed gene: ZSWIM6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acromelic frontonasal dysostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.185 AKT2 Rhiannon Mellis gene: AKT2 was added
gene: AKT2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT2 were set to Hypoinsulinemic hypoglycemia with hemihypertrophy
Review for gene: AKT2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel (BWS and Overgrowth panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 ADAMTS3 Rhiannon Mellis gene: ADAMTS3 was added
gene: ADAMTS3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3
Review for gene: ADAMTS3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 ABL1 Rhiannon Mellis reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart defects and skeletal malformations syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.185 NUAK2 Arina Puzriakova Tag watchlist tag was added to gene: NUAK2.
Fetal anomalies v1.185 NUAK2 Arina Puzriakova Publications for gene: NUAK2 were set to 32845958
Fetal anomalies v1.184 NUAK2 Arina Puzriakova Classified gene: NUAK2 as Amber List (moderate evidence)
Fetal anomalies v1.184 NUAK2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single consanguineous family with three consecutive fetuses with anencephaly. Exome sequencing revealed a recessive 21-bp in-frame deletion in NUAK2 segregating with the disease. Pathogenicity is supported by in vitro and animal model data.

Rating Amber, awaiting further cases/clinical evidence prior to inclusion as diagnostic-grade (added 'watchlist' tag)
Fetal anomalies v1.184 NUAK2 Arina Puzriakova Gene: nuak2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.183 AMBRA1 Arina Puzriakova Classified gene: AMBRA1 as Amber List (moderate evidence)
Fetal anomalies v1.183 AMBRA1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Sufficient unrelated cases and supportive functional data. However, only a single publication linking this gene to human disease at present (PMID:32333458). Segregation data was not provided and penetrance remains unclear. AMBRA1 was investigated by targeted sequencing and so there also is a possibility of variants in other genes.

Currently the evidence is insufficient for a Green rating, but this may be revised if further cases/clinical evidence arise (added 'watchlist' tag)
Fetal anomalies v1.183 AMBRA1 Arina Puzriakova Gene: ambra1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.182 AMBRA1 Arina Puzriakova Tag watchlist tag was added to gene: AMBRA1.
Fetal anomalies v1.182 AMBRA1 Arina Puzriakova reviewed gene: AMBRA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32333458, 17589504; Phenotypes: Neural tube defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.182 CALCRL Arina Puzriakova Phenotypes for gene: CALCRL were changed from Lymphatic malformation 8 (MIM# 618773); hydrops fetalis to Lymphatic malformation 8, OMIM:618773; Lymphatic malformation 8, MONDO:0032907; Hydrops fetalis
Fetal anomalies v1.181 CALCRL Arina Puzriakova Publications for gene: CALCRL were set to 30115739
Fetal anomalies v1.180 CALCRL Arina Puzriakova Classified gene: CALCRL as Red List (low evidence)
Fetal anomalies v1.180 CALCRL Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single family with recurrent hydrops fetalis (PMID:30115739), supported by in vitro and animal model data. Rating Red as additional cases required to corroborate this gene-disease association.
Fetal anomalies v1.180 CALCRL Arina Puzriakova Gene: calcrl has been classified as Red List (Low Evidence).
Fetal anomalies v1.179 SHROOM4 Arina Puzriakova Classified gene: SHROOM4 as Red List (low evidence)
Fetal anomalies v1.179 SHROOM4 Arina Puzriakova Added comment: Comment on list classification: New gene added by Suzanne Drury. Rating Red as currently only a single case with a fetally-relevant phenotype (PMID: 32565546). Additional unrelated cases required to support this gene-disease association.
Fetal anomalies v1.179 SHROOM4 Arina Puzriakova Gene: shroom4 has been classified as Red List (Low Evidence).
Fetal anomalies v1.178 SHROOM4 Arina Puzriakova Phenotypes for gene: SHROOM4 were changed from HP:0001274 to Stocco dos Santos X-linked mental retardation syndrome, 300434
Fetal anomalies v1.177 TMEM260 Arina Puzriakova Publications for gene: TMEM260 were set to
Fetal anomalies v1.176 TMEM260 Arina Puzriakova Phenotypes for gene: TMEM260 were changed from Neurodevelopmental, Cardiac, and Renal Syndrome to Structural heart defects and renal anomalies syndrome, OMIM:617478; Structural heart defects and renal anomalies syndrome, MONDO:0044321
Fetal anomalies v1.175 GREB1L Arina Puzriakova Publications for gene: GREB1L were set to 29261186; 29100091
Fetal anomalies v1.174 AGRN Arina Puzriakova Classified gene: AGRN as Red List (low evidence)
Fetal anomalies v1.174 AGRN Arina Puzriakova Added comment: Comment on list classification: Maintaining Red rating and currently only a single case (PMID: 31730230) has been reported with a relevant phenotype to this panel.
Fetal anomalies v1.174 AGRN Arina Puzriakova Gene: agrn has been classified as Red List (Low Evidence).
Fetal anomalies v1.173 AGRN Arina Puzriakova Phenotypes for gene: AGRN were changed from Myasthenia, limb-girdle, familial 615120 to Fetal akinesia deformation sequence (FADS)
Fetal anomalies v1.172 AGRN Arina Puzriakova Publications for gene: AGRN were set to
Fetal anomalies v1.171 NONO Arina Puzriakova Phenotypes for gene: NONO were changed from SYNDROMIC INTELLECTUAL DISABILITY to Left ventricular non-compaction cardiomyopathy (LVNC); Ventricular septal defect (VSD); Pulmonary stenosis; Atresia; Ebstein’s anomaly
Fetal anomalies v1.170 NONO Arina Puzriakova Classified gene: NONO as Amber List (moderate evidence)
Fetal anomalies v1.170 NONO Arina Puzriakova Added comment: Comment on list classification: Currently there is not enough evidence to promote this gene to Green. Additional cases with a fetally-relevant phenotype are required prior to inclusion at diagnostic-grade. Maintaining Amber rating on this panel.
Fetal anomalies v1.170 NONO Arina Puzriakova Gene: nono has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.169 NONO Arina Puzriakova reviewed gene: NONO: Rating: AMBER; Mode of pathogenicity: None; Publications: 32397791; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.169 NONO Arina Puzriakova Publications for gene: NONO were set to
Fetal anomalies v1.168 SNAP29 Arina Puzriakova Classified gene: SNAP29 as Amber List (moderate evidence)
Fetal anomalies v1.168 SNAP29 Arina Puzriakova Added comment: Comment on list classification: Maintaining Amber rating as currently there is not enough evidence to promote to Green. Phenotypes do not appear to be fetally-relevant and gestation is typically uneventful. However, symptoms do arise during the first year of life.
Fetal anomalies v1.168 SNAP29 Arina Puzriakova Gene: snap29 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.167 SNAP29 Arina Puzriakova Phenotypes for gene: SNAP29 were changed from CEDNIK SYNDROME to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290
Fetal anomalies v1.166 SNAP29 Arina Puzriakova Publications for gene: SNAP29 were set to
Fetal anomalies v1.165 NUP88 Arina Puzriakova Tag watchlist tag was added to gene: NUP88.
Fetal anomalies v1.165 NUP88 Arina Puzriakova Classified gene: NUP88 as Amber List (moderate evidence)
Fetal anomalies v1.165 NUP88 Arina Puzriakova Added comment: Comment on list classification: New gene added by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). Two unrelated families with lethal FADS and different biallelic variants in the NUP88 gene (PMID: 30543681). Zebrafish model recapitulated some human phenotypes such as locomotor and neuromuscular junction defects.

NUP88 is associated with a relevant phenotype in OMIM but is not currently in Gene2Phenotype. Fetally-relevant phenotype but additional cases required prior to inclusion as diagnostic-grade. Added 'watchlist' tag.
Fetal anomalies v1.165 NUP88 Arina Puzriakova Gene: nup88 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.164 NUP88 Arina Puzriakova Publications for gene: NUP88 were set to PMID: 30543681
Fetal anomalies v1.163 NUP88 Arina Puzriakova Phenotypes for gene: NUP88 were changed from fetal akinesia to Fetal akinesia deformation sequence 4, OMIM:618393; Fetal akinesia deformation sequence 4, MONDO:0100104
Fetal anomalies v1.162 TRAPPC12 Arina Puzriakova Classified gene: TRAPPC12 as Amber List (moderate evidence)
Fetal anomalies v1.162 TRAPPC12 Arina Puzriakova Added comment: Comment on list classification: Maintaining Amber rating as currently there are not enough unrelated cases with a fetally-relevant phenotype to promote to Green. Added 'watchlist' tag.
Fetal anomalies v1.162 TRAPPC12 Arina Puzriakova Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.161 TRAPPC12 Arina Puzriakova Publications for gene: TRAPPC12 were set to
Fetal anomalies v1.160 TRAPPC12 Arina Puzriakova Phenotypes for gene: TRAPPC12 were changed from Progressive Childhood Encephalopathy and Golgi Dysfunction to Hydrocephaly; Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696
Fetal anomalies v1.159 TRAPPC12 Arina Puzriakova Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.158 TRAPPC12 Arina Puzriakova commented on gene: TRAPPC12: Removed 'polygenic' tag as published cases revealed no evidence to indicate polygenic inheritance
Fetal anomalies v1.158 TRAPPC12 Arina Puzriakova Tag polygenic was removed from gene: TRAPPC12.
Tag watchlist tag was added to gene: TRAPPC12.
Fetal anomalies v1.158 TRAPPC12 Arina Puzriakova reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: None; Publications: 32347653, 28777934; Phenotypes: Hydrocephaly, Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.158 NEK9 Arina Puzriakova Classified gene: NEK9 as Amber List (moderate evidence)
Fetal anomalies v1.158 NEK9 Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag). At least 3 unrelated families presenting a similar fetally-relevant phenotype in association with different biallelic variants in this gene.

NEK9 is associated with relevant phenotypes in OMIM (MIM# 614262 and 617022) but currently is not in Gene2Phenotype.
Fetal anomalies v1.158 NEK9 Arina Puzriakova Gene: nek9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.157 NEK9 Arina Puzriakova Publications for gene: NEK9 were set to 26908619
Fetal anomalies v1.156 NEK9 Arina Puzriakova Tag for-review tag was added to gene: NEK9.
Fetal anomalies v1.156 NEK9 Arina Puzriakova Phenotypes for gene: NEK9 were changed from Lethal congenital contracture syndrome 10 617022 to ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262; Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660; Lethal congenital contracture syndrome 10, OMIM:617022; NEK9-related lethal skeletal dysplasia, MONDO:0014870
Fetal anomalies v1.155 MN1 Arina Puzriakova Tag for-review tag was added to gene: MN1.
Fetal anomalies v1.155 MN1 Arina Puzriakova Classified gene: MN1 as Amber List (moderate evidence)
Fetal anomalies v1.155 MN1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Multiple unrelated individuals (>20) described with a complex developmental disorder and de novo truncating MN1 variants. This gene will be flagged for review to determine whether the phenotype is fetally-relevant and there is enough evidence to include as Green.

Plausible that some features of the disorder, such as craniofacial abnormalities and structural brain anomalies may be detected prenatally. However based on published clinical descriptions, antenatal history was uneventful in most cases - but reports did include fetal brain anomalies (1), NICU admission (1) and IUGR (2). Similarly, neonatal problems were only reported in a few patients but included respiratory issues (3), abnormal ABR (1), congenital diaphragmatic hernia (1), perinatal hypoxia (1), congenital hypothyroidism (1), hearing impairment (1) and SCBU admission (1) (see Supplementary material in PMID: 31834374)
Fetal anomalies v1.155 MN1 Arina Puzriakova Gene: mn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.154 MN1 Arina Puzriakova Phenotypes for gene: MN1 were changed from CEBALID syndrome, 618774 to CEBALID syndrome, OMIM:618774; CEBALID syndrome, MONDO:0032908
Fetal anomalies v1.153 ATP1A2 Arina Puzriakova changed review comment from: Comment on list classification: There are now at least 4 unrelated families reported with a fetally-relevant phenotype and different homozygous truncating variants in the ATP1A2 gene (PMIDs: 30690204 and 316089320). Therefore this gene can now be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag); to: Comment on list classification: There are now at least 4 unrelated families reported with a fetally-relevant phenotype and different homozygous truncating variants in the ATP1A2 gene (PMIDs: 30690204 and 31608932). Therefore this gene can now be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.153 ATP1A2 Arina Puzriakova Classified gene: ATP1A2 as Amber List (moderate evidence)
Fetal anomalies v1.153 ATP1A2 Arina Puzriakova Added comment: Comment on list classification: There are now at least 4 unrelated families reported with a fetally-relevant phenotype and different homozygous truncating variants in the ATP1A2 gene (PMIDs: 30690204 and 316089320). Therefore this gene can now be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.153 ATP1A2 Arina Puzriakova Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.152 ATP1A2 Arina Puzriakova Publications for gene: ATP1A2 were set to 30690204
Fetal anomalies v1.151 ATP1A2 Arina Puzriakova Tag for-review tag was added to gene: ATP1A2.
Fetal anomalies v1.151 TMEM216 Arina Puzriakova changed review comment from: Comment on list classification: At least 3 variants reported in 6 families with Meckel syndrome, a fetally-relevant phenotype. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag).

TMEM216 is associated with Meckel and Joubert syndrome in OMIM and Gene2Phenotype.; to: Comment on list classification: At least 3 reported variants in 6 families with Meckel syndrome, a fetally-relevant phenotype. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag).

TMEM216 is associated with Meckel and Joubert syndrome in OMIM and Gene2Phenotype.
Fetal anomalies v1.151 TMEM216 Arina Puzriakova Publications for gene: TMEM216 were set to
Fetal anomalies v1.150 TMEM216 Arina Puzriakova Phenotypes for gene: TMEM216 were changed from JOUBERT SYNDROME 2 to Meckel syndrome 2, OMIM:603194; Meckel syndrome, type 2, MONDO:0011296
Fetal anomalies v1.149 TMEM216 Arina Puzriakova Classified gene: TMEM216 as Amber List (moderate evidence)
Fetal anomalies v1.149 TMEM216 Arina Puzriakova Added comment: Comment on list classification: At least 3 variants reported in 6 families with Meckel syndrome, a fetally-relevant phenotype. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag).

TMEM216 is associated with Meckel and Joubert syndrome in OMIM and Gene2Phenotype.
Fetal anomalies v1.149 TMEM216 Arina Puzriakova Gene: tmem216 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.148 TMEM216 Arina Puzriakova Tag for-review tag was added to gene: TMEM216.
Fetal anomalies v1.148 TMEM107 Arina Puzriakova Publications for gene: TMEM107 were set to 26123494; 26518474; 26595381
Fetal anomalies v1.147 TMEM107 Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381).

Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel is relevant to OFD case, which would be necessary to reach the threshold for inclusion of TMEM107 as Green.

Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag); to: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474 and 26595381), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381).

Phenotype is fetally-relevant in the two unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect), as well as the OFD syndrome cases.

Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.147 TMEM107 Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381).

Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel would be applicable in OFD case which would be necessary to reach the threshold for inclusion of TMEM107 as Green.

Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag); to: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381).

Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel is relevant to OFD case, which would be necessary to reach the threshold for inclusion of TMEM107 as Green.

Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag)
Fetal anomalies v1.147 TMEM107 Arina Puzriakova Tag for-review tag was added to gene: TMEM107.
Fetal anomalies v1.147 TMEM107 Arina Puzriakova Classified gene: TMEM107 as Amber List (moderate evidence)
Fetal anomalies v1.147 TMEM107 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381).

Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel would be applicable in OFD case which would be necessary to reach the threshold for inclusion of TMEM107 as Green.

Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag)
Fetal anomalies v1.147 TMEM107 Arina Puzriakova Gene: tmem107 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.146 TMEM107 Arina Puzriakova Publications for gene: TMEM107 were set to PMID: 26123494; 26518474; 26595381
Fetal anomalies v1.145 TMEM107 Arina Puzriakova Phenotypes for gene: TMEM107 were changed from ?Joubert syndrome 29; Meckel syndrome 13; Orofaciodigital syndrome XVI to Joubert syndrome 29, OMIM:617562; Meckel syndrome 13, OMIM:617562; Meckel syndrome 13, MONDO:0033044; Orofaciodigital syndrome XVI, OMIM:617563; Orofaciodigital syndrome 16, MONDO:0033045
Fetal anomalies v1.144 KIF14 Arina Puzriakova Publications for gene: KIF14 were set to PMID: 24128419; 30388224; 28892560; 29343805
Fetal anomalies v1.143 KIF14 Arina Puzriakova Classified gene: KIF14 as Amber List (moderate evidence)
Fetal anomalies v1.143 KIF14 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM and Gene2Phenotype. At least 13 unrelated families reported with most cases being of fetal relevance. Phenotypes within the spectrum of fetal forms of ciliopathies (MKS) as well as severe primary microcephaly. Also supportive zebrafish model.

Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.143 KIF14 Arina Puzriakova Gene: kif14 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.142 KIF14 Arina Puzriakova Tag for-review tag was added to gene: KIF14.
Fetal anomalies v1.142 KIF14 Arina Puzriakova Phenotypes for gene: KIF14 were changed from ?Meckel syndrome 12; Microcephaly 20, primary to Microcephaly 20, primary, autosomal recessive, OMIM:617914; Microcephaly 20, primary, autosomal recessive, MONDO:0054761; Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Fetal anomalies v1.141 B9D1 Arina Puzriakova Publications for gene: B9D1 were set to
Fetal anomalies v1.140 B9D1 Arina Puzriakova Phenotypes for gene: B9D1 were changed from MECKEL SYNDROME 9 to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
Fetal anomalies v1.139 B9D1 Arina Puzriakova commented on gene: B9D1
Fetal anomalies v1.139 B9D2 Arina Puzriakova Tag for-review tag was added to gene: B9D2.
Fetal anomalies v1.139 B9D2 Arina Puzriakova Phenotypes for gene: B9D2 were changed from Joubert syndrome; Meckel syndrome to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609
Fetal anomalies v1.138 B9D2 Arina Puzriakova Publications for gene: B9D2 were set to PMID: 21763481; 26092869
Fetal anomalies v1.137 B9D2 Arina Puzriakova Classified gene: B9D2 as Amber List (moderate evidence)
Fetal anomalies v1.137 B9D2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants reported in at least four unrelated cases (2 with Joubert syndrome, PMID: 26092869; and 2 with MKS, PMIDs: 21763481 and 31411728)

Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) as sufficient number of unrelated cases with fetally-relevant phenotype due to variants in the B9D2 gene.
Fetal anomalies v1.137 B9D2 Arina Puzriakova Gene: b9d2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.136 TUBB2A Arina Puzriakova Phenotypes for gene: TUBB2A were changed from CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
Fetal anomalies v1.135 AKT1 Eleanor Williams Publications for gene: AKT1 were set to
Fetal anomalies v1.134 AKT1 Eleanor Williams reviewed gene: AKT1: Rating: ; Mode of pathogenicity: None; Publications: 33030203; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.134 AP4E1 Arina Puzriakova Phenotypes for gene: AP4E1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401
Fetal anomalies v1.133 AP4B1 Arina Puzriakova Phenotypes for gene: AP4B1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551
Fetal anomalies v1.132 TBCD Arina Puzriakova Phenotypes for gene: TBCD were changed from Early-Onset Neurodegenerative Encephalopathy to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646
Fetal anomalies v1.131 TRIP4 Arina Puzriakova Publications for gene: TRIP4 were set to
Fetal anomalies v1.130 TRIP4 Arina Puzriakova Phenotypes for gene: TRIP4 were changed from Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures to Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896
Fetal anomalies v1.129 SMC1A Arina Puzriakova Phenotypes for gene: SMC1A were changed from CORNELIA DE LANGE SYNDROME TYPE 2; EPILEPTIC ENCEPHALOPATHY to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044; Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
Fetal anomalies v1.128 KCNJ2 Arina Puzriakova Phenotypes for gene: KCNJ2 were changed from Andersen syndrome 170390 to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222
Fetal anomalies v1.127 MPI Arina Puzriakova Phenotypes for gene: MPI were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257
Fetal anomalies v1.126 HSPG2 Arina Puzriakova Phenotypes for gene: HSPG2 were changed from DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE; SCHWARTZ-JAMPEL SYNDROME to Schwartz-Jampel syndrome, type 1, OMIM:255800; Schwartz-Jampel syndrome, MONDO:0009717; Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410; Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140
Fetal anomalies v1.125 AASS Arina Puzriakova Phenotypes for gene: AASS were changed from HYPERLYSINEMIAHyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388 to Hyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388
Fetal anomalies v1.124 AASS Arina Puzriakova Phenotypes for gene: AASS were changed from HYPERLYSINEMIA to HYPERLYSINEMIAHyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388
Fetal anomalies v1.123 AARS Arina Puzriakova Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593
Fetal anomalies v1.122 AAAS Arina Puzriakova Phenotypes for gene: AAAS were changed from ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279
Fetal anomalies v1.121 GDF6 Zornitza Stark reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32737436; Phenotypes: Syndromic CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.121 MYL9 Zornitza Stark reviewed gene: MYL9: Rating: AMBER; Mode of pathogenicity: None; Publications: 29453416, 33031641; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.121 SOX3 Arina Puzriakova Phenotypes for gene: SOX3 were changed from SEX REVERSAL TYPE 3; MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712
Fetal anomalies v1.120 ALDH7A1 Eleanor Williams reviewed gene: ALDH7A1: Rating: ; Mode of pathogenicity: None; Publications: 32969477; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.120 FKBP8 Eleanor Williams Classified gene: FKBP8 as Amber List (moderate evidence)
Fetal anomalies v1.120 FKBP8 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. 5 cases reported with plausible disease causing variants but only the FKBP8 gene looked at.
Fetal anomalies v1.120 FKBP8 Eleanor Williams Gene: fkbp8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.119 FKBP8 Eleanor Williams gene: FKBP8 was added
gene: FKBP8 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FKBP8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FKBP8 were set to 32969478
Phenotypes for gene: FKBP8 were set to spina bifida HP:0002414
Review for gene: FKBP8 was set to AMBER
Added comment: Not associated with a phenotype in OMIM.

PMID: 32969478 - Tian et al 2020 - performed Sanger sequencing of FKBP8 on DNA samples from 472 spina bifida (SB) affected fetuses and 565 unaffected controls. 5 different rare heterozygous variants (MAF ≤ 0.001) were identified among the SB patients, while no deleterious rare variants were identified in the controls. 4 of the variants are missense, the other is a stop-gain. 2 cases were in white-Hispanic patients while the other 3 were non-white Hispanic. Functional studies showed that p.Glu140* affected FKBP8 localization to the mitochondria and impaired its interaction with BCL2 ultimately leading to an increase in cellular apoptosis. p.Ser3Leu, p.Lys315Asn and p.Ala292Ser variants decreased FKBP8 protein level. Gene expression was studied in mouse Fkbp8-/- embryos and found to be abnormal. Previous mouse models have shown neural tube defects.

Sufficient cases to rate green, but only the FKBP8 gene looked at so perhaps some caution required while further evidence is gathered.
Sources: Literature
Fetal anomalies v1.118 SCN1A Arina Puzriakova Phenotypes for gene: SCN1A were changed from SCN1A-RELATED SEIZURE DISORDERS to Dravet syndrome, OMIM:607208; Arthrogryposis multiplex congenita
Fetal anomalies v1.117 SCN1A Arina Puzriakova Publications for gene: SCN1A were set to
Fetal anomalies v1.116 SCN1A Arina Puzriakova Classified gene: SCN1A as Red List (low evidence)
Fetal anomalies v1.116 SCN1A Arina Puzriakova Added comment: Comment on list classification: Although it is anticipated that following birth early-onset seizures will likely represent the predominant characteristic of the phenotype, arthrogryposis multiplex congenita may be detected in utero as demonstrated with the cases in PMID:32928894. Therefore, this gene will be flagged for review at the next GMS panel update to assess whether this is sufficient for inclusion on this panel (added 'for-review' tag).
Fetal anomalies v1.116 SCN1A Arina Puzriakova Gene: scn1a has been classified as Red List (Low Evidence).
Fetal anomalies v1.115 SCN1A Arina Puzriakova Tag for-review tag was added to gene: SCN1A.
Fetal anomalies v1.115 SCN1A Arina Puzriakova reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32928894, 29543227; Phenotypes: Dravet syndrome, OMIM:607208, Arthrogryposis multiplex congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.115 MN1 Rhiannon Mellis gene: MN1 was added
gene: MN1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MN1 were set to 31834374; 31839203; 15870292
Phenotypes for gene: MN1 were set to CEBALID syndrome, 618774
Mode of pathogenicity for gene: MN1 was set to Other
Review for gene: MN1 was set to GREEN
Added comment: Copied from MN1 review on Cortical malformations panel:

Associated with phenotype in OMIM, and a probable gene for MN1 C-terminal truncation syndrome in G2P.

Over 20 unrelated probands reported with heterozygous MN1 truncating variants, associated with a distinct phenotype which includes DD, craniofacial abnormalities, hearing loss, and structural abnormalities in the brain (e.g. polymicrogyria, dysmorphic corpus callosum and anomalies of the cerebellum - rhombencephalosynapsis).

Most variants cluster in the C-terminal, and all were predicted to escape NMD. Authors postulated that the resulting truncated protein may have a dominant-negative or gain-of-function effect. Also phenotypically supportive knockout mouse model.
Sources: Literature
Fetal anomalies v1.115 DDC Arina Puzriakova Phenotypes for gene: DDC were changed from AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Fetal anomalies v1.114 COX6B1 Arina Puzriakova Publications for gene: COX6B1 were set to
Fetal anomalies v1.113 COX6B1 Arina Puzriakova Phenotypes for gene: COX6B1 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Fetal anomalies v1.112 SCO1 Arina Puzriakova Phenotypes for gene: SCO1 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Fetal anomalies v1.111 MAPRE2 Arina Puzriakova Phenotypes for gene: MAPRE2 were changed from Circumferential Skin Creases Kunze Type to Symmetric circumferential skin creases, congenital, 2, 616734
Fetal anomalies v1.110 MAPRE2 Arina Puzriakova Publications for gene: MAPRE2 were set to
Fetal anomalies v1.109 MAPRE2 Arina Puzriakova Mode of inheritance for gene: MAPRE2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.108 ASXL3 Arina Puzriakova commented on gene: ASXL3
Fetal anomalies v1.108 GFRA1 Zornitza Stark gene: GFRA1 was added
gene: GFRA1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFRA1 were set to 33020172
Phenotypes for gene: GFRA1 were set to Renal agenesis
Review for gene: GFRA1 was set to AMBER
Added comment: Two unrelated families reported with bi-allelic LOF variants identified in individuals with bilateral renal agenesis. GFRA1 gene encodes a receptor on the Wolffian duct that regulates ureteric bud outgrowth in the development of a functional renal system. Also relevant to the CAKUT panel.
Sources: Literature
Fetal anomalies v1.108 TRAPPC12 Rhiannon Mellis reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32347653; Phenotypes: Hydrocephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.108 MFSD2A Arina Puzriakova Phenotypes for gene: MFSD2A were changed from MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486
Fetal anomalies v1.107 NEK9 Rhiannon Mellis edited their review of gene: NEK9: Added comment: Deden et al (2020) report a further family with two consecutive prenatal presentations with compound heterozygous NEK9 variants. Both fetuses had arthrogryposis.

Both variants were reported as VUS when detected in the first fetus, which initially presented with 'short long bones, bowed femur, micrognathia, talipes and deviated hand' but re-evaluated after the phenotype progressed to arthrogryposis and then the next pregnancy showed the same ultrasound abnormalities and the same compound het variants. At this point the authors felt this represented a conclusive diagnosis.; Changed rating: GREEN; Changed publications: PMID: 26908619, 26633546, 32333414; Changed phenotypes: Arthrogryposis, short long bones
Fetal anomalies v1.107 TMEM94 Arina Puzriakova Deleted their review
Fetal anomalies v1.107 TMEM94 Arina Puzriakova Deleted their comment
Fetal anomalies v1.107 TMEM94 Arina Puzriakova Tag for-review was removed from gene: TMEM94.
Fetal anomalies v1.107 TMEM94 Arina Puzriakova Classified gene: TMEM94 as Green List (high evidence)
Fetal anomalies v1.107 TMEM94 Arina Puzriakova Gene: tmem94 has been classified as Green List (High Evidence).
Fetal anomalies v1.106 TMEM94 Arina Puzriakova Classified gene: TMEM94 as Amber List (moderate evidence)
Fetal anomalies v1.106 TMEM94 Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.106 TMEM94 Arina Puzriakova Gene: tmem94 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.105 TMEM94 Arina Puzriakova Tag for-review tag was added to gene: TMEM94.
Fetal anomalies v1.105 CEP104 Arina Puzriakova Phenotypes for gene: CEP104 were changed from JOUBERT SYNDROME to Joubert syndrome 25, 616781
Fetal anomalies v1.104 USP18 Arina Puzriakova Classified gene: USP18 as Amber List (moderate evidence)
Fetal anomalies v1.104 USP18 Arina Puzriakova Added comment: Comment on list classification: With addition of the recently reported case (PMID:31940699) there is now a total of three families with pseudo-TORCH syndrome due to biallelic variants in USP18 (two carrying the same founder variant).

A rating upgrade from Amber to Green should be considered and therefore this gene will be flagged for review at the date of next GMS panel update (added 'for-review' tag).
Fetal anomalies v1.104 USP18 Arina Puzriakova Gene: usp18 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.103 USP18 Arina Puzriakova commented on gene: USP18: Added 'treatable' tag as clinical remission was achieved in a patient following rapid genetic diagnosis and subsequent treatment with the JAK inhibitor ruxolitinib
Fetal anomalies v1.103 USP18 Arina Puzriakova reviewed gene: USP18: Rating: ; Mode of pathogenicity: None; Publications: 31940699; Phenotypes: Pseudo-TORCH syndrome 2, 617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.103 USP18 Arina Puzriakova Publications for gene: USP18 were set to
Fetal anomalies v1.102 USP18 Arina Puzriakova Phenotypes for gene: USP18 were changed from Severe pseudo-TORCH syndrome to Pseudo-TORCH syndrome 2, 617397
Fetal anomalies v1.101 USP18 Arina Puzriakova Tag treatable tag was added to gene: USP18.
Tag for-review tag was added to gene: USP18.
Fetal anomalies v1.101 TMEM260 Rhiannon Mellis reviewed gene: TMEM260: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28318500; Phenotypes: STructural heart defects, Renal anomalies, Agenesis of corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.101 CTNND1 Eleanor Williams Tag for-review tag was added to gene: CTNND1.
Fetal anomalies v1.101 CTNND1 Eleanor Williams Classified gene: CTNND1 as Amber List (moderate evidence)
Fetal anomalies v1.101 CTNND1 Eleanor Williams Added comment: Comment on list classification: Leaving amber for now, but this gene should be reviewed at the next GMS update.
Fetal anomalies v1.101 CTNND1 Eleanor Williams Gene: ctnnd1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.100 CTNND1 Eleanor Williams reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32196547; Phenotypes: Blepharocheilodontic syndrome 2, 617681, cardiovascular anomalies, developmental delay, choanal atresia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.100 TRPM7 Eleanor Williams Classified gene: TRPM7 as Amber List (moderate evidence)
Fetal anomalies v1.100 TRPM7 Eleanor Williams Added comment: Comment on list classification: Adding this gene as amber. This gene should be reviewed for relevance on phenotypic grounds
Fetal anomalies v1.100 TRPM7 Eleanor Williams Gene: trpm7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.99 TRPM7 Eleanor Williams reviewed gene: TRPM7: Rating: AMBER; Mode of pathogenicity: None; Publications: 32503408, 31423533; Phenotypes: Cardiac arrhythmia, stillbirth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.99 FOXC1 Eleanor Williams Publications for gene: FOXC1 were set to
Fetal anomalies v1.98 FOXC1 Eleanor Williams reviewed gene: FOXC1: Rating: ; Mode of pathogenicity: None; Publications: 32720677; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.98 NEK9 Rhiannon Mellis reviewed gene: NEK9: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26908619, 26633546; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.98 SMN1 Eleanor Williams Publications for gene: SMN1 were set to 11826188
Fetal anomalies v1.97 SMN1 Eleanor Williams reviewed gene: SMN1: Rating: ; Mode of pathogenicity: None; Publications: 32644125, 32644120; Phenotypes: Spinal muscular atrophy; Mode of inheritance: None
Fetal anomalies v1.97 NUAK2 Zornitza Stark gene: NUAK2 was added
gene: NUAK2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NUAK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUAK2 were set to 32845958
Phenotypes for gene: NUAK2 were set to Anencephaly
Review for gene: NUAK2 was set to AMBER
Added comment: Novel gene described in single consanguineous family with three FDIU and extensive anencephaly. Hom inframe del affecting functional kinase domain, parents confirmed carriers. Good functional data showing loss of enzyme function and mouse model with 40% anencephaly after knock-out.
Sources: Literature
Fetal anomalies v1.97 GREB1L Rhiannon Mellis reviewed gene: GREB1L: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31424080, 32378186; Phenotypes: Renal agenesis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.97 AGRN Rhiannon Mellis reviewed gene: AGRN: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31730230; Phenotypes: Fetal akinesia deformation sequence; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.97 ATP1A2 Rhiannon Mellis reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31608932; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.97 AHCY Arina Puzriakova Publications for gene: AHCY were set to 30121674; 20852937
Fetal anomalies v1.96 AHCY Arina Puzriakova Classified gene: AHCY as Amber List (moderate evidence)
Fetal anomalies v1.96 AHCY Arina Puzriakova Added comment: Comment on list classification: With addition of the recent publication (PMID:31957987) describing a patient with foetal hydrops, among other features, there is now sufficient evidence to rate this gene GREEN at the next major review.
Fetal anomalies v1.96 AHCY Arina Puzriakova Gene: ahcy has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.95 AHCY Arina Puzriakova Tag for-review tag was added to gene: AHCY.
Fetal anomalies v1.95 AHCY Arina Puzriakova reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: 31957987; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.95 ASXL3 Rhiannon Mellis reviewed gene: ASXL3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29316359; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.95 B9D2 Rhiannon Mellis gene: B9D2 was added
gene: B9D2 was added to Fetal anomalies. Sources: Literature,NHS GMS
Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D2 were set to PMID: 21763481; 26092869
Phenotypes for gene: B9D2 were set to Joubert syndrome; Meckel syndrome
Review for gene: B9D2 was set to GREEN
gene: B9D2 was marked as current diagnostic
Added comment: 2 fetuses with MKS in one consanguineous family with homozygous B9D2 pathogenic variants. Functional studies of the variant confirmed loss of function. (PMID: 21763481)
2 unrelated patients with Joubert syndrome with different compound het B9D2 variants. (PMID: 26092869)

NB: Currently Green in ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH.
Sources: Literature, NHS GMS
Fetal anomalies v1.95 B9D1 Rhiannon Mellis reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32622957, 24886560; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.95 TMEM107 Rhiannon Mellis gene: TMEM107 was added
gene: TMEM107 was added to Fetal anomalies. Sources: Literature,NHS GMS
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM107 were set to PMID: 26123494; 26518474; 26595381
Phenotypes for gene: TMEM107 were set to ?Joubert syndrome 29; Meckel syndrome 13; Orofaciodigital syndrome XVI
Review for gene: TMEM107 was set to GREEN
gene: TMEM107 was marked as current diagnostic
Added comment: 2 unrelated infants, born of consanguineous Saudi parents, with Meckel syndrome-13 (PMID: 26123494)
1 patient with oro-facio-digital syndrome, and a mouse model with ciliopathy phenotype (PMID: 26518474)
1 man with Jouberts syndrome and female twins (from an unrelated family) with orofaciodigital syndrome. Additional functional studies. (PMID: 26595381)

NB: Currently Green on rare multisystem/renal/neurological ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH
Sources: Literature, NHS GMS
Fetal anomalies v1.95 TMEM216 Rhiannon Mellis reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20036350, 20512146; Phenotypes: Joubert syndrome, Meckel syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.95 KIF14 Rhiannon Mellis gene: KIF14 was added
gene: KIF14 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF14 were set to PMID: 24128419; 30388224; 28892560; 29343805
Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12; Microcephaly 20, primary
Review for gene: KIF14 was set to GREEN
gene: KIF14 was marked as current diagnostic
Added comment: Two fetuses in one family with complex multiple congenital anomalies consistent with ciliopathy phenotype. (PMID: 24128419)
Four more families with fetuses with similar phenotype (microcephaly, brain malformations and renal agenesis or hypodysplasia). Also functional (zebrafish) studies. Authors conclude that LOF variants cause the above syndromic phenotype while hypomorphic variants cause microcephaly without kidney defects. (PMID: 30388224)

Four unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants (PMID: 28892560)
Four more unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants. Two sibs from one of the families were fetuses with severe microcephaly detected prenatally and leading to termination of pregnancy. (PMID: 29343805)
Sources: Literature
Fetal anomalies v1.95 SLC20A1 Zornitza Stark gene: SLC20A1 was added
gene: SLC20A1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC20A1 were set to 32850778; 27013921
Phenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC)
Review for gene: SLC20A1 was set to GREEN
gene: SLC20A1 was marked as current diagnostic
Added comment: Three individuals and animal model supporting role of this gene in urinary tract and urorectal development. We have included on our CAKUT panel.
Sources: Literature
Fetal anomalies v1.95 TRPM7 Zornitza Stark gene: TRPM7 was added
gene: TRPM7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM7 were set to 32503408; 31423533
Phenotypes for gene: TRPM7 were set to Cardiac arrhythmia, stillbirth
Review for gene: TRPM7 was set to AMBER
Added comment: I am not sure if genes linked to stillbirth belong on this panel. This gene encodes an ion channel expressed in the nervous and cardiac systems. It has previously been associated with ALS/dementia in the Guam population, but the variant in question, p.Thr1482Ile is present in >23,000 hets in gnomad, which is out of keeping for a rare Mendelian disorder. Note recent publication associating missense variants with cardiac arrhythmia and stillbirth, with some functional data provided to substantiate effect of variant on protein function but not necessarily establish gene-disease association.
Sources: Literature
Fetal anomalies v1.95 GDF2 Zornitza Stark gene: GDF2 was added
gene: GDF2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDF2 were set to 32618121
Phenotypes for gene: GDF2 were set to Lymphatic dysplasia; hydrothorax; hydrops
Review for gene: GDF2 was set to RED
Added comment: Single family reported, two affected individuals. New MOI.

Monoallelic variants in this gene are associated with HHT/PAH.
Sources: Literature
Fetal anomalies v1.95 TOGARAM1 Arina Puzriakova Classified gene: TOGARAM1 as Red List (low evidence)
Fetal anomalies v1.95 TOGARAM1 Arina Puzriakova Added comment: Comment on list classification: Single family. Additional cases required to corroborate pathogenicity.
Fetal anomalies v1.95 TOGARAM1 Arina Puzriakova Gene: togaram1 has been classified as Red List (Low Evidence).
Fetal anomalies v1.94 TOGARAM1 Arina Puzriakova gene: TOGARAM1 was added
gene: TOGARAM1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439
Phenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus
Added comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene.

Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding.
Sources: Literature
Fetal anomalies v1.93 Catherine Snow Panel version has been signed off
Fetal anomalies v1.91 SRY Eleanor Williams Mode of inheritance for gene: SRY was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.90 SRY Eleanor Williams Added comment: Comment on mode of inheritance: Reverting to X-LINKED MOI as OMIM has XLD and YL inheritance listed.
Fetal anomalies v1.90 SRY Eleanor Williams Mode of inheritance for gene: SRY was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v1.89 SRY Eleanor Williams Added comment: Comment on mode of inheritance: Changing mode of inheritance to "Other" has this gene is on the Y chromosome.
Fetal anomalies v1.89 SRY Eleanor Williams Mode of inheritance for gene: SRY was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to Other
Fetal anomalies v1.88 PSAT1 Sarah Leigh commented on gene: PSAT1: There is enough evidence for this gene to be rated GREEN at the next major review.
Fetal anomalies v1.88 PSAT1 Sarah Leigh Deleted their comment
Fetal anomalies v1.88 PSAT1 Sarah Leigh reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.88 PSAT1 Sarah Leigh Tag for-review tag was added to gene: PSAT1.
Fetal anomalies v1.88 POLE Sarah Leigh Tag for-review tag was added to gene: POLE.
Fetal anomalies v1.88 TUBA8 Catherine Snow Classified gene: TUBA8 as Green List (high evidence)
Fetal anomalies v1.88 TUBA8 Catherine Snow Added comment: Comment on list classification: Change from Amber to Green, as requested by NHSE for signed-off panel.
Fetal anomalies v1.88 TUBA8 Catherine Snow Gene: tuba8 has been classified as Green List (High Evidence).
Fetal anomalies v1.87 SMG9 Catherine Snow Tag for-review tag was added to gene: SMG9.
Fetal anomalies v1.87 SMG9 Catherine Snow Classified gene: SMG9 as Amber List (moderate evidence)
Fetal anomalies v1.87 SMG9 Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.87 SMG9 Catherine Snow Gene: smg9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.86 PSAT1 Catherine Snow Classified gene: PSAT1 as Amber List (moderate evidence)
Fetal anomalies v1.86 PSAT1 Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.86 PSAT1 Catherine Snow Gene: psat1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.85 POLE Catherine Snow Classified gene: POLE as Amber List (moderate evidence)
Fetal anomalies v1.85 POLE Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.85 POLE Catherine Snow Gene: pole has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.84 GREB1L Catherine Snow Classified gene: GREB1L as Amber List (moderate evidence)
Fetal anomalies v1.84 GREB1L Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.84 GREB1L Catherine Snow Gene: greb1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.83 EXOC3L2 Catherine Snow Tag for-review tag was added to gene: EXOC3L2.
Fetal anomalies v1.83 EXOC3L2 Catherine Snow Classified gene: EXOC3L2 as Amber List (moderate evidence)
Fetal anomalies v1.83 EXOC3L2 Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.83 EXOC3L2 Catherine Snow Gene: exoc3l2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.82 CEP55 Catherine Snow Tag for-review tag was added to gene: CEP55.
Fetal anomalies v1.82 CEP55 Catherine Snow Classified gene: CEP55 as Amber List (moderate evidence)
Fetal anomalies v1.82 CEP55 Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.82 CEP55 Catherine Snow Gene: cep55 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.81 ALG9 Catherine Snow Tag for-review tag was added to gene: ALG9.
Fetal anomalies v1.81 ALG9 Catherine Snow Classified gene: ALG9 as Amber List (moderate evidence)
Fetal anomalies v1.81 ALG9 Catherine Snow Added comment: Comment on list classification: Change from Green to Amber as requested by NHSE for sign-off panel
Fetal anomalies v1.81 ALG9 Catherine Snow Gene: alg9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.80 TMEM94 Catherine Snow Classified gene: TMEM94 as Green List (high evidence)
Fetal anomalies v1.80 TMEM94 Catherine Snow Added comment: Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital)
Fetal anomalies v1.80 TMEM94 Catherine Snow Gene: tmem94 has been classified as Green List (High Evidence).
Fetal anomalies v1.79 GDF1 Catherine Snow Classified gene: GDF1 as Green List (high evidence)
Fetal anomalies v1.79 GDF1 Catherine Snow Added comment: Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital)
Fetal anomalies v1.79 GDF1 Catherine Snow Gene: gdf1 has been classified as Green List (High Evidence).
Fetal anomalies v1.78 COL3A1 Catherine Snow Classified gene: COL3A1 as Green List (high evidence)
Fetal anomalies v1.78 COL3A1 Catherine Snow Added comment: Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital)
Fetal anomalies v1.78 COL3A1 Catherine Snow Gene: col3a1 has been classified as Green List (High Evidence).
Fetal anomalies v1.77 CFAP53 Catherine Snow Classified gene: CFAP53 as Green List (high evidence)
Fetal anomalies v1.77 CFAP53 Catherine Snow Added comment: Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital)
Fetal anomalies v1.77 CFAP53 Catherine Snow Gene: cfap53 has been classified as Green List (High Evidence).
Fetal anomalies v1.76 CEP120 Catherine Snow Classified gene: CEP120 as Green List (high evidence)
Fetal anomalies v1.76 CEP120 Catherine Snow Added comment: Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital)
Fetal anomalies v1.76 CEP120 Catherine Snow Gene: cep120 has been classified as Green List (High Evidence).
Fetal anomalies v1.75 ACVR2B Catherine Snow Classified gene: ACVR2B as Green List (high evidence)
Fetal anomalies v1.75 ACVR2B Catherine Snow Added comment: Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital)
Fetal anomalies v1.75 ACVR2B Catherine Snow Gene: acvr2b has been classified as Green List (High Evidence).
Fetal anomalies v1.74 CALCRL Zornitza Stark gene: CALCRL was added
gene: CALCRL was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CALCRL were set to 30115739
Phenotypes for gene: CALCRL were set to Lymphatic malformation 8 (MIM# 618773); hydrops fetalis
Review for gene: CALCRL was set to RED
Added comment: Single family reported with several affected pregnancies.
Sources: Literature
Fetal anomalies v1.74 AMBRA1 Zornitza Stark gene: AMBRA1 was added
gene: AMBRA1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: AMBRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMBRA1 were set to 17589504; 32333458
Phenotypes for gene: AMBRA1 were set to Neural tube defects
Review for gene: AMBRA1 was set to GREEN
gene: AMBRA1 was marked as current diagnostic
Added comment: 5 rare missense variants were identified in 6 cases from a neural tube defect cohort, and 4 (p.Thr80Met, p.Leu274Phe, p.Ser743Phe, and p.Met884Val) of them were functionally validated to affect autophagy regulation in vitro or zebrafish embryo development in vivo. There is also null mouse model with neural tube defects.
Sources: Literature
Fetal anomalies v1.74 OTX2 Eleanor Williams reviewed gene: OTX2: Rating: ; Mode of pathogenicity: None; Publications: 32277752; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.74 NONO Suzanne Drury reviewed gene: NONO: Rating: ; Mode of pathogenicity: None; Publications: 32397791; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.74 SNAP29 Rhiannon Mellis reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 15968592, 21073448, 28388629; Phenotypes: CEDNIK syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.74 CEP120 Rhiannon Mellis gene: CEP120 was added
gene: CEP120 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP120 were set to PMID: 2720821; 25361962
Phenotypes for gene: CEP120 were set to Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly
Review for gene: CEP120 was set to GREEN
Added comment: PMID: 27208211 identifies CEP120 variants in 6 unrelated families, segregating with disease within the families, including four children with milder Joubert phenotype and two fetuses with prenatal phenotypes of more severe ciliopathy.

PMID: 25361962 describes 4 unrelated infants, 3 male and 1 female, with short-rib thoracic dysplasia and polydactyly (SRTD).

CEP120 is rated Green on the following PanelApp panels: Thoracic dystrophies, Skeletal dysplasia, Skeletal ciliopathies, Rare multisystem ciliopathy disorders.
Sources: Literature
Fetal anomalies v1.74 SLC12A6 Sarah Leigh commented on gene: SLC12A6: For-review tag has been added as it maybe appropriate to change the MOI to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified.
Fetal anomalies v1.74 SLC12A6 Sarah Leigh commented on gene: SLC12A6
Fetal anomalies v1.74 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to
Fetal anomalies v1.73 SLC12A6 Sarah Leigh Tag for-review tag was added to gene: SLC12A6.
Fetal anomalies v1.73 ACVR2B Zornitza Stark reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal 613751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.73 TMEM94 Rhiannon Mellis gene: TMEM94 was added
gene: TMEM94 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to PMID: 30526868
Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies
Review for gene: TMEM94 was set to GREEN
Added comment: Literature reports 10 patients from 6 unrelated families, and a mouse model PMID: 30526868

Reviewed with Prof Lyn Chitty for fetally relevant phenotype (Yes - Congenital heart malformations including: Atrial septal defect; Ventricular septal defect; Pulmonary hypoplasia; Pulmonary atresia; Tetralogy of Fallot; Double outlet right ventricle
Sources: Literature, Expert Review
Fetal anomalies v1.73 GDF1 Rhiannon Mellis gene: GDF1 was added
gene: GDF1 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDF1 were set to PMID: 20413652; 28991257; 17924340
Phenotypes for gene: GDF1 were set to Congenital heart defects, multiple types; Right atrial isomerism (Ivemark)
Review for gene: GDF1 was set to GREEN
Added comment: Right atrial isomerism (AR): 5 sibs in one family PMID: 20413652; One unrelated individual with RAI, complex cardiac anomalies, abdominal heterotaxy and asplenia PMID: 28991257

Other varied CHD (including ToF, DORV, TGA) (AD): 8 unrelated individuals PMID 17924340

Reviewed for fetally relevant phenotype by Prof Lyn Chitty (Yes)

This gene appears on our local heterotaxy panel (NETRGL) and as Green on Panelapp Laterality disorders panel and Familial non-syndromic CHD panel.
Sources: Literature, Expert Review
Fetal anomalies v1.73 CFAP53 Rhiannon Mellis gene: CFAP53 was added
gene: CFAP53 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP53 were set to PMID: 22577226; PMID: 25504577; PMID: 26531781
Phenotypes for gene: CFAP53 were set to Heterotaxy, visceral, 6, autosomal recessive; Dextrocardia; Transposition of the great arteries; gut malrotation; midline liver; inverted spleen
Review for gene: CFAP53 was set to GREEN
Added comment: Literature reports 6 individuals from 4 families and a zebrafish model PMID: 22577226, PMID: 25504577, PMID: 26531781

Reviewed for fetally relevant phenotype by Prof Lyn Chitty (yes).

This gene appears on our local heterotaxy panel (NETRGL) and on the Panelapp laterality disorders and non-syndromic CHD panels (Green)
Sources: Literature, Expert Review
Fetal anomalies v1.73 ACVR2B Rhiannon Mellis gene: ACVR2B was added
gene: ACVR2B was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVR2B were set to PMID: 9916847; PMID: 9242489
Phenotypes for gene: ACVR2B were set to Heterotaxy; Dextrocardia; Double outlet right ventricle; Transposition of the great arteries; Gut malrotation; polysplenia; right-sided spleen; asplenia
Review for gene: ACVR2B was set to GREEN
Added comment: Reported in literature 3 unrelated cases PMID: 9916847 and a mouse model PMID: 9242489

Reviewed by Prof Lyn Chitty for fetally relevant phenotype (yes).

This gene is included in our local heterotaxy panel (NETRGL).
Sources: Expert Review, Literature
Fetal anomalies v1.73 COL3A1 Rhiannon Mellis gene: COL3A1 was added
gene: COL3A1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL3A1 were set to PMID: 28258187; 28742248; 25205403; 27168972; 24922459
Phenotypes for gene: COL3A1 were set to HP:0002126; HP:0001883; HP:0006496
Penetrance for gene: COL3A1 were set to Incomplete
Review for gene: COL3A1 was set to GREEN
Added comment: On OMIM COL3A1 has a polymicrogyria phenotype in the biallelic form, as well as talipes and other features (PMID: 28258187; PMID: 28742248; PMID: 25205403). No specifically prenatal reports of polymicrogyria in the literature but this feature would be detectable on fetal US and especially on fetal MRI.

A monoallelic COL3A1 variant has been reported in one case in a prenatal exome series (PMID: 27168972), causing EDS IV with a prenatal phenotype of forearm hypoplasia and phalangeal defects. PMID: 24922459 evidences that limb hypoplasia/limb reduction is observed in a small subset of EDS IV patients (5 unrelated cases), as well as talipes in a larger number, and occasionally facial clefts – all of which would be prenatally detectable features.
Sources: Literature
Fetal anomalies v1.73 ASXL3 Suzanne Drury commented on gene: ASXL3
Fetal anomalies v1.73 SHROOM4 Suzanne Drury gene: SHROOM4 was added
gene: SHROOM4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SHROOM4 were set to 32565546
Phenotypes for gene: SHROOM4 were set to HP:0001274
Review for gene: SHROOM4 was set to AMBER
Added comment: Reported in fetal case series of abnormal corpus callosum PMID:32565546. Case also had Blake's pouch cyst, Turner syndrome: mos46,X, psu idic(X)(p11.2)[19/45,X[6]
Sources: Literature
Fetal anomalies v1.73 PIGA Sarah Leigh Tag Skewed X-inactivation tag was added to gene: PIGA.
Fetal anomalies v1.73 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
Fetal anomalies v1.73 NUP88 Julia Baptista gene: NUP88 was added
gene: NUP88 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP88 were set to PMID: 30543681
Phenotypes for gene: NUP88 were set to fetal akinesia
Review for gene: NUP88 was set to RED
Added comment: Bonnin et al reported biallelic variants in two unrelated families.
A homozygous missense variant was identified in family A and the co-segregation data was supportive (tested 4 unaffected and 2 of the 4 affected fetuses). Compound heterozygous in-frame and nonsense variants were identified in the proband in family B (co-segregation studies in 2 unaffected sibs). The clinical features included fetal akinesia and arthrogryposis multiplex congenita. Polyhydramnios, muscle atrophy and dysmorphic features were also described.
Sources: Literature
Fetal anomalies v1.73 ITGA8 Rebecca Foulger Deleted their comment
Fetal anomalies v1.73 ITGA8 Rebecca Foulger Classified gene: ITGA8 as Amber List (moderate evidence)
Fetal anomalies v1.73 ITGA8 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting GLH review. Additional phenotypes were reported in the fetuses and sibling (who died perinatally) from PMID:24439109 (clubbed feet, facial dysmorphism, pulmonary hypoplasia, bilateral cryptorchidism) although renal agenesis is the primary phenotype and only 2 families from one paper.
Fetal anomalies v1.73 ITGA8 Rebecca Foulger Gene: itga8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.72 ITGA8 Rebecca Foulger changed review comment from: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the variant. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero.

The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period.; to: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the variant. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero.

The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period and presented with BRA and bilateral cryptorchidism.
Fetal anomalies v1.72 ITGA8 Rebecca Foulger Phenotypes for gene: ITGA8 were changed from RENAL HYPODYSPLASIA/APLASIA 1; Renal hypodysplasia/aplasia 1, 191830 to bilateral renal agenesis; anhydramnios; RENAL HYPODYSPLASIA/APLASIA 1; Renal hypodysplasia/aplasia 1, 191830
Fetal anomalies v1.71 ITGA8 Rebecca Foulger changed review comment from: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the varinat. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero.

The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period.; to: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the variant. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero.

The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period.
Fetal anomalies v1.71 ITGA8 Rebecca Foulger Classified gene: ITGA8 as Amber List (moderate evidence)
Fetal anomalies v1.71 ITGA8 Rebecca Foulger Added comment: Comment on list classification: Relevant phenotype (renal agenesis) but currently insufficient evidence (2 unrelated cases from PMID:24439109, and 'probable' rating in Gene2Phenotype) for diagnostic-grade rating.
Fetal anomalies v1.71 ITGA8 Rebecca Foulger Gene: itga8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.70 ITGA8 Rebecca Foulger Phenotypes for gene: ITGA8 were changed from RENAL HYPODYSPLASIA/APLASIA 1 to RENAL HYPODYSPLASIA/APLASIA 1; Renal hypodysplasia/aplasia 1, 191830
Fetal anomalies v1.70 ITGA8 Rebecca Foulger Publications for gene: ITGA8 were set to
Fetal anomalies v1.69 ITGA8 Rebecca Foulger commented on gene: ITGA8: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the varinat. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero.

The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period.
Fetal anomalies v1.69 REN Rebecca Foulger Publications for gene: REN were set to
Fetal anomalies v1.68 REN Rebecca Foulger commented on gene: REN: PMID:31736371. He et al., performed a study to identify the potentially pathogenic gene variants that contribute to the AR renal tubular dysgenesis (RTD) in an aborted fetus. WES was performed on the fetus and his parents. Compound heterozygous variants (c.963T>A, p.Y321X and c.492+1G>A splicing site mutation) were identified in the fetus, one inherited from each parent.
Fetal anomalies v1.68 ACTG2 Rebecca Foulger Publications for gene: ACTG2 were set to 25998219; 30712878
Fetal anomalies v1.67 GREB1L Rebecca Foulger commented on gene: GREB1L: Added 'for-review' tag: Gene has been added and assessed by Curation team but not yet reviewed by clinical team.
Fetal anomalies v1.67 GREB1L Rebecca Foulger Tag for-review tag was added to gene: GREB1L.
Fetal anomalies v1.67 GREB1L Rebecca Foulger Classified gene: GREB1L as Green List (high evidence)
Fetal anomalies v1.67 GREB1L Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following curation of PMID:29100091 which presents additional fetal cases of renal agenesis and GREB1L variants. Sufficient evidence for association of GREB1L with kidney agenesis, and phenotype can present fetally.
Fetal anomalies v1.67 GREB1L Rebecca Foulger Gene: greb1l has been classified as Green List (High Evidence).
Fetal anomalies v1.66 GREB1L Rebecca Foulger Publications for gene: GREB1L were set to 29261186
Fetal anomalies v1.65 GREB1L Rebecca Foulger commented on gene: GREB1L: PMID:29100091. Tomasi et al., 2017. WES or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L.
Fetal cases with bilateral kidney agenesis include p.Gln528Argfs*12 (also present in their alive brother with unilateral kidney agenesis) and splice variant c.4369−1G>C.
Fetal anomalies v1.65 GREB1L Rebecca Foulger Classified gene: GREB1L as Amber List (moderate evidence)
Fetal anomalies v1.65 GREB1L Rebecca Foulger Added comment: Comment on list classification: Added to panel and set rating to Amber. Not yet associated with a disorder in Gene2Phenotype, but 2 fetal cases presented in PMID:29261186. Renal agenesis phenotype is relevant to the panel. Therefore Amber awaiting further cases.
Fetal anomalies v1.65 GREB1L Rebecca Foulger Gene: greb1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.64 GREB1L Rebecca Foulger gene: GREB1L was added
gene: GREB1L was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GREB1L were set to 29261186
Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, 617805; renal agenesis
Added comment: Added to Fetal panel based on PMID:29261186 (Boissel et al., 2018) who performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies. In 2 cases presenting with renal agenesis, de novo variants in GREB1L were identified (p.A968V and p.S98X).
Sources: Literature
Fetal anomalies v1.63 ACTG2 Rebecca Foulger Mode of pathogenicity for gene: ACTG2 was changed from to Other
Fetal anomalies v1.62 ACTG2 Rebecca Foulger Phenotypes for gene: ACTG2 were changed from Visceral myopathy 155310 to Visceral myopathy 155310; Fetal Megacystis
Fetal anomalies v1.61 ACTG2 Rebecca Foulger Publications for gene: ACTG2 were set to
Fetal anomalies v1.60 ACE Rebecca Foulger commented on gene: ACE: PMID:30058238 (Bhowmik et al., 2018) report a 32-week old fetus with severe early onset oligohydramnios. A similarly affected sibling was reported from a previous pregnancy. Exome sequencing revealed a homozygous 3' splice-site variant in intron 17 of ACE gene, which confirmed AR renal tubular dysgenesis. It also facilitated prenatal diagnosis in a subsequent pregnancy.
Fetal anomalies v1.60 ACE Rebecca Foulger Publications for gene: ACE were set to
Fetal anomalies v1.59 GJB2 Rebecca Foulger commented on gene: GJB2: Note that GJB2 is no longer present on the DD panel of Gene2Phenotype. All GJB2 phenotypes (May 2020) are associated with the Gene2Phenotype skin panel. Red rating is still appropriate for this Fetal panel.
Fetal anomalies v1.59 SUZ12 Eleanor Williams Phenotypes for gene: SUZ12 were changed from Weaver-like overgrowth syndrome to Weaver-like overgrowth syndrome; Imagawa-Matsumoto syndrome #618786
Fetal anomalies v1.58 EXOC3L2 Rebecca Foulger Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation to Dandy-Walker malformation; Meckel-Gruber-like syndrome
Fetal anomalies v1.57 PSAT1 Rebecca Foulger Classified gene: PSAT1 as Green List (high evidence)
Fetal anomalies v1.57 PSAT1 Rebecca Foulger Added comment: Comment on list classification: Rated 'probable' for Neu-Laxova syndrome in Gene2Phenotype, but there are sufficient cases from the literature to support causation (6 families in PMID:25152457 and 1 Chinese family in PMID:31903955). Therefore updated rating from Amber to Green: Fetally-relevant phenotype and sufficient evidence.
Fetal anomalies v1.57 PSAT1 Rebecca Foulger Gene: psat1 has been classified as Green List (High Evidence).
Fetal anomalies v1.56 PSAT1 Rebecca Foulger Phenotypes for gene: PSAT1 were changed from NEU-LAXOVA SYNDROME; PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY to Neu-Laxova syndrome 2, 616038; NEU-LAXOVA SYNDROME; PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
Fetal anomalies v1.55 PSAT1 Rebecca Foulger Publications for gene: PSAT1 were set to
Fetal anomalies v1.54 PSAT1 Rebecca Foulger commented on gene: PSAT1: PMID:31903955 (Ni et al., 2019) report Chinese Neu-Laxova syndrome (NLS) patients from 2 families. Compound het PSAT1 variants R342W and Y70N were found in the proband from family 1. (PHGDH variants were identified in family 2).
Fetal anomalies v1.54 PSAT1 Rebecca Foulger commented on gene: PSAT1: PMID:25152457. Acuna-Hidalgo et al., 2014 report a rare AR disorder with severe malformations leading to prenatal or early postnatal lethality (Neu-Laxova syndrome). They identified variants in PHGDH, PSAT1 and PSPH in individuals with NLS, including 6 families with 3 different missense and frameshift PSAT1 variants which segregated with the disease.
Fetal anomalies v1.54 ATP1A2 Rebecca Foulger Classified gene: ATP1A2 as Amber List (moderate evidence)
Fetal anomalies v1.54 ATP1A2 Rebecca Foulger Added comment: Comment on list classification: Added to panel with Amber review by Zornitza Stark. Not yet associated with a disorder in Gene2Phenotype. 2 families reported in PMID:30690204 with a fetally-relevant phenotype (including fetal hydrops). Therefore rated Amber awaiting further cases.
Fetal anomalies v1.54 ATP1A2 Rebecca Foulger Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.53 ATP1A2 Rebecca Foulger commented on gene: ATP1A2
Fetal anomalies v1.53 ALG9 Rebecca Foulger Phenotypes for gene: ALG9 were changed from AR lethal skeletal dysplasia; ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis to Gillessen-Kaesbach-Nishimura syndrome, 263210; AR lethal skeletal dysplasia; ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis
Fetal anomalies v1.52 ALG9 Rebecca Foulger changed review comment from: Comment on list classification: ALG9 congenital disorder of glycosylation disorder has a broad phenotype and can include non-immune hydrops/NIHF (PMID:26453364 and 31420886). Although the NIHF phenotype is not consistent, even within families carrying the same variant, there are additional prenatal phenotypes reported in the literature for ALG9 cases: 3 fetally-lethal cases of skeletal dysplasia in PMID:25966638, and an individual with multiple malformations detected prenatally in PMID:28932688. Overall: fetally-relevant phenotype and sufficient cases for inclusion on panel and have therefore increased rating from Amber to Green.; to: Comment on list classification: ALG9 congenital disorder of glycosylation has a broad phenotype and can include non-immune hydrops/NIHF (PMID:26453364 and 31420886). Although the NIHF phenotype is not consistent, even within families carrying the same variant, there are additional prenatal phenotypes reported in the literature for ALG9 cases: 3 fetally-lethal cases of skeletal dysplasia in PMID:25966638, and an individual with multiple malformations detected prenatally in PMID:28932688. Overall: fetally-relevant phenotype and sufficient cases for inclusion on panel and have therefore increased rating from Amber to Green.
Fetal anomalies v1.52 ALG9 Rebecca Foulger Classified gene: ALG9 as Green List (high evidence)
Fetal anomalies v1.52 ALG9 Rebecca Foulger Added comment: Comment on list classification: ALG9 congenital disorder of glycosylation disorder has a broad phenotype and can include non-immune hydrops/NIHF (PMID:26453364 and 31420886). Although the NIHF phenotype is not consistent, even within families carrying the same variant, there are additional prenatal phenotypes reported in the literature for ALG9 cases: 3 fetally-lethal cases of skeletal dysplasia in PMID:25966638, and an individual with multiple malformations detected prenatally in PMID:28932688. Overall: fetally-relevant phenotype and sufficient cases for inclusion on panel and have therefore increased rating from Amber to Green.
Fetal anomalies v1.52 ALG9 Rebecca Foulger Gene: alg9 has been classified as Green List (High Evidence).
Fetal anomalies v1.51 ALG9 Rebecca Foulger Deleted their comment
Fetal anomalies v1.51 ALG9 Rebecca Foulger Tag for-review was removed from gene: ALG9.
Fetal anomalies v1.51 ALG9 Rebecca Foulger Phenotypes for gene: ALG9 were changed from ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis to AR lethal skeletal dysplasia; ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis
Fetal anomalies v1.50 ALG9 Rebecca Foulger Publications for gene: ALG9 were set to 26453364; 31420886
Fetal anomalies v1.49 ALG9 Rebecca Foulger changed review comment from: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero
, they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys.; to: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero, they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys.
Fetal anomalies v1.49 ALG9 Rebecca Foulger commented on gene: ALG9: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero
, they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys.
Fetal anomalies v1.49 ALG9 Rebecca Foulger commented on gene: ALG9: PMID:25966638 (Tham et al) performed fetal autopsy on 3 affected fetuses who died in utero from 2 unrelated families (from Turkey and Iraq) with Gillessen-Kaesbach-Nishimura syndrome (AR lethal skeletal dysplasia). All patients were homozygous for a splicing variant in ALG9 (NM_024740.2: c.1173+2T>A).
Fetal anomalies v1.49 ALG9 Rebecca Foulger Tag for-review tag was added to gene: ALG9.
Fetal anomalies v1.49 ALG9 Rebecca Foulger Classified gene: ALG9 as Amber List (moderate evidence)
Fetal anomalies v1.49 ALG9 Rebecca Foulger Added comment: Comment on list classification: Inborn errors of glycosylation can be a cause of non‐immune hydrops fetalis. Although G2P has a 'probable' GDA rating, there is sufficient evidence to link ALG9 to a glycosylation disorder. Approx 20% of cases show non-immune hydrops fetalis (NIHF). In PMID:26453364, 1/10 patients had NIHF: the patient was one of 4 patients within a consanguineous family and hydrops was not reported for the other 3 cousins. 3/15 ALG9 families reported with hydrops in PMID:31420886. Since phenotype is inconsistent, have kept rating as Amber awaiting further clinical review as to whether there are sufficient cases for inclusion on Fetal anomalies panel.
Fetal anomalies v1.49 ALG9 Rebecca Foulger Gene: alg9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.48 ALG9 Rebecca Foulger Publications for gene: ALG9 were set to
Fetal anomalies v1.47 ALG9 Rebecca Foulger Phenotypes for gene: ALG9 were changed from ALG9-CDG to ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis
Fetal anomalies v1.46 ALG9 Rebecca Foulger commented on gene: ALG9: PMID:31420886 Makhamreh et al., 2020 provide a literature review of Nonimmune hydrops fetalis (NIHF) and congenital disorders of glycosylation. 3/15 families had NIHF and ALG9 variants (20%). Full text unavailable at time of curation.
Fetal anomalies v1.46 ALG9 Rebecca Foulger commented on gene: ALG9: PMID:26453364. AlSubhi et al., 2016 summarise 6 patients with ALG9-CDG from the literature and report 4 additional patients from a large consanguineous family. Patient IV:3/patient4 (a male cousin of the index patient) presented with nonimmune hydrops fetalis diagnosed by fetal US at 28 weeks, and a novel homozygous variant p.E350K in the ALG9 gene. Table 2 doesn't list Hydrops in any of the previous patients.
Fetal anomalies v1.46 WDR34 Catherine Snow Tag new-gene-name tag was added to gene: WDR34.
Fetal anomalies v1.46 WDR34 Catherine Snow commented on gene: WDR34
Fetal anomalies v1.46 WDR60 Catherine Snow commented on gene: WDR60
Fetal anomalies v1.46 WDR60 Catherine Snow Tag new-gene-name tag was added to gene: WDR60.
Fetal anomalies v1.46 AHCY Rebecca Foulger Phenotypes for gene: AHCY were changed from S-adenosylhomocysteine hydrolase deficiency; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 to Fetal hydrops; S-adenosylhomocysteine hydrolase deficiency; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
Fetal anomalies v1.45 AHCY Rebecca Foulger Classified gene: AHCY as Amber List (moderate evidence)
Fetal anomalies v1.45 AHCY Rebecca Foulger Added comment: Comment on list classification: Added to panel and rated Amber by Zornitza Stark. Two unrelated families with hydrops reported (PMID:30121674, 20852937). Note that previous reports of AHCY deficiency do not include hydrops (e.g. PMID:15024124). Overall, phenotype is relevant to the panel but currently insufficient evidence for Green rating. Rated Amber awaiting further evidence.
Fetal anomalies v1.45 AHCY Rebecca Foulger Gene: ahcy has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.44 AHCY Rebecca Foulger commented on gene: AHCY: PMID:20852937. Grubbs et al., 2010 report 2 sisters born with fetal hydrops and compound het for 2 variants in AHCY (p.Arg49Cys and p.Asp86Gly). Phenotypes included severe hypotonia/myopathy, feeding problems, and respiratory failure. The sisters died age 25 days and 122 days.
Fetal anomalies v1.44 AHCY Rebecca Foulger commented on gene: AHCY
Fetal anomalies v1.44 AHCY Rebecca Foulger Phenotypes for gene: AHCY were changed from S-adenosylhomocysteine hydrolase deficiency to S-adenosylhomocysteine hydrolase deficiency; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
Fetal anomalies v1.43 SMG9 Rebecca Foulger Publications for gene: SMG9 were set to
Fetal anomalies v1.43 SMG9 Rebecca Foulger Phenotypes for gene: SMG9 were changed from SMG9 Multiple Congenital Anomaly Syndrome to SMG9 Multiple Congenital Anomaly Syndrome; Heart and brain malformation syndrome, 616920
Fetal anomalies v1.42 SMG9 Rebecca Foulger Classified gene: SMG9 as Green List (high evidence)
Fetal anomalies v1.42 SMG9 Rebecca Foulger Added comment: Comment on list classification: Rated probable in Gene2Phenotype for SMG9 Multiple Congenital Anomaly Syndrome based on 2 families in PMID:27018474. Additional family now reported in PMID:31390136. Fetally-relevant phenotype (anomalies detected in-utero) and sufficient cases to support causation. Therefore upgraded from Amber to Green.
Fetal anomalies v1.42 SMG9 Rebecca Foulger Gene: smg9 has been classified as Green List (High Evidence).
Fetal anomalies v1.41 SMG9 Rebecca Foulger commented on gene: SMG9: PMID:31390136. Lecoquierre et al., 2019 performed exome sequencing in a patient with syndromic DD and diverse malformations including cleft lip and palate, facial dysmorphia, brain abnormalities, herat defect, growth retardation and severe infections. She carried a homozygous SMG9 variant, p.(Gln393*). Her unaffected parents were both heterozygous. Phenotypes were first noted in-utero: polyhydamnios, lateral cleft lip and palate, and IUGR noted on ultrasound.
Fetal anomalies v1.41 SMG9 Rebecca Foulger commented on gene: SMG9: PMID:27018474. Shaheen et al, 2016 report 2 consanguineous families with different homozygous LOF variants in SMG9 and and a similar set of congenital anomalies including craniofacial dysmorphism, and major brain and heart malformations.
Fetal anomalies v1.41 TUBA8 Rebecca Foulger Classified gene: TUBA8 as Amber List (moderate evidence)
Fetal anomalies v1.41 TUBA8 Rebecca Foulger Added comment: Comment on list classification: The reanalysis in PMID:28388629 casts doubt that TUBA8 is responsible for the morphological phenotypes initially reported in PMID:19896110. Only 2 families (of possible shared descent) were reported. Therefore insufficient evidence for Green rating. Downgraded from Green to Amber.
Fetal anomalies v1.41 TUBA8 Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.40 TUBA8 Rebecca Foulger commented on gene: TUBA8: In 4 affected members of 2 consanguineous Pakistani families with MIM:613180, Abdollahi et al. (2009, PMID:19896110) identified a homozygous 14-bp deletion 11 bp upstream of the exon 2 splice site junction in TUBA8. The families may have common ancestory. All obligate carriers were heterozygous. The patients had neonatal hypotonia, profound mental retardation, essentially no psychomotor development, optic nerve hypoplasia, and thickened cortex with polymicrogyria and absent corpus callosum. BUT due to lack of a mouse TUBA8 phenotype, the authors in PMID:28388629 (Diggle et al 2017) reanalysed their patients from PMID:19896110 and found an additional LOF variant in SNAP29 (p.Ser163Lysfs*6). The authors suggest that SNAP29 deficiency, rather than TUBA8 deficiency, may be responsible for the patient phenotypes.
Fetal anomalies v1.40 TUBA8 Rebecca Foulger Phenotypes for gene: TUBA8 were changed from POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA to POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA; Cortical dysplasia, complex, with other brain malformations 8, 613180
Fetal anomalies v1.39 TUBA8 Rebecca Foulger Publications for gene: TUBA8 were set to
Fetal anomalies v1.38 TUBA8 Rebecca Foulger Tag for-review tag was added to gene: TUBA8.
Fetal anomalies v1.38 PAICS Rebecca Foulger Classified gene: PAICS as Amber List (moderate evidence)
Fetal anomalies v1.38 PAICS Rebecca Foulger Added comment: Comment on list classification: Added to the panel and rated Red by Zornitza. Phenotype is appropriate for the panel, but insufficient cases to support causation. Therefore rated Amber, awaiting further publications/clinical evidence. Not yet associated with a disorder in Gene2Phenotype.
Fetal anomalies v1.38 PAICS Rebecca Foulger Gene: paics has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.37 PAICS Rebecca Foulger Phenotypes for gene: PAICS were changed from Polyhydramnios; multiple congenital abnormalities to Polyhydramnios; multiple congenital abnormalities; early neonatal death
Fetal anomalies v1.36 PAICS Rebecca Foulger changed review comment from: PMID:31600779. Pelet et al. report an AR inborn error of de novo purine synthesis due to homozygous missense vairant in PAICS (c.158A>G; p.Lys53Arg) in 2 siblings from the Faroe islands. Catalytic activity of the mutant protein was approx 25% of wild type levels. The siblings had multiple malformations resulting in early neonatal death.; to: PMID:31600779. Pelet et al. report an AR inborn error of de novo purine synthesis due to homozygous missense variant in PAICS (c.158A>G; p.Lys53Arg) in 2 siblings from the Faroe islands. Catalytic activity of the mutant protein was approx 25% of wild type levels. The siblings had multiple malformations resulting in early neonatal death.
Fetal anomalies v1.36 PAICS Rebecca Foulger commented on gene: PAICS
Fetal anomalies v1.36 MSL3 Rebecca Foulger Phenotypes for gene: MSL3 were changed from MSL3 syndrome to MSL3 syndrome; Basilicata-Akhtar syndrome, 301032
Fetal anomalies v1.35 CNOT3 Rebecca Foulger Phenotypes for gene: CNOT3 were changed from CNOT3 syndrome; Intellectual developmental disorder with speech delay, 618672 autism, and dysmorphic facies to CNOT3 syndrome; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672
Fetal anomalies v1.34 CNOT3 Rebecca Foulger Phenotypes for gene: CNOT3 were changed from CNOT3 syndrome to CNOT3 syndrome; Intellectual developmental disorder with speech delay, 618672 autism, and dysmorphic facies
Fetal anomalies v1.33 FGF20 Rebecca Foulger Classified gene: FGF20 as Red List (low evidence)
Fetal anomalies v1.33 FGF20 Rebecca Foulger Added comment: Comment on list classification: Not yet associated with a disorder in Gene2Phenotype. One consanguineous family plus functional studies in mice showing a role in kidney development. Therefore kept rating as Red awaiting further evidence.
Fetal anomalies v1.33 FGF20 Rebecca Foulger Gene: fgf20 has been classified as Red List (Low Evidence).
Fetal anomalies v1.32 FGF20 Rebecca Foulger gene: FGF20 was added
gene: FGF20 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF20 were set to 22698282; 23112089
Phenotypes for gene: FGF20 were set to ?Renal hypodysplasia/aplasia 2, 615721
Added comment: Added to Fetal panel based on literature search. PMID:22698282. Barak et al., 2012 identify a homozygous frameshift truncating variant (c.337delG) in FGF20, which segregated with the disorder in a consanguineous familly. Pregnancies showed anhydramnios and the fetuses had bilateral renal agenesis. All pregnancies were terminated. Mouse model shows loss of Fgf20 resulted in kidney agenesis. Additional papers report functional experiments (in mice) that confirm role of FGF20 in kidney development (e.g. PMID:23112089).
Sources: Literature
Fetal anomalies v1.31 EXOC3L2 Rebecca Foulger Classified gene: EXOC3L2 as Green List (high evidence)
Fetal anomalies v1.31 EXOC3L2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: 3 unrelated fetal cases (PMIDs:27894351,28749478,30327448).
Fetal anomalies v1.31 EXOC3L2 Rebecca Foulger Gene: exoc3l2 has been classified as Green List (High Evidence).
Fetal anomalies v1.30 EXOC3L2 Rebecca Foulger changed review comment from: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family.; to: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family (reviewed briefly in PMID:28749478).
Fetal anomalies v1.30 EXOC3L2 Rebecca Foulger commented on gene: EXOC3L2: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family.
Fetal anomalies v1.30 EXOC3L2 Rebecca Foulger Publications for gene: EXOC3L2 were set to 30327448; 28749478
Fetal anomalies v1.29 EXOC3L2 Rebecca Foulger Publications for gene: EXOC3L2 were set to 30327448
Fetal anomalies v1.28 EXOC3L2 Rebecca Foulger commented on gene: EXOC3L2: PMID: 28749478: Shamseldin et al., 2018 performed exome sequencing as part of molecular autopsy in a cohort of 44 families with at least one death or lethal fetal malformation. They report one fetus with a biallelic EXOC3L2 variant and a phenotype similar to Meckel-Gruber syndrome.
Fetal anomalies v1.28 EXOC3L2 Rebecca Foulger gene: EXOC3L2 was added
gene: EXOC3L2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC3L2 were set to 30327448
Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation
Added comment: Added to panel based on PMID:30327448: Shalata et al., 2019 report 3 fetuses from a family with homozygous variants in EXOC3L2 (missense p.Leu41Gln) and severe forms of Dandy-Walker that were detectable by prenatal ultrasound.
Sources: Literature
Fetal anomalies v1.27 DHCR7 Rebecca Foulger commented on gene: DHCR7: PMID:31840946 (Schoner et al., 2020) performed autopsies and DHCR7 gene analyses in 8 fetuses suspected of having SLOS. 5/9 fetuses presented with classic SLOS features including 4 with atrial/atrioventricular septal defects and renal anomalies, and one with additional bilateral renal agenesis and a Dandy-Walker cyst. Two fetuses were mildly affected and two fetuses showed additional holoprosencephaly. DHCR7 variants were confirmed in cases 1-5 and 7.
Fetal anomalies v1.27 DHCR7 Rebecca Foulger Publications for gene: DHCR7 were set to
Fetal anomalies v1.26 POLE Rebecca Foulger changed review comment from: Comment on list classification: Updated rating from Amber to Green: Multiple cases of IUGR from 2 papers (PMID:25948378 and PMID:30503519). Phenotype relevant to panel, and sufficient evidence to support causation.; to: Comment on list classification: Originally added to panel as Amber based on PMID:30503519. Updated rating from Amber to Green with curation of additional paper PMID:25948378 who report a separate individual with IUGR. Phenotype relevant to panel, and sufficient evidence to support causation.
Fetal anomalies v1.26 POLE Rebecca Foulger Deleted their comment
Fetal anomalies v1.26 POLE Rebecca Foulger Classified gene: POLE as Green List (high evidence)
Fetal anomalies v1.26 POLE Rebecca Foulger Gene: pole has been classified as Green List (High Evidence).
Fetal anomalies v1.25 POLE Rebecca Foulger Classified gene: POLE as Green List (high evidence)
Fetal anomalies v1.25 POLE Rebecca Foulger Gene: pole has been classified as Green List (High Evidence).
Fetal anomalies v1.24 POLE Rebecca Foulger Classified gene: POLE as Amber List (moderate evidence)
Fetal anomalies v1.24 POLE Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Multiple cases of IUGR from 2 papers (PMID:25948378 and PMID:30503519). Phenotype relevant to panel, and sufficient evidence to support causation.
Fetal anomalies v1.24 POLE Rebecca Foulger Gene: pole has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.23 POLE Rebecca Foulger Publications for gene: POLE were set to 23230001
Fetal anomalies v1.22 POLE Rebecca Foulger commented on gene: POLE: PMID:25948378 (Thiffault et al., 2015) report a girl homozygous for a splice variant in POLE1 (c.4444 + 3A > G). Fetal anomalies on the ultrasound included intrauterine growth restriction, short long bones, suspected skull abnormalities nad oligohydamnios.
Fetal anomalies v1.22 POLE Rebecca Foulger Phenotypes for gene: POLE were changed from IUGR; severe growth failure of prenatal onset to IUGR; severe growth failure of prenatal onset; FILS syndrome, 615139; facial dysmorphism, immunodeficiency, livedo, and short stature (FILS)
Fetal anomalies v1.21 POLE Rebecca Foulger Classified gene: POLE as Amber List (moderate evidence)
Fetal anomalies v1.21 POLE Rebecca Foulger Added comment: Comment on list classification: Added as Amber awaiting Clinical Review.
Fetal anomalies v1.21 POLE Rebecca Foulger Gene: pole has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.20 POLE Rebecca Foulger gene: POLE was added
gene: POLE was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to 23230001
Phenotypes for gene: POLE were set to IUGR; severe growth failure of prenatal onset
Added comment: Added to panel based on prenatal phenotype reported in PMID:30503519: (Logan et al., 2018) report biallelic variants in POLE in 15 indivs from 12 families (mix of countries). All subjects shared the same intronic variant (c.1686+32C>G) as part of a common haplotype, in combination with different loss-of-function variants in trans. Phenotypically, affected individuals all had IUGR and severe growth failure of prenatal onset.
Sources: Literature
Fetal anomalies v1.19 MYL9 Rebecca Foulger Publications for gene: MYL9 were set to
Fetal anomalies v1.18 MYL9 Rebecca Foulger Classified gene: MYL9 as Red List (low evidence)
Fetal anomalies v1.18 MYL9 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red to match review by Rhiannon Mellis (GOSH).
Fetal anomalies v1.18 MYL9 Rebecca Foulger Gene: myl9 has been classified as Red List (Low Evidence).
Fetal anomalies v1.17 LMOD1 Rebecca Foulger Classified gene: LMOD1 as Red List (low evidence)
Fetal anomalies v1.17 LMOD1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red to match review by Rhiannon Mellis (GOSH).
Fetal anomalies v1.17 LMOD1 Rebecca Foulger Gene: lmod1 has been classified as Red List (Low Evidence).
Fetal anomalies v1.16 MYH11 Rebecca Foulger Publications for gene: MYH11 were set to
Fetal anomalies v1.15 MYH11 Rebecca Foulger Classified gene: MYH11 as Green List (high evidence)
Fetal anomalies v1.15 MYH11 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green to match review by Rhiannon Mellis (GOSH).
Fetal anomalies v1.15 MYH11 Rebecca Foulger Gene: myh11 has been classified as Green List (High Evidence).
Fetal anomalies v1.14 MYH11 Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to BIALLELIC to match papers: compound het and homozygous MYH11 variants associated with MMIH.
Fetal anomalies v1.14 MYH11 Rebecca Foulger Mode of inheritance for gene: MYH11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.13 MYLK Rebecca Foulger Publications for gene: MYLK were set to
Fetal anomalies v1.12 MYLK Rebecca Foulger Phenotypes for gene: MYLK were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome; MMIH
Fetal anomalies v1.11 MYL9 Rhiannon Mellis reviewed gene: MYL9: Rating: RED; Mode of pathogenicity: ; Publications: 29453416; Phenotypes: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH); Mode of inheritance:
Fetal anomalies v1.11 LMOD1 Rhiannon Mellis reviewed gene: LMOD1: Rating: RED; Mode of pathogenicity: ; Publications: 28292896; Phenotypes: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH); Mode of inheritance:
Fetal anomalies v1.11 MYH11 Rhiannon Mellis reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: ; Publications: 25407000, 29575632, 31427716; Phenotypes: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH); Mode of inheritance:
Fetal anomalies v1.11 MYLK Rhiannon Mellis reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: ; Publications: 28602422; Phenotypes: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH); Mode of inheritance:
Fetal anomalies v1.10 MYL9 Rebecca Foulger gene: MYL9 was added
gene: MYL9 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYL9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYL9 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Added comment: Added to panel as suggested by Rhiannon Mellis (GOSH).
Sources: Expert list
Fetal anomalies v1.9 LMOD1 Rebecca Foulger gene: LMOD1 was added
gene: LMOD1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: LMOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD1 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Added comment: Added to panel as suggested by Rhiannon Mellis (GOSH).
Sources: Expert list
Fetal anomalies v1.8 MYH11 Rebecca Foulger gene: MYH11 was added
gene: MYH11 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH11 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Added comment: Added to panel as suggested by Rhiannon Mellis (GOSH).
Sources: Expert list
Fetal anomalies v1.7 PAICS Zornitza Stark gene: PAICS was added
gene: PAICS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAICS were set to 31600779
Phenotypes for gene: PAICS were set to Polyhydramnios; multiple congenital abnormalities
Review for gene: PAICS was set to RED
Added comment: Two sibs from single family reported with homozygous missense variant. Functional data to demonstrate effect on protein function.
Sources: Literature
Fetal anomalies v1.7 CEP55 Rebecca Foulger Classified gene: CEP55 as Green List (high evidence)
Fetal anomalies v1.7 CEP55 Rebecca Foulger Gene: cep55 has been classified as Green List (High Evidence).
Fetal anomalies v1.6 CEP55 Rebecca Foulger Classified gene: CEP55 as Red List (low evidence)
Fetal anomalies v1.6 CEP55 Rebecca Foulger Added comment: Comment on list classification: Added gene to panel as Green: MARCH phenotype is appropriate for fetal panel, and 3 unrelated fetal cases reported in literature. Not yet associated with a disorder in Gene2Phenotype.
Fetal anomalies v1.6 CEP55 Rebecca Foulger Gene: cep55 has been classified as Red List (Low Evidence).
Fetal anomalies v1.5 CEP55 Rebecca Foulger Publications for gene: CEP55 were set to 28264986; 28295209
Fetal anomalies v1.4 CEP55 Rebecca Foulger changed review comment from: PMID:30622327 (Rawlins et al., 2019) report a novel homozygous founder frameshift variant(p.Ile172Asnfs*17) in CEP55 in 2 siblings presenting with a lethal fetal disorder including cystic dysplastic kidneys. The variant is present at low frequency in the Amish community.; to: PMID:30622327 (Rawlins et al., 2019) report a novel homozygous founder frameshift variant (p.Ile172Asnfs*17) in CEP55 in 2 siblings presenting with a lethal fetal disorder including cystic dysplastic kidneys. The variant is present at low frequency in the Amish community.
Fetal anomalies v1.4 CEP55 Rebecca Foulger commented on gene: CEP55: PMID:30622327 (Rawlins et al., 2019) report a novel homozygous founder frameshift variant(p.Ile172Asnfs*17) in CEP55 in 2 siblings presenting with a lethal fetal disorder including cystic dysplastic kidneys. The variant is present at low frequency in the Amish community.
Fetal anomalies v1.4 CEP55 Rebecca Foulger commented on gene: CEP55: PMID:28295209. Bondeson et al report a Swedish couple with 2 affected male fetuses homozygous for CEP55 p.Arg86*. Although the phenotype differed between fetuses, both exhibited kidney phenotypes (including renal dysplaisa). Segregation analysis supported the gene:disease association, and Haplotype analysis suggested a founder effect.
Fetal anomalies v1.4 CEP55 Rebecca Foulger commented on gene: CEP55: PMID:28264986: Frosk et al, 2017 report a Dutch-German Mennonite family with 3 affected fetuses homozygous for CEP55 nonsense variant p.Ser425* presenting with MIM:236500 including renal dysplasia.
Fetal anomalies v1.4 CEP55 Rebecca Foulger gene: CEP55 was added
gene: CEP55 was added to Fetal anomalies. Sources: Other
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 28264986; 28295209
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; lethal CEP55-related syndromes
Added comment: Added to Fetal anomalies panel on advice from Helen Brittain, Genomics England Clinical Team. MARCH phenotype is appropriate for this panel.
Sources: Other
Fetal anomalies v1.3 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.3 SMG9 Zornitza Stark reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27018474, 31390136; Phenotypes: Heart and brain malformation syndrome, MIM# 616920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.3 Rebecca Foulger Panel version has been signed off
Fetal anomalies v1.0 AHCY Zornitza Stark gene: AHCY was added
gene: AHCY was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 30121674; 20852937
Phenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency
Review for gene: AHCY was set to AMBER
Added comment: Please note recent additional report of this condition presenting prenatally with hydrops.
Sources: Expert list
Fetal anomalies v1.0 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26453364, 31420886; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP1A2 were set to 30690204
Phenotypes for gene: ATP1A2 were set to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Review for gene: ATP1A2 was set to AMBER
gene: ATP1A2 was marked as current diagnostic
Added comment: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.
Sources: Expert list
Fetal anomalies v1.0 PSAT1 Zornitza Stark reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152457; Phenotypes: Neu-Laxova syndrome 2, MIM# 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.0 Rebecca Foulger promoted panel to version 1.0
Fetal anomalies v0.375 Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Fetal anomalies v0.374 SHOX Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia).
Fetal anomalies v0.374 SHOX Eleanor Williams Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.373 KMT2E Rebecca Foulger Phenotypes for gene: KMT2E were changed from INTELLECTUAL DISABILITY to INTELLECTUAL DISABILITY; O'Donnell-Luria-Rodan syndrome, 618512
Fetal anomalies v0.372 CNOT1 Rebecca Foulger Phenotypes for gene: CNOT1 were changed from pancreatic agenesis and holoprosencephaly syndrome to Holoprosencephaly 12, with or without pancreatic agenesis, 618500
Fetal anomalies v0.371 ADNP Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Can have congenital heart defects.
Fetal anomalies v0.371 BICD2 Rebecca Foulger Classified gene: BICD2 as Green List (high evidence)
Fetal anomalies v0.371 BICD2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green based on external review highlighting literature evidence of fetal phenotypes, and agreement from Lyn Chitty and Rhiannon Mellis (Great Ormond Street Hospital).
Fetal anomalies v0.371 BICD2 Rebecca Foulger Gene: bicd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.370 BICD2 Rebecca Foulger Publications for gene: BICD2 were set to 27751653; 29274205; 28635954
Fetal anomalies v0.369 BICD2 Rebecca Foulger Phenotypes for gene: BICD2 were changed from PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); reduced fetal movements; hydrops fetalis to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); reduced fetal movements; hydrops fetalis; Pterygium
Fetal anomalies v0.368 BICD2 Rebecca Foulger Phenotypes for gene: BICD2 were changed from PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); reduced fetal movements; hydrops fetalis
Fetal anomalies v0.367 BICD2 Rebecca Foulger commented on gene: BICD2: PMID:28635954 (Storbeck et al., 2017) describe 3 individuals of independent families with severe severe arthrogryposis multiplex congenita (AMC), respiratory insufficiency, and early lethality caused by three BICD2 variants (p.Arg694Cys, p.Gln194Arg and p.Cys542Trp, 2 of which are proven to be de novo). They also describe an asymptomatic women with subclinical findings with the previously described p.(Thr703Met) variant.
Fetal anomalies v0.367 BICD2 Rebecca Foulger commented on gene: BICD2: PMID:29274205 (Ahmed et al., 2018) report a stillborn female fetus (case 4) with pterygia and arthrogryposis with a heterozygous likely-pathogenic variant in BICD2. Phenotypes included an abnormal fetal position with fixed limbs, hydrops fetalis and polyhydramnios. A heterozygous p.Asn700Lys variant in BICD2 was revealed. However, compound het variants of unknown significance in AGRN were also identified, so the authors can not be certain that BICD2 is the causative variant.
Fetal anomalies v0.367 BICD2 Rebecca Foulger commented on gene: BICD2: PMID:27751653 (Ravenscroft et al., 2016) report two unrelated probands (a German male and a boy from a Welsh mother and NZ/European father) that presented in utero with reduced fetal movement. Both cases had arthrogryposis multiplex congenita (AMC) and hypotonia diagnosed at birth. The same missense de novo variant in BICD2 (p.Arg694Cys) was present in both probands.
Fetal anomalies v0.367 BICD2 Rebecca Foulger commented on gene: BICD2: OMIM Clinical Synopsis for MIM:618291 now mentions onset in Utero, including fractures in utero and decreased fetal movements, as noted by Rhiannon Mellis.
Fetal anomalies v0.367 BICD2 Rebecca Foulger Mode of pathogenicity for gene: BICD2 was changed from to Other
Fetal anomalies v0.366 BICD2 Rebecca Foulger Phenotypes for gene: BICD2 were changed from PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
Fetal anomalies v0.365 BICD2 Rebecca Foulger Publications for gene: BICD2 were set to
Fetal anomalies v0.363 Rebecca Foulger List of related panels changed from R21 to R21; Fetal anomalies with a likely genetic cause
Fetal anomalies v0.362 KLF1 Rebecca Foulger Phenotypes for gene: KLF1 were changed from ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; Hydrops Fetalis
Fetal anomalies v0.361 KLF1 Rebecca Foulger Publications for gene: KLF1 were set to
Fetal anomalies v0.360 KLF1 Rebecca Foulger Mode of pathogenicity for gene: KLF1 was changed from to Other
Fetal anomalies v0.359 KLF1 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'Monoallelic' to 'BOTH AD+AR' (after agreement from Rhiannon Mellis, GOSH), to match the MOI on the Fetal hydrops v.1.16 panel. The expanded MOI is based on compound heterozygous cases in PMID:25724378 and PMID:28361594.
Fetal anomalies v0.359 KLF1 Rebecca Foulger Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.358 CRYBB1 Rebecca Foulger Phenotypes for gene: CRYBB1 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 to CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3
Fetal anomalies v0.357 CRYBB1 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the 'confirmed' disorder in DDG2P has 'monoallelic' inheritance (and 'probable' rating for the biallelic disorders), have kept the MOI as 'both AD and AR' on the fetal panel so all cataract cases are picked up.
Fetal anomalies v0.357 CRYBB1 Rebecca Foulger Mode of inheritance for gene: CRYBB1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.356 FBN1 Rebecca Foulger Publications for gene: FBN1 were set to
Fetal anomalies v0.355 FBN1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Both AD + AR' to 'MONOALLELIC' only to match current DDG2P Allelic requirement of 'monoallelic' for all confirmed disorders (SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; MARFAN SYNDROME; MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE).
Fetal anomalies v0.355 FBN1 Rebecca Foulger Mode of inheritance for gene: FBN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.354 ALG3 Rebecca Foulger Publications for gene: ALG3 were set to
Fetal anomalies v0.353 LMBR1 Eleanor Williams commented on gene: LMBR1
Fetal anomalies v0.353 SMN1 Rebecca Foulger Publications for gene: SMN1 were set to
Fetal anomalies v0.352 SCO2 Rebecca Foulger commented on gene: SCO2: PMID:18924171 (Verdijk et al, 2008) report the first prenatal diagnosis of a compound heterozygous SCO2 variant in the literature. The sibling died of fatal infantile cardioencephalomyopathy.
Fetal anomalies v0.352 SCO2 Rebecca Foulger Publications for gene: SCO2 were set to
Fetal anomalies v0.351 SIK3 Rebecca Foulger Phenotypes for gene: SIK3 were changed from ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 to Spondyloepimetaphyseal dysplasia, Krakow type, 618162
Fetal anomalies v0.350 SIK3 Rebecca Foulger Classified gene: SIK3 as Green List (high evidence)
Fetal anomalies v0.350 SIK3 Rebecca Foulger Added comment: Comment on list classification: Added SIK3 to panel as a Green gene following communication with Rhiannon Mellis. A mouse model (PMID:22318228) provides additional support: mice show skeletal anomalies (plus dwarfism postnatally).
Fetal anomalies v0.350 SIK3 Rebecca Foulger Gene: sik3 has been classified as Green List (High Evidence).
Fetal anomalies v0.349 SIK3 Rebecca Foulger gene: SIK3 was added
gene: SIK3 was added to Fetal anomalies. Sources: Other
Mode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIK3 were set to 30232230; 22318228
Phenotypes for gene: SIK3 were set to ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162
Added comment: Added to panel as suggested by Rhinannon Mellis. One pair of siblings with spondyloepimetaphyseal dysplasia reported in PMID:30232230 (Csukasi et al., 2018) plus one clinical case of suspected skeletal dysplasia prenatally.
Sources: Other
Fetal anomalies v0.348 GLA Rebecca Foulger changed review comment from: Added GLA to panel based on Green rating on Fetal hydrops panel V1.16, following email communication from Dominic McMullan (West Midlands, Oxford and Wessex GLH).
Sources: Other; to: Added GLA to panel as a Green gene based on Green rating on Fetal hydrops panel V1.16, following email communication from Dominic McMullan (West Midlands, Oxford and Wessex GLH).
Sources: Other
Fetal anomalies v0.348 GLA Rebecca Foulger Classified gene: GLA as Green List (high evidence)
Fetal anomalies v0.348 GLA Rebecca Foulger Gene: gla has been classified as Green List (High Evidence).
Fetal anomalies v0.347 GLA Rebecca Foulger gene: GLA was added
gene: GLA was added to Fetal anomalies. Sources: Other
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were set to Fabry disease, 301500
Added comment: Added GLA to panel based on Green rating on Fetal hydrops panel V1.16, following email communication from Dominic McMullan (West Midlands, Oxford and Wessex GLH).
Sources: Other
Fetal anomalies v0.346 BICD2 Suzanne Drury reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27751653, 29274205, 28635954; Phenotypes: HP:0002804, HP:0001059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.346 AMER1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from Monoallelic to X-linked dominant to match other PanelApp panels. Although the Gene2Phenotype inheritance is currently listed as monoallelic, AMER1 is an X-linked gene.
Fetal anomalies v0.346 AMER1 Rebecca Foulger Mode of inheritance for gene: AMER1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.345 FAM58A Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from MONOALLELIC to X-linked dominant. Although monoallelic inheritance is currently listed in DDG2P for STAR SYNDROME, FAM58A (CCNQ) is an X-linked gene.
Fetal anomalies v0.345 FAM58A Rebecca Foulger Mode of inheritance for gene: FAM58A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.344 NMNAT2 Rebecca Foulger Classified gene: NMNAT2 as Amber List (moderate evidence)
Fetal anomalies v0.344 NMNAT2 Rebecca Foulger Added comment: Comment on list classification: NMNAT2 was added to the Fetal anomalies panel and rated Green by Michael Coleman (University of Cambridge). Not yet associated with a disorder in OMIM or Gene2Phenotype. Currently 2 fetal siblings (1 case) in PMID:31136762 and a mouse model. Rated as Amber awaiting clinical feedback and further cases.
Fetal anomalies v0.344 NMNAT2 Rebecca Foulger Gene: nmnat2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.343 NMNAT2 Rebecca Foulger commented on gene: NMNAT2: PMID:31132363, Huppke et al., 2019 report a homozygous missense variant (c.281C>T (T94M) in NMNAT2 in 2 siblings with childhood onset polyneuropathy with erythromelalgia: symptoms were first seen age 4.
Fetal anomalies v0.343 NMNAT2 Rebecca Foulger commented on gene: NMNAT2
Fetal anomalies v0.343 NMNAT2 Rebecca Foulger Publications for gene: NMNAT2 were set to PMID: 31136762
Fetal anomalies v0.342 ANAPC1 Rebecca Foulger commented on gene: ANAPC1: Added ANAPC1 to the Fetal anomalies panel and rated Green on approval from Anna de Burca and Richard Scott (Genomics England Clinical team). Note yet associated with a disorder in OMIM but evidence comes from PMID:31303264 (Ajeawung et al., 2019) where they report 10 individuals (7 families including 3 families of Amish ancestry) with Rothmund-Thomson Syndrome Type 1 and biallelic variants in ANAPC1. Phenotype includes skeletal abnormalities and short stature. All individuals carried an intronic splicing variant (NM_022662.3:c.2705−198C>T): in 3 Amish families plus individual 4, this intronic variant was found in a homozygous state. In the remaining families, the intronic variant was found in trans with one of three other LOF variants. Therefore sufficient cases to support a Green rating plus fetally-relevant phenotype.
Fetal anomalies v0.342 ANAPC1 Rebecca Foulger reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.342 ANAPC1 Rebecca Foulger gene: ANAPC1 was added
gene: ANAPC1 was added to Fetal anomalies. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson Syndrome Type 1
Fetal anomalies v0.341 NMNAT2 Michael Coleman gene: NMNAT2 was added
gene: NMNAT2 was added to Fetal anomalies. Sources: Research
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to PMID: 31136762
Phenotypes for gene: NMNAT2 were set to hydrops fetalis; cystic hygroma; bilateral hypoplastic lungs; hydrocephalus; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; flexion contractures of all extremities; micrognathia; cleft palate; hydropic placenta
Penetrance for gene: NMNAT2 were set to Complete
Review for gene: NMNAT2 was set to GREEN
Added comment: Closely related phenotype in homozygous null mouse (PMID 23946398)
Sources: Research
Fetal anomalies v0.341 GJB2 Rebecca Foulger Publications for gene: GJB2 were set to 23035047
Fetal anomalies v0.340 GJB2 Rebecca Foulger Classified gene: GJB2 as Red List (low evidence)
Fetal anomalies v0.340 GJB2 Rebecca Foulger Added comment: Comment on list classification: Demoted GJB2 from Green to Red as requested by Anna de Burca. See Anna's review (9 September 2019)- the digit phenotype is unlikely to be detected on fetal ultrasound.
Fetal anomalies v0.340 GJB2 Rebecca Foulger Gene: gjb2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.339 GJB2 Anna de Burca reviewed gene: GJB2: Rating: ; Mode of pathogenicity: None; Publications: 24346921; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.339 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Fetal anomalies v0.339 ARSE Louise Daugherty commented on gene: ARSE
Fetal anomalies v0.339 H3F3A Louise Daugherty Tag new-gene-name tag was added to gene: H3F3A.
Fetal anomalies v0.339 H3F3A Louise Daugherty commented on gene: H3F3A
Fetal anomalies v0.339 HIST1H4C Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4C.
Fetal anomalies v0.339 HIST1H4C Louise Daugherty commented on gene: HIST1H4C
Fetal anomalies v0.339 HIST1H1E Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H1E.
Fetal anomalies v0.339 HIST1H1E Louise Daugherty commented on gene: HIST1H1E
Fetal anomalies v0.339 KIF1BP Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP.
Fetal anomalies v0.339 KIF1BP Louise Daugherty commented on gene: KIF1BP
Fetal anomalies v0.339 IARS Louise Daugherty commented on gene: IARS
Fetal anomalies v0.339 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
Fetal anomalies v0.339 QARS Louise Daugherty commented on gene: QARS
Fetal anomalies v0.339 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Fetal anomalies v0.339 KARS Louise Daugherty commented on gene: KARS
Fetal anomalies v0.339 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Fetal anomalies v0.339 AARS Louise Daugherty commented on gene: AARS
Fetal anomalies v0.339 DARS Louise Daugherty Deleted their comment
Fetal anomalies v0.339 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Fetal anomalies v0.339 DARS Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1
Fetal anomalies v0.339 DARS Louise Daugherty commented on gene: DARS
Fetal anomalies v0.339 SLC35A2 Rebecca Foulger Mode of inheritance for gene: SLC35A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.338 SLC35A2 Rebecca Foulger Added comment: Comment on mode of inheritance: Gene2Phenotype currently records a 'monoallelic' MOI for SLC35A2 for 'CONGENITAL DISORDER OF GLYCOSYLATION'. Changed MOI from 'monoallelic' to 'XLD' because SLC35A2 is on the X-chromosome.
Fetal anomalies v0.338 SLC35A2 Rebecca Foulger Mode of inheritance for gene: SLC35A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.337 MITF Rebecca Foulger changed review comment from: Kept rating as Amber on advice from Anna de Burca (Genomics England Clinical Team): fetally releavant phenotype but insufficient evidence for Green rating.; to: Kept rating as Amber on advice from Anna de Burca (Genomics England Clinical Team): fetally relevant phenotype but insufficient evidence for Green rating.
Fetal anomalies v0.337 TGFB1 Rebecca Foulger edited their review of gene: TGFB1: Changed rating: RED
Fetal anomalies v0.337 TERT Rebecca Foulger edited their review of gene: TERT: Changed rating: RED
Fetal anomalies v0.337 SASS6 Rebecca Foulger Classified gene: SASS6 as Amber List (moderate evidence)
Fetal anomalies v0.337 SASS6 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to match 'possible' Disease confidence rating in PAGE Additional genes list. Note that SASS6 is not currently associated with a disorder in Gene2Phenotype. Associated with OMIM disorder: ?Microcephaly 14, primary, autosomal recessive, 616402' based on 1 reported family.
Fetal anomalies v0.337 SASS6 Rebecca Foulger Gene: sass6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.336 PDHB Rebecca Foulger commented on gene: PDHB
Fetal anomalies v0.336 PDHB Rebecca Foulger Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency to Pyruvate dehydrogenase E1-beta deficiency, 614111
Fetal anomalies v0.335 AUTS2 Rebecca Foulger edited their review of gene: AUTS2: Changed rating: RED
Fetal anomalies v0.335 Rebecca Foulger List of related panels changed from to R21
Fetal anomalies v0.334 PKD1 Rebecca Foulger Mode of inheritance for gene: PKD1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.333 SMARCAL1 Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SMARCAL1 gene rating from Green to Red.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: IUGR can present but is not severe. Action taken: Demoted SMARCAL1 gene rating from Green to Red.
Fetal anomalies v0.333 MFSD8 Rebecca Foulger commented on gene: MFSD8: Kept rating of MFSD8 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.333 VPS13B Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: As RM notes: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: RM notes that Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.333 VPS13B Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: As RM notes: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.333 VPS13B Rebecca Foulger Publications for gene: VPS13B were set to
Fetal anomalies v0.332 VPS13B Rebecca Foulger commented on gene: VPS13B: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.332 GALC Rebecca Foulger Classified gene: GALC as Green List (high evidence)
Fetal anomalies v0.332 GALC Rebecca Foulger Added comment: Comment on list classification: Promoted GALC from Red to Green based on review by Anna de Burca, and agreement from Rhiannon Mellis (GOSH) and Richard Scott (Genomics England Clinical team).
Fetal anomalies v0.332 GALC Rebecca Foulger Gene: galc has been classified as Green List (High Evidence).
Fetal anomalies v0.331 KCTD7 Rebecca Foulger commented on gene: KCTD7: Kept rating of KCTD7 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.331 CLN8 Rebecca Foulger commented on gene: CLN8: Kept rating of CLN8 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.331 CLN5 Rebecca Foulger commented on gene: CLN5: Kept rating of CLN5 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.331 CLN3 Rebecca Foulger commented on gene: CLN3: Kept rating of CLN3 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.331 TPP1 Rebecca Foulger commented on gene: TPP1: Kept rating of TPP1 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.331 PPT1 Rebecca Foulger commented on gene: PPT1: Kept rating of PPT1 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.331 CTSD Rebecca Foulger commented on gene: CTSD: Kept rating of CTSD as Green, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Fetal anomalies v0.331 PDHA1 Rebecca Foulger Phenotypes for gene: PDHA1 were changed from X-LINKED LEIGH SYNDROME; PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; INTELLECTUAL DISABILTIY to Pyruvate dehydrogenase E1-alpha deficiency; X-LINKED LEIGH SYNDROME; PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; INTELLECTUAL DISABILTIY
Fetal anomalies v0.330 PDHA1 Rebecca Foulger Publications for gene: PDHA1 were set to
Fetal anomalies v0.329 PDHA1 Rebecca Foulger commented on gene: PDHA1: Kept rating of PDHA1 as Green based on Green review by Anna de Burca, and agreement with Richard Scott from the Genomics England Clinical team.
Fetal anomalies v0.329 PTEN Rebecca Foulger changed review comment from: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: No structural features. Demote from Green to Red. ; to: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Hydrocephalus is very unusual, and PTEN is on the Hydrocephalus panel because of the macrocephaly phenotype. Demote from Green to Red.
Fetal anomalies v0.329 SLC4A4 Rebecca Foulger Publications for gene: SLC4A4 were set to
Fetal anomalies v0.328 SLC4A4 Rebecca Foulger commented on gene: SLC4A4: SLC4A4 was re-reviewed by Anna de Burca (Genomics England clinical team) to determine if patients presented with cataracts. Anna notes that there aren’t very many published cases and not all had cataracts. Of those that did, PMID:16636648 cataracts were definitely not congenital and in PMID:11131345 they were only picked up at 4 years so probably not congenital either. Therefore appropriate to remain Red.
Fetal anomalies v0.328 VDR Rebecca Foulger Classified gene: VDR as Amber List (moderate evidence)
Fetal anomalies v0.328 VDR Rebecca Foulger Added comment: Comment on list classification: Demoted rating from Green to Amber following discussions with Anna de Burca (Genomics England Clinical Team) and Rhiannon Mellis (Great Ormond Street). As Anna and Rhiannon note: rickets due to VDR could theoretically present in a fetus of a homozygous mother, as Melita suggested, but it would actually be caused by the mother’s vitamin D status irrespective of the baby’s genotype. Therefore, rather than performing a fetal exome, it would be better investigating the mother, who would have clinical signs and biochemical abnormalities in her own right.
Fetal anomalies v0.328 VDR Rebecca Foulger Gene: vdr has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.327 VDR Rebecca Foulger changed review comment from: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita reports that difficult to determine if skeletal features present antenatally as often mother has vitamin D deficiency too, so on balance probably should be Green.; to: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita reports that difficult to determine if skeletal features present antenatally as often mother has vitamin D deficiency too.
Fetal anomalies v0.327 IARS Sarah Leigh Tag new-gene-name tag was added to gene: IARS.
Fetal anomalies v0.327 IARS Sarah Leigh commented on gene: IARS
Fetal anomalies v0.327 RAC1 Rebecca Foulger Publications for gene: RAC1 were set to 30712878
Fetal anomalies v0.326 TRPV6 Rebecca Foulger Classified gene: TRPV6 as Green List (high evidence)
Fetal anomalies v0.326 TRPV6 Rebecca Foulger Added comment: Comment on list classification: Added to panel as Amber based on 'probable' Disease confidence in DDG2P for Transient Neonatal Hyperparathyroidism. Upgraded to Green on advice from Anna de Burca (Genomics England Clinical team) and Rhiannon Mellis (Great Ormond Street Hospital). They note that anomalies may be detected on third trimester scans but actually have a better prognosis in the long term so important diagnostically, and a differential diagnosis for Osteogenesis imperfecta. Plus Helen Brittain (Genomics England Clinical team) has reviewed on TRPV6 on the Skeletal dysplasia panel and notes: "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". Therefore sufficient cases and relevant phenotype for inclusion on the Fetal anomalies panel.
Fetal anomalies v0.326 TRPV6 Rebecca Foulger Gene: trpv6 has been classified as Green List (High Evidence).
Fetal anomalies v0.325 TRPV6 Rebecca Foulger Classified gene: TRPV6 as Amber List (moderate evidence)
Fetal anomalies v0.325 TRPV6 Rebecca Foulger Gene: trpv6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.324 TRPV6 Rebecca Foulger gene: TRPV6 was added
gene: TRPV6 was added to Fetal anomalies. 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 Transient Neonatal Hyperparathyroidism; Hyperparathyroidism, transient neonatal, 618188
Review for gene: TRPV6 was set to AMBER
Added comment: New gene:disorder association added to DDG2P in March 2019: Transient Neonatal Hyperparathyroidism. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
Sources: Literature
Fetal anomalies v0.323 COQ4 Anna de Burca Classified gene: COQ4 as Green List (high evidence)
Fetal anomalies v0.323 COQ4 Anna de Burca Gene: coq4 has been classified as Green List (High Evidence).
Fetal anomalies v0.322 COQ4 Anna de Burca Classified gene: COQ4 as Green List (high evidence)
Fetal anomalies v0.322 COQ4 Anna de Burca Gene: coq4 has been classified as Green List (High Evidence).
Fetal anomalies v0.321 SETD5 Anna de Burca Classified gene: SETD5 as Green List (high evidence)
Fetal anomalies v0.321 SETD5 Anna de Burca Added comment: Comment on list classification: Promoted to Green based on July 19th review.
Fetal anomalies v0.321 SETD5 Anna de Burca Gene: setd5 has been classified as Green List (High Evidence).
Fetal anomalies v0.320 VDR Rebecca Foulger commented on gene: VDR: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita reports that difficult to determine if skeletal features present antenatally as often mother has vitamin D deficiency too, so on balance probably should be Green.
Fetal anomalies v0.320 TERT Rebecca Foulger Classified gene: TERT as Red List (low evidence)
Fetal anomalies v0.320 TERT Rebecca Foulger Gene: tert has been classified as Red List (Low Evidence).
Fetal anomalies v0.319 TERT Rebecca Foulger commented on gene: TERT: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita couldn't see any reason for inclusion on this panel, so have demoted rating from Green to Red.
Fetal anomalies v0.319 TGFB1 Rebecca Foulger Classified gene: TGFB1 as Red List (low evidence)
Fetal anomalies v0.319 TGFB1 Rebecca Foulger Gene: tgfb1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.318 TGFB1 Rebecca Foulger commented on gene: TGFB1: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita said seemed unlikely to present in a fetus so demoted rating from Green to Red.
Fetal anomalies v0.318 TUBB2A Rebecca Foulger edited their review of gene: TUBB2A: Changed rating: GREEN
Fetal anomalies v0.318 SOX9 Rebecca Foulger edited their review of gene: SOX9: Changed rating: GREEN
Fetal anomalies v0.318 ROBO1 Rebecca Foulger edited their review of gene: ROBO1: Changed rating: GREEN
Fetal anomalies v0.318 RIT1 Rebecca Foulger edited their review of gene: RIT1: Changed rating: GREEN
Fetal anomalies v0.318 RIPK4 Rebecca Foulger edited their review of gene: RIPK4: Changed rating: GREEN
Fetal anomalies v0.318 PTPN11 Rebecca Foulger edited their review of gene: PTPN11: Changed rating: GREEN
Fetal anomalies v0.318 POMK Rebecca Foulger edited their review of gene: POMK: Changed rating: GREEN
Fetal anomalies v0.318 PIK3R2 Rebecca Foulger edited their review of gene: PIK3R2: Changed rating: GREEN; Changed phenotypes: Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias
Fetal anomalies v0.318 PIK3CA Rebecca Foulger edited their review of gene: PIK3CA: Changed rating: GREEN
Fetal anomalies v0.318 L1CAM Rebecca Foulger edited their review of gene: L1CAM: Changed rating: GREEN
Fetal anomalies v0.318 KIAA1109 Rebecca Foulger edited their review of gene: KIAA1109: Changed rating: GREEN
Fetal anomalies v0.318 IARS Rebecca Foulger edited their review of gene: IARS: Changed rating: GREEN
Fetal anomalies v0.318 HRAS Rebecca Foulger edited their review of gene: HRAS: Changed rating: GREEN
Fetal anomalies v0.318 HNRNPK Rebecca Foulger edited their review of gene: HNRNPK: Changed rating: GREEN
Fetal anomalies v0.318 FOXP3 Rebecca Foulger edited their review of gene: FOXP3: Changed rating: GREEN
Fetal anomalies v0.318 FGFR2 Rebecca Foulger edited their review of gene: FGFR2: Changed rating: GREEN
Fetal anomalies v0.318 FANCB Rebecca Foulger edited their review of gene: FANCB: Changed rating: GREEN
Fetal anomalies v0.318 CYP11A1 Rebecca Foulger edited their review of gene: CYP11A1: Changed rating: GREEN
Fetal anomalies v0.318 ARL13B Rebecca Foulger edited their review of gene: ARL13B: Changed rating: GREEN
Fetal anomalies v0.318 AMER1 Rebecca Foulger edited their review of gene: AMER1: Changed rating: GREEN
Fetal anomalies v0.318 ADAMTS17 Rebecca Foulger edited their review of gene: ADAMTS17: Changed rating: GREEN
Fetal anomalies v0.318 BBS4 Rebecca Foulger edited their review of gene: BBS4: Changed rating: GREEN
Fetal anomalies v0.318 MYH10 Rebecca Foulger Added comment: Comment on mode of inheritance: MYH10 is listed in DDG2P with a 'possible' Disease confidence rating and a monoallelic mode of inheritance/allelic requirement. Mutation consequence summary/MOP: loss of function.
Fetal anomalies v0.318 MYH10 Rebecca Foulger Mode of inheritance for gene: MYH10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.317 MYH10 Rebecca Foulger Added comment: Comment on phenotypes: Added Prenatal imaging phenotype reported in Petrovski et al., 2018 (PMID:30712878) Table 1.
Fetal anomalies v0.317 MYH10 Rebecca Foulger Phenotypes for gene: MYH10 were changed from MYH10-related Multiple congenital anomalies to MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis
Fetal anomalies v0.316 INTU Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:617925/617926.
Fetal anomalies v0.316 INTU Rebecca Foulger Mode of inheritance for gene: INTU was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.315 FRMD4A Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/homozygous variant identified in Normand et al., 2018 (PMID:30266093) and MIM:616819.
Fetal anomalies v0.315 FRMD4A Rebecca Foulger Mode of inheritance for gene: FRMD4A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.314 EIF2B2 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:2603896.
Fetal anomalies v0.314 EIF2B2 Rebecca Foulger Mode of inheritance for gene: EIF2B2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.313 DOK7 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:254300.
Fetal anomalies v0.313 DOK7 Rebecca Foulger Mode of inheritance for gene: DOK7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.312 NDUFAF5 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:618238.
Fetal anomalies v0.312 NDUFAF5 Rebecca Foulger Mode of inheritance for gene: NDUFAF5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.311 DOK7 Rebecca Foulger changed review comment from: This gene was added to the panel following review by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case. Anna de Burca notes that DOK7 is Green on the Arthrogryposis panel - there seems to be quite variable severity but at least one case of arthrogryposis has been reported, so 2 cases if Normand et al included (doesnt decribe phenotype).; to: This gene was added to the panel following review by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case. Anna de Burca notes that DOK7 is Green on the Arthrogryposis panel - there seems to be quite variable severity but at least one case of arthrogryposis has been reported, so 2 cases if Normand et al included (doesn't describe phenotype).
Fetal anomalies v0.311 GATA2 Rebecca Foulger edited their review of gene: GATA2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Sahar Mansour. Outcome of review: Sahar has seen hydrops in Emberger syndrome - Green.; Changed rating: GREEN
Fetal anomalies v0.311 MSH2 Rebecca Foulger edited their review of gene: MSH2: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED
Fetal anomalies v0.311 MSH6 Rebecca Foulger edited their review of gene: MSH6: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED
Fetal anomalies v0.311 MLH1 Rebecca Foulger edited their review of gene: MLH1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED
Fetal anomalies v0.311 ABCD4 Rebecca Foulger commented on gene: ABCD4: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4). Although ABCD4 (CblJ complementation group) is associated with congenital heart disease in PMID:20301503, the Disease confidence rating in Gene2Phenotype is 'probable' with two compound het cases listed in OMIM. Therefore kept rating as Amber awaiting further evidence.
Fetal anomalies v0.311 PTEN Rebecca Foulger edited their review of gene: PTEN: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: No structural features. Demote from Green to Red. ; Changed rating: RED
Fetal anomalies v0.311 USP18 Rebecca Foulger commented on gene: USP18: Kept rating as Amber on advice from Anna de Burca (Genomics England Clinical Team): fetally releavant phenotype but insufficient evidence for Green rating.
Fetal anomalies v0.311 MITF Rebecca Foulger commented on gene: MITF: Kept rating as Amber on advice from Anna de Burca (Genomics England Clinical Team): fetally releavant phenotype but insufficient evidence for Green rating.
Fetal anomalies v0.311 ANO5 Rebecca Foulger edited their review of gene: ANO5: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Melita Irving. Outcome of review: gnathodiaphyseal dysplasia seemed unlikely to present in a fetus, therefore Red.; Changed rating: RED
Fetal anomalies v0.311 RET Rebecca Foulger edited their review of gene: RET: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Moin Saleem (University of Bristol). Outcome of review: Rate as Green.; Changed rating: GREEN
Fetal anomalies v0.311 ABCC8 Rebecca Foulger edited their review of gene: ABCC8: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Karen Temple. Outcome of review: Growth restriction is less marked but queried whether hyperinsulinaemia might cause features that would be picked up on scan. Rate as Red.; Changed rating: RED
Fetal anomalies v0.311 MRPS22 Rebecca Foulger edited their review of gene: MRPS22: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Yates et al study (PMID:28425981) pulled out a pathogenic variant in MRPS22 in a deceased fetal case with Hydrops, CNS malformations and cardiomyopathy picked up on U/S scan. Additional info from OMIM: A boy with oxidative phosphorylation defect in PMID:21189481 who had microcephaly, dysmorphic features etc at birth. 3 siblings in PMID:17873122. Therefore if include Yates et al, there are 3 cases. ; Changed rating: GREEN; Changed publications: 17873122, 21189481
Fetal anomalies v0.311 SCN2A Rebecca Foulger edited their review of gene: SCN2A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: 2 reports of cortical malformations, one with ventriculomegaly: PMID:31204721,28254201. no reports of arthrogryposis. Plus finding in Petrovski et al., 2019 (PMID:30712878).; Changed rating: GREEN; Changed publications: 31204721, 28254201
Fetal anomalies v0.311 RAC1 Rebecca Foulger edited their review of gene: RAC1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Petrovski et al., 2018 (PMID:30712878) plus additional case: Anna de Burca notes: Petrovski case had Dandy-Walker malformation and IUGR. 2 other reported cases: cerebellar anomalies and 2 different cases in same paper had signficant macrocephaly. Therefore 3 cases with structural brain anomalies if Petrovski included.; Changed rating: GREEN
Fetal anomalies v0.311 MYH10 Rebecca Foulger reviewed gene: MYH10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 NDUFAF5 Rebecca Foulger reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: 18940309, 21620786, 30266093; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 INTU Rebecca Foulger reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: ; Publications: 28289185, 29451301; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 FRMD4A Rebecca Foulger reviewed gene: FRMD4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25388005, 30214071; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 EIF2B2 Rebecca Foulger reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28597716; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 DOK7 Rebecca Foulger reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 ACTA1 Rebecca Foulger edited their review of gene: ACTA1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case: Normand doesn't give any details of the clinical presentation. OMIM says the 'severe form' is associated with arthrogryposis. PMID:2724277 describes brothers with a heterozygous variant who presented antenatally with severe polyhydramnios and reduced fetal movements, postnatally were found to have arthrogryoposis. Parents were second cousins so might have been a missed second variant. PMID:11333380 reports 5 cases with heterozygous variants, some of which were born with severe hypotonia although the only antenatal feature was reduced fetal movements. Rate as Green for AD and AR as evident clinical variability.; Changed rating: GREEN; Changed publications: 2724277, 11333380
Fetal anomalies v0.311 TCTN2 Rebecca Foulger edited their review of gene: TCTN2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019. Outcome of review: Rate Green because of diagnostic finding in PAGE study (PMID:30712880) plus additional case. There are 3 reported unrelated families with Joubert syndrome and 3 with Meckel syndrome (all homozygous variants in consanguineous families: PMIDs 21565611, 25118024, 21462283). PMID:25118024 comments that all cases have cerebellar vermis hypoplasia.; Changed rating: GREEN; Changed publications: 21565611, 25118024 & 21462283
Fetal anomalies v0.311 BCL9L Rebecca Foulger reviewed gene: BCL9L: Rating: AMBER; Mode of pathogenicity: ; Publications: 23035047; Phenotypes: Heterotaxy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.311 BRAT1 Rebecca Foulger edited their review of gene: BRAT1: Added comment: Upgraded from Amber to Green following advice from Anna de Burca (Genomics England clinical team). Probable rating in Gene2Phenotype for 'Rigidity and multifocal seizure syndrome, lethal neonatal' but sufficient cases in OMIM for inclusion. (e.g. Saunders et al., 2012, PMID:23035047). Although the main phenotypes are neurological, there are some structural features in some patients.; Changed rating: GREEN; Changed publications: 23035047
Fetal anomalies v0.311 CNOT1 Rebecca Foulger edited their review of gene: CNOT1: Added comment: Upgraded from Amber to Green following advice from Anna de Burca (Genomics England clinical team) and a Fetal Working Group call on July 19th 2019. Phenotypes are relevant to this panel (holoprosencephaly and pancreatic agenesis), sufficient cases (4/5), although phenotype may be variant-specific.; Changed rating: GREEN
Fetal anomalies v0.311 SBDS Rebecca Foulger edited their review of gene: SBDS: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Shwachman-Diamond syndrome: skeletal defects usually develop within first 2 years but PMID:23254443 reports a case with prenatal onset of short limbs. Therefore Green rating is appropriate.; Changed rating: GREEN; Changed publications: 23254443
Fetal anomalies v0.311 TCF20 Rebecca Foulger edited their review of gene: TCF20: Added comment: As agreed with Anna de Burca (Genomics England Clinical team): Keep TCF20 as Amber: the structural phenotypes are variable (and largely mild). All individuals have ID/DD but the accompanying dysmorphic features are inconsistent, and the authors suggest additional genes may be responsible/modifying- some of the patients had variants in additional genes (or the phenotypes might be very very rare).; Changed publications: 30739909, 30819258
Fetal anomalies v0.311 KMT2E Rebecca Foulger edited their review of gene: KMT2E: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team). Outcome of review: Rate KMT2E as Red.; Changed rating: RED
Fetal anomalies v0.311 DDHD2 Rebecca Foulger edited their review of gene: DDHD2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team). Outcome of review: Rate DDHD2 as Red.; Changed rating: RED
Fetal anomalies v0.311 NAGLU Rebecca Foulger commented on gene: NAGLU: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team) and Kate Tatton-Brown. Outcome of review: Hydrops is not a typical feature in MPS type III, and therefore Amber rating is appropriate.
Fetal anomalies v0.311 MANBA Rebecca Foulger commented on gene: MANBA: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- Single case report of neonatal onset seizures & development of hydrocephalus; most cases present later.
Fetal anomalies v0.311 MAN2B1 Rebecca Foulger edited their review of gene: MAN2B1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Red- not structural phenotype.; Changed rating: RED
Fetal anomalies v0.311 MAN1B1 Rebecca Foulger commented on gene: MAN1B1: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- mild dysmorphic phenotype.
Fetal anomalies v0.311 IDUA Rebecca Foulger edited their review of gene: IDUA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green-Umbilical hernia, may cause hydrops.; Changed rating: GREEN
Fetal anomalies v0.311 GM2A Rebecca Foulger commented on gene: GM2A: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- neurological phenotype.
Fetal anomalies v0.311 GAA Rebecca Foulger edited their review of gene: GAA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green-PMID:28657663 has prenatal onset of cardiomyopathy.; Changed rating: GREEN; Changed publications: 28657663
Fetal anomalies v0.311 FUCA1 Rebecca Foulger commented on gene: FUCA1: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- no reports of presenting fetally.
Fetal anomalies v0.311 SUMF1 Rebecca Foulger edited their review of gene: SUMF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green- Severe form has IUGR & micrognathia.; Changed rating: GREEN
Fetal anomalies v0.311 SGSH Rebecca Foulger commented on gene: SGSH: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- no reports of presenting fetally.
Fetal anomalies v0.311 TTC19 Rebecca Foulger edited their review of gene: TTC19: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 TMEM70 Rebecca Foulger edited their review of gene: TMEM70: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED; Changed publications: 18953340
Fetal anomalies v0.311 TMEM126B Rebecca Foulger edited their review of gene: TMEM126B: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 TK2 Rebecca Foulger edited their review of gene: TK2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 SURF1 Rebecca Foulger edited their review of gene: SURF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 SLC25A26 Rebecca Foulger edited their review of gene: SLC25A26: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 SDHAF1 Rebecca Foulger edited their review of gene: SDHAF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 SDHA Rebecca Foulger edited their review of gene: SDHA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 SCO2 Rebecca Foulger edited their review of gene: SCO2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on the Fetal anomalies panel as a Green gene. Mitochondrial disorder, and PMID:15210538 show early onset cardiomyopathy and two pregnancy losses.; Changed rating: GREEN; Changed publications: 15210538
Fetal anomalies v0.311 SCO1 Rebecca Foulger edited their review of gene: SCO1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 POLG Rebecca Foulger edited their review of gene: POLG: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 PNPT1 Rebecca Foulger edited their review of gene: PNPT1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 PDSS2 Rebecca Foulger edited their review of gene: PDSS2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 PDHX Rebecca Foulger edited their review of gene: PDHX: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 PC Rebecca Foulger edited their review of gene: PC: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NFU1 Rebecca Foulger edited their review of gene: NFU1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFV1 Rebecca Foulger edited their review of gene: NDUFV1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFS8 Rebecca Foulger edited their review of gene: NDUFS8: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFS7 Rebecca Foulger edited their review of gene: NDUFS7: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFS4 Rebecca Foulger edited their review of gene: NDUFS4: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFS1 Rebecca Foulger edited their review of gene: NDUFS1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFA1 Rebecca Foulger edited their review of gene: NDUFA1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 MT-TP Rebecca Foulger edited their review of gene: MT-TP: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 MPV17 Rebecca Foulger edited their review of gene: MPV17: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 LRPPRC Rebecca Foulger edited their review of gene: LRPPRC: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 FARS2 Rebecca Foulger edited their review of gene: FARS2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 DLD Rebecca Foulger edited their review of gene: DLD: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 COX6B1 Rebecca Foulger edited their review of gene: COX6B1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 COX15 Rebecca Foulger edited their review of gene: COX15: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 COX10 Rebecca Foulger edited their review of gene: COX10: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 COQ8A Rebecca Foulger edited their review of gene: COQ8A: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 COQ2 Rebecca Foulger edited their review of gene: COQ2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED; Changed publications: 23816342
Fetal anomalies v0.311 BCS1L Rebecca Foulger edited their review of gene: BCS1L: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on the Fetal anomalies panel as a Green gene. Mitochondrial disorder, and severe IUGR in GRACILE syndrome (MIM: 603358).; Changed rating: GREEN; Changed phenotypes: GRACILE syndrome, 603358
Fetal anomalies v0.311 SLC39A13 Rebecca Foulger commented on gene: SLC39A13: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: spondylodysplastic EDS phenotype. Keep SLC39A13 gene rating as Red.
Fetal anomalies v0.311 SMAD3 Rebecca Foulger edited their review of gene: SMAD3: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include SMAD3 as Green to be consistent with including TGFBR1. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 CYP1B1 Rebecca Foulger edited their review of gene: CYP1B1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although we wouldn't include Peters anomaly alone on the panel, you can get cataracts with Peters anomaly and therefore include PAX6 and CYP1B1 on this basis.; Changed rating: GREEN
Fetal anomalies v0.311 SCN4A Rebecca Foulger edited their review of gene: SCN4A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Green on arthrogryposis panel, and phenotypes include polyhydramnios, arthrogryposis (variable penetrance). Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 DNMT3A Rebecca Foulger edited their review of gene: DNMT3A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: ASD, umbilical hernia, overgrowth. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 NDP Rebecca Foulger edited their review of gene: NDP: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on basis of PMID:30125416 (Prenatal diagnosis of Norrie disease based on ultrasound findings): Dubcus et al., 2018 describe a case of Norrie disease diagnosed based on ocular defects in the fetus on an ultrasound scan at 31+5 weeks gestation, and confirmed by identification of a de novo c.38T>C variant (p.Leu13Pro) in NDP. The authors say that this is the first case in which Norrie disease was diagnosed based on prenatal imaging only.; Changed rating: GREEN; Changed publications: 30125416
Fetal anomalies v0.311 SMPD1 Rebecca Foulger edited their review of gene: SMPD1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Green on the Fetal hydrops panel. Promote to Green on the Fetal anomalies panel. Mentioned in review of causes of Non immune hydrops.; Changed rating: GREEN
Fetal anomalies v0.311 NPHP4 Rebecca Foulger edited their review of gene: NPHP4: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes hyperechoic kidneys. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 DPAGT1 Rebecca Foulger edited their review of gene: DPAGT1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataract, microcephaly, arthrogryposis. Therefore promote DPAGT1 from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 FKTN Rebecca Foulger edited their review of gene: FKTN: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: muscle-eye-brain disease: include FKTN for consistency. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 HGSNAT Rebecca Foulger edited their review of gene: HGSNAT: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team) and Kate Tatton-Brown. Outcome of review: Hydrops is not a typical feature in MPS type III, and therefore Amber rating is appropriate.; Changed rating: AMBER
Fetal anomalies v0.311 PMS2 Rebecca Foulger commented on gene: PMS2: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.
Fetal anomalies v0.311 MMACHC Rebecca Foulger edited their review of gene: MMACHC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4).; Changed rating: GREEN; Changed publications: 20301503
Fetal anomalies v0.311 LMBRD1 Rebecca Foulger edited their review of gene: LMBRD1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4). Plus Anna de Burca notes that in PMID:19136951: 4/12 cases had congenital heart disease.; Changed rating: GREEN; Changed publications: 20301503, 19136951
Fetal anomalies v0.311 MMADHC Rebecca Foulger edited their review of gene: MMADHC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Hydrocephalus- Table 4).; Changed rating: GREEN; Changed publications: 20301503
Fetal anomalies v0.311 HCFC1 Rebecca Foulger edited their review of gene: HCFC1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4).; Changed rating: GREEN; Changed publications: 20301503
Fetal anomalies v0.311 SETD5 Rebecca Foulger edited their review of gene: SETD5: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although the micrognathia associated with SETD5 variants is not severe, there are quite a few reports of congenital heart defects and a few other structural phenotypes including 2 unrelated families with polydactyly. Therefore promote from Red to Green.; Changed rating: GREEN; Changed publications: 28881385, 27375234
Fetal anomalies v0.311 GALC Rebecca Foulger edited their review of gene: GALC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). GALC falls into the early onset leukodystrophy category and should be included as Green on the basis of the possibility that something which could present at 3 months could conceivably present at -3 months.; Changed rating: GREEN
Fetal anomalies v0.311 ROGDI Rebecca Foulger edited their review of gene: ROGDI: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: May include structural features. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 DNMT3B Rebecca Foulger edited their review of gene: DNMT3B: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotypes include micrognathia and microcephaly. Therefore upgrade DNMT3B from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 TUBB4A Rebecca Foulger edited their review of gene: TUBB4A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Infantile onset hypomyelination with atrophy of basal ganglia & cerebellum- promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 FTL Rebecca Foulger edited their review of gene: FTL: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype can include congenital cataracts. Therefore FTL was upgraded from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 GCDH Rebecca Foulger edited their review of gene: GCDH: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Phenotypes include macrocephaly, structural brain- usually present with metabolic crises. Therefore upgrade from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 GALK1 Rebecca Foulger edited their review of gene: GALK1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataracts. Therefore GALK1 was upgraded from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 FH Rebecca Foulger edited their review of gene: FH: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Discussions and outcome of review: FH is biallelic for 'Fumarase deficiency', and monoallelic for 'Leiomyomatosis and renal cell cancer'. Fumarase deficiency can sometimes have prenatal onset: polyhydramnios & brain malformations. Include for biallelic inheritance only to avoid risk of incidental cancer finding. Therefore FH was upgraded from Red to Green.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.311 GALE Rebecca Foulger edited their review of gene: GALE: Added comment: This gene was reviewed at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataracts. Although unclear if cataracts are congenital, include on panel. Therefore GALE was upgraded from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 TBCE Rebecca Foulger edited their review of gene: TBCE: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Promote TBCE from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.311 WRAP53 Rebecca Foulger edited their review of gene: WRAP53: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN
Fetal anomalies v0.311 LAMP2 Rebecca Foulger commented on gene: LAMP2: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Edward Blair (Oxford) confirmed that LAMP2 should remain as Red: cardiomyopathy not detected in utero.
Fetal anomalies v0.311 FOXG1 Rebecca Foulger edited their review of gene: FOXG1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: May include structural features. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 PAX8 Rebecca Foulger edited their review of gene: PAX8: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN
Fetal anomalies v0.311 UROS Rebecca Foulger edited their review of gene: UROS: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: macroglossia, umbilical hernia. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 PAX6 Rebecca Foulger edited their review of gene: PAX6: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although we wouldn't include Peters anomaly alone on the panel, you can get cataracts with Peters anomaly and therefore include PAX6 and CYP1B1 on this basis.; Changed rating: GREEN
Fetal anomalies v0.311 BFSP2 Rebecca Foulger edited their review of gene: BFSP2: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Can be associated with congenital cataract- promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 HDAC4 Rebecca Foulger edited their review of gene: HDAC4: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Keep rating as Red.; Changed publications: 24715439, 23188045
Fetal anomalies v0.311 POLR3B Rebecca Foulger edited their review of gene: POLR3B: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Early childhood onset leukodystrophy- promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 SLC25A38 Rebecca Foulger edited their review of gene: SLC25A38: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN
Fetal anomalies v0.310 MSH2 Rebecca Foulger Source Expert Review Red was added to MSH2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MSH6 Rebecca Foulger Source Expert Review Red was added to MSH6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MLH1 Rebecca Foulger Source Expert Review Red was added to MLH1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 PTEN Rebecca Foulger Source Expert Review Red was added to PTEN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 ANO5 Rebecca Foulger Source Expert Review Red was added to ANO5.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.310 RET Rebecca Foulger Source Expert Review Green was added to RET.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 ABCC8 Rebecca Foulger Source Expert Review Red was added to ABCC8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MRPS22 Rebecca Foulger Source Expert Review Green was added to MRPS22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 SCN2A Rebecca Foulger Source Expert Review Green was added to SCN2A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 RAC1 Rebecca Foulger Source Expert Review Green was added to RAC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 MYH10 Rebecca Foulger gene: MYH10 was added
gene: MYH10 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH10 were set to 30712878
Phenotypes for gene: MYH10 were set to MYH10-related Multiple congenital anomalies
Fetal anomalies v0.310 NDUFAF5 Rebecca Foulger gene: NDUFAF5 was added
gene: NDUFAF5 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF5 were set to 18940309; 30266093; 21620786
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 618238
Fetal anomalies v0.310 INTU Rebecca Foulger gene: INTU was added
gene: INTU was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTU were set to 28289185; 30266093; 29451301
Phenotypes for gene: INTU were set to ?Short-rib thoracic dysplasia 20 with polydactyly, 617925
Fetal anomalies v0.310 FRMD4A Rebecca Foulger gene: FRMD4A was added
gene: FRMD4A was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRMD4A were set to 30266093; 25388005; 30214071
Phenotypes for gene: FRMD4A were set to ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
Fetal anomalies v0.310 EIF2B2 Rebecca Foulger gene: EIF2B2 was added
gene: EIF2B2 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B2 were set to 30266093; 28597716
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896
Fetal anomalies v0.310 DOK7 Rebecca Foulger gene: DOK7 was added
gene: DOK7 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOK7 were set to 30266093
Phenotypes for gene: DOK7 were set to ?Fetal akinesia deformation sequence 3, 618389; Myasthenic syndrome, congenital, 10, 254300
Fetal anomalies v0.310 ACTA1 Rebecca Foulger Source Expert Review Green was added to ACTA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 TCTN2 Rebecca Foulger Source Expert Review Green was added to TCTN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 BCL9L Rebecca Foulger gene: BCL9L was added
gene: BCL9L was added to Fetal anomalies. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCL9L were set to 23035047
Phenotypes for gene: BCL9L were set to Heterotaxy
Fetal anomalies v0.310 BRAT1 Rebecca Foulger Source Expert Review Green was added to BRAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 CNOT1 Rebecca Foulger Source Expert Review Green was added to CNOT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 SBDS Rebecca Foulger Source Expert Review Green was added to SBDS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 TCF20 Rebecca Foulger Source Expert Review Amber was added to TCF20.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 KMT2E Rebecca Foulger Source Expert Review Red was added to KMT2E.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 DDHD2 Rebecca Foulger Source Expert Review Red was added to DDHD2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NAGLU Rebecca Foulger Source Expert Review Amber was added to NAGLU.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 MANBA Rebecca Foulger Source Expert Review Amber was added to MANBA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 MAN2B1 Rebecca Foulger Source Expert Review Red was added to MAN2B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MAN1B1 Rebecca Foulger Source Expert Review Amber was added to MAN1B1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 GM2A Rebecca Foulger Source Expert Review Amber was added to GM2A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 FUCA1 Rebecca Foulger Source Expert Review Amber was added to FUCA1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 SGSH Rebecca Foulger Source Expert Review Amber was added to SGSH.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 TTC19 Rebecca Foulger Source Expert Review Red was added to TTC19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 TMEM70 Rebecca Foulger Source Expert Review Red was added to TMEM70.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 TMEM126B Rebecca Foulger Source Expert Review Red was added to TMEM126B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 TK2 Rebecca Foulger Source Expert Review Red was added to TK2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 SURF1 Rebecca Foulger Source Expert Review Red was added to SURF1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 SLC25A26 Rebecca Foulger Source Expert Review Red was added to SLC25A26.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 SDHAF1 Rebecca Foulger Source Expert Review Red was added to SDHAF1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 SDHA Rebecca Foulger Source Expert Review Red was added to SDHA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 SCO1 Rebecca Foulger Source Expert Review Red was added to SCO1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 POLG Rebecca Foulger Source Expert Review Red was added to POLG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 PNPT1 Rebecca Foulger Source Expert Review Red was added to PNPT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 PDSS2 Rebecca Foulger Source Expert Review Red was added to PDSS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 PDHX Rebecca Foulger Source Expert Review Red was added to PDHX.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 PC Rebecca Foulger Source Expert Review Red was added to PC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NFU1 Rebecca Foulger Source Expert Review Red was added to NFU1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFV1 Rebecca Foulger Source Expert Review Red was added to NDUFV1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFS8 Rebecca Foulger Source Expert Review Red was added to NDUFS8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFS7 Rebecca Foulger Source Expert Review Red was added to NDUFS7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFS4 Rebecca Foulger Source Expert Review Red was added to NDUFS4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFS1 Rebecca Foulger Source Expert Review Red was added to NDUFS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFA1 Rebecca Foulger Source Expert Review Red was added to NDUFA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MT-TP Rebecca Foulger Source Expert Review Red was added to MT-TP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MPV17 Rebecca Foulger Source Expert Review Red was added to MPV17.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 LRPPRC Rebecca Foulger Source Expert Review Red was added to LRPPRC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 FARS2 Rebecca Foulger Source Expert Review Red was added to FARS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 DLD Rebecca Foulger Source Expert Review Red was added to DLD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 COX6B1 Rebecca Foulger Source Expert Review Red was added to COX6B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 COX15 Rebecca Foulger Source Expert Review Red was added to COX15.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 COX10 Rebecca Foulger Source Expert Review Red was added to COX10.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 COQ8A Rebecca Foulger Source Expert Review Red was added to COQ8A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 COQ2 Rebecca Foulger Source Expert Review Red was added to COQ2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 BCS1L Rebecca Foulger Added phenotypes GRACILE syndrome, 603358 for gene: BCS1L
Fetal anomalies v0.310 SMAD3 Rebecca Foulger Source Expert Review Green was added to SMAD3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 CYP1B1 Rebecca Foulger Source Expert Review Green was added to CYP1B1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 SCN4A Rebecca Foulger Source Expert Review Green was added to SCN4A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 DNMT3A Rebecca Foulger Source Expert Review Green was added to DNMT3A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 NDP Rebecca Foulger Source Expert Review Green was added to NDP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 SMPD1 Rebecca Foulger Source Expert Review Green was added to SMPD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 NPHP4 Rebecca Foulger Source Expert Review Green was added to NPHP4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 DPAGT1 Rebecca Foulger Source Expert Review Green was added to DPAGT1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 FKTN Rebecca Foulger Source Expert Review Green was added to FKTN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 HGSNAT Rebecca Foulger Source Expert Review Amber was added to HGSNAT.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 MMACHC Rebecca Foulger Source Expert Review Green was added to MMACHC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 LMBRD1 Rebecca Foulger Source Expert Review Green was added to LMBRD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 MMADHC Rebecca Foulger Source Expert Review Green was added to MMADHC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 HCFC1 Rebecca Foulger Source Expert Review Green was added to HCFC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 ROGDI Rebecca Foulger Source Expert Review Green was added to ROGDI.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 DNMT3B Rebecca Foulger Source Expert Review Green was added to DNMT3B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 TUBB4A Rebecca Foulger Source Expert Review Green was added to TUBB4A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 FTL Rebecca Foulger Source Expert Review Green was added to FTL.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 GCDH Rebecca Foulger Source Expert Review Green was added to GCDH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 GALK1 Rebecca Foulger Source Expert Review Green was added to GALK1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 FH Rebecca Foulger Source Expert Review Green was added to FH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 GALE Rebecca Foulger Source Expert Review Green was added to GALE.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 TBCE Rebecca Foulger Source Expert Review Green was added to TBCE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 WRAP53 Rebecca Foulger Source Expert Review Green was added to WRAP53.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 FOXG1 Rebecca Foulger Source Expert Review Green was added to FOXG1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 PAX8 Rebecca Foulger Source Expert Review Green was added to PAX8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 UROS Rebecca Foulger Source Expert Review Green was added to UROS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 PAX6 Rebecca Foulger Source Expert Review Green was added to PAX6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 BFSP2 Rebecca Foulger Source Expert Review Green was added to BFSP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 POLR3B Rebecca Foulger Source Expert Review Green was added to POLR3B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 SLC25A38 Rebecca Foulger Source Expert Review Green was added to SLC25A38.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.309 ALPL Rebecca Foulger Deleted their comment
Fetal anomalies v0.309 ALPL Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following advice by Anna de Burca (Genomics England clinical team). AD variant reported in Chandler et al (PMID:29595812) for Hypophosphatasia phenotype. OMIM lists AR inheritance for Hypophosphatasia, infantile/Hypophosphatasia, childhood. And AD/AR for Hypophosphatasia, adult and Odontohypophosphatasia.
Fetal anomalies v0.309 ALPL Rebecca Foulger Mode of inheritance for gene: ALPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.308 ALPL Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following advice by Anna de Burca (Genomics England clinical team). AD variant reported in Chandler et al (PMID:29595812) for Hypophosphatasia phenotype. OMIM lists AR inheritance for Hypophosphatasia, infantile/Hypophosphatasia, childhood. And AD/AR for Hypophosphatasia, adult and Odontohypophosphatasia.
Fetal anomalies v0.308 ALPL Rebecca Foulger Mode of inheritance for gene: ALPL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.307 ACTA1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following review from Anna de Burca.
Fetal anomalies v0.307 ACTA1 Rebecca Foulger Mode of inheritance for gene: ACTA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.306 NDP Rebecca Foulger Publications for gene: NDP were set to
Fetal anomalies v0.305 NDP Rhiannon Mellis reviewed gene: NDP: Rating: AMBER; Mode of pathogenicity: ; Publications: 30125416; Phenotypes: Norrie disease; Mode of inheritance:
Fetal anomalies v0.305 BRCA2 Lyn Chitty reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.304 IARS Rebecca Foulger Phenotypes for gene: IARS were changed from Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
Fetal anomalies v0.303 IARS Rebecca Foulger Publications for gene: IARS were set to
Fetal anomalies v0.302 IARS Rebecca Foulger Classified gene: IARS as Green List (high evidence)
Fetal anomalies v0.302 IARS Rebecca Foulger Added comment: Comment on list classification: Promoted IARS from Amber to Green on advice from Genomics England clinical team. Although the DD-G2P Disease confidence rating is 'probable' for 'Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy', there are sufficient cases from the literature to support Green rating. As reviewed by Louise Daugherty on the 'Intellectual disability' panel: Kopajtich et al., 2016 PMID:27426735 reported 3 unrelated patients with a multisystem disorder characterized by intrauterine and postnatal growth retardation, including small head circumference (-3 to -5 SD), hypotonia and delayed psychomotor development with variable severity of intellectual disability.
Fetal anomalies v0.302 IARS Rebecca Foulger Gene: iars has been classified as Green List (High Evidence).
Fetal anomalies v0.301 GBE1 Rebecca Foulger Publications for gene: GBE1 were set to
Fetal anomalies v0.300 MYO7A Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Nothing structural that would present in a fetus. Action taken: Demoted KIT gene rating from Amber to Red.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Nothing structural that would present in a fetus. Action taken: Demoted MYO7A gene rating from Amber to Red.
Fetal anomalies v0.299 GBE1 Anna de Burca Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV; Polyglucosan body disease, adult form to Glycogen storage disease IV; Polyglucosan body disease, adult form; Fetal akinesia deformation sequence
Fetal anomalies v0.298 GBE1 Anna de Burca reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620786; Phenotypes: Fetal akinesia deformation sequence; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.298 COQ4 Anna de Burca reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25658047; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.298 DOLK Rebecca Foulger Mode of pathogenicity for gene: DOLK was changed from to Other
Fetal anomalies v0.297 DOLK Rebecca Foulger Publications for gene: DOLK were set to
Fetal anomalies v0.296 PDHB Anna de Burca gene: PDHB was added
gene: PDHB was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHB were set to 26865159
Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency
Review for gene: PDHB was set to AMBER
Added comment: PMID:26865159 reports a fetus with homozygous variants in PDHB where there was antenatal presentation of pyruvate dehydrogenase deficiency associated with craniofacial features and structural neurological defects.
Sources: Literature
Fetal anomalies v0.295 PDHA1 Anna de Burca reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26865159; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.295 KIAA1109 Rebecca Foulger Publications for gene: KIAA1109 were set to 30485398; 29290337
Fetal anomalies v0.294 KIAA1109 Rebecca Foulger Added comment: Comment on mode of pathogenicity: The Mode of pathogenicity recorded in Gene2Phenotype for the disorder 'Brain atrophy, Dandy Walker and Contractures' is: All missense/in frame. However, as summarised in PMID:29290337 (Gueneau et al., 2018),
case subjects compatible with life carry missense variants but many of the more severely affected cases harbor homozygous or compound het truncating alleles. Therefore changed the Mode of pathogenicity back to default so LOF variants are captured.
Fetal anomalies v0.294 KIAA1109 Rebecca Foulger Mode of pathogenicity for gene: KIAA1109 was changed from Other to None
Fetal anomalies v0.293 KIAA1109 Rebecca Foulger Classified gene: KIAA1109 as Green List (high evidence)
Fetal anomalies v0.293 KIAA1109 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after agreement from Anna de Burca (Genomics England clinical team). KIAA1109 is Green on the 'Hydrocephalus' and 'Arthrogryposis' panels. Sufficient cases in OMIM to support association with Alkuraya-Kucinskas syndrome (MIM:617822) which includes arthrogryposis and brain abnormalities: severe cases are incompatible with life. Multiple ultrasounds abnormalities reported in PMIDs 30485398 and 29290337.
Fetal anomalies v0.293 KIAA1109 Rebecca Foulger Gene: kiaa1109 has been classified as Green List (High Evidence).
Fetal anomalies v0.292 KIAA1109 Rebecca Foulger Publications for gene: KIAA1109 were set to 30485398
Fetal anomalies v0.291 KIAA1109 Rebecca Foulger Phenotypes for gene: KIAA1109 were changed from Brain atrophy, Dandy Walker and Contractures to Brain atrophy, Dandy Walker and Contractures; Alkuraya-Kucinskas syndrome, 617822
Fetal anomalies v0.290 KIAA1109 Rebecca Foulger commented on gene: KIAA1109: PMID:30485398: Filatova et al. 2019 report a Russian family with fetal anomalies detected upon ultrasound scans of three pregnancies. The first pregnancy resulted in a miscarriage. The second and third pregnancies were terminated because of ultrasound fetal abnormalities. In the third pregnancy, anomalies included bilateral ventriculomegaly, arthrogryposis (radial clubhand, bilateral clubfoot, flexed deformity of hip, knee and ankle joints), bilateral pyelectasis, increased thickness of the nuchal‐fold, hypoplastic and low set ears- Sanger sequencing revealed that the polymalformative fetus had compound heterozygous KIAA1109 variants. One of the dichorionic twins in the 4th pregnancy had similar phenotype and biallelic KIAA1109 variants (the healthy twin had only one variant c.1932‐3A>G).
Fetal anomalies v0.290 KIAA1109 Rebecca Foulger Mode of pathogenicity for gene: KIAA1109 was changed from to Other
Fetal anomalies v0.289 KIAA1109 Rebecca Foulger Publications for gene: KIAA1109 were set to
Fetal anomalies v0.288 TCF20 Eleanor Williams Added comment: Comment on phenotypes: updated as phenotype added to OMIM in May 2019
Fetal anomalies v0.288 TCF20 Eleanor Williams Phenotypes for gene: TCF20 were changed from TCF20 syndrome to TCF20 syndrome; Developmental delay with variable intellectual impairment and behavioral abnormalities 618430
Fetal anomalies v0.287 PKD1 Eleanor Williams Added comment: Comment on mode of inheritance: updating MOI as biallelic cases have a more severe form of the disease
Fetal anomalies v0.287 PKD1 Eleanor Williams Mode of inheritance for gene: PKD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.285 COL4A3BP Louise Daugherty commented on gene: COL4A3BP
Fetal anomalies v0.285 COL4A3BP Louise Daugherty Tag new-gene-name tag was added to gene: COL4A3BP.
Fetal anomalies v0.284 CNOT1 Rebecca Foulger commented on gene: CNOT1: Keep as amber and added watchlist tag on advice from Helen Brittain (Genomics England Clinical Fellow);this might be a specific variant-related phenotype, and there is insufficient evidence for the gene in general at present.
Fetal anomalies v0.284 POMK Rebecca Foulger Marked gene: POMK as ready
Fetal anomalies v0.284 POMK Rebecca Foulger Gene: pomk has been classified as Green List (High Evidence).
Fetal anomalies v0.284 COG4 Rebecca Foulger Marked gene: COG4 as ready
Fetal anomalies v0.284 COG4 Rebecca Foulger Gene: cog4 has been classified as Green List (High Evidence).
Fetal anomalies v0.284 HNRNPK Rebecca Foulger Marked gene: HNRNPK as ready
Fetal anomalies v0.284 HNRNPK Rebecca Foulger Added comment: Comment when marking as ready: Anna de Burca (Genomics England clinical team) confirmed that Green rating was correct for HNRNPK.
Fetal anomalies v0.284 HNRNPK Rebecca Foulger Gene: hnrnpk has been classified as Green List (High Evidence).
Fetal anomalies v0.284 MYRF Rebecca Foulger Classified gene: MYRF as Green List (high evidence)
Fetal anomalies v0.284 MYRF Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. MYRF gene was added to the panel and reviewed by Julia Baptista. Sufficient cases to support MYRF variants causing Cardiac-urogenital syndrome (MIM:618280) from Pinz et al 2018 (PMID:29446546), Chitayat et al., (PMID:30070761), Qi et al.,2018 (PMID:30532227) and Rossetti et al., 2019 (PMID: 31069960). The phenotype is fetally-relevant (includes congenital diaphragmatic hernia/CDH, genital defects and cardiac defects) with multiple papers reporting detection in-utero: In both patients identified in Pinz et al 2018, anomalies were detected by ultrasound at 20 weeks gestation: mesocardia without other signs of heterotaxy (Patient 1), and a complex congenital heart defect with pericardial effusion (Patient 2). Chitayat et al., report a fetus with a novel de novo LOF variant in MYRF and a hypoplastic left heart and female external genitalia. In Rossetti et al., 2019, cardiac malformation and/or CDH was detected on a prenatal ultrasound.
Fetal anomalies v0.284 MYRF Rebecca Foulger Gene: myrf has been classified as Green List (High Evidence).
Fetal anomalies v0.283 MYRF Rebecca Foulger Added comment: Comment on publications: PMID:30985895 (Hamanaka et al., 2019) also report (in an enrichment study plus an independent cohort) that MYRF haploinsufficiencey causes disorders of sex development.
Fetal anomalies v0.283 MYRF Rebecca Foulger Publications for gene: MYRF were set to 30532227; 30985895; 31069960; 30070761; 29446546
Fetal anomalies v0.282 MYRF Rebecca Foulger Mode of inheritance for gene: MYRF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.281 MYRF Rebecca Foulger Phenotypes for gene: MYRF were changed from congenital diaphragmatic hernia, cardiac defect, disorders of sexual development to Cardiac-urogenital syndrome, 618280; Congenital diaphragmatic hernia (CDH); Disorders of sex development (DSD)
Fetal anomalies v0.280 MYRF Rebecca Foulger Publications for gene: MYRF were set to PMID: 30532227; 30985895; 31069960; 30070761; 29446546 )
Fetal anomalies v0.279 H19 Rebecca Foulger Classified gene: H19 as Red List (low evidence)
Fetal anomalies v0.279 H19 Rebecca Foulger Added comment: Comment on list classification: Demoted gene from Green to Red based on group clinical review, and confirmation from Richard Scott.
Fetal anomalies v0.279 H19 Rebecca Foulger Gene: h19 has been classified as Red List (Low Evidence).
Fetal anomalies v0.278 H19 Rebecca Foulger commented on gene: H19: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in Spring 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Epigenetic. Action taken: Demoted H19 gene rating from Green to Red. Additional notes from clinical review: Relevant variants are in the upstream methylation region rather than the coding region, and therefore won't be detected on the exome.
Fetal anomalies v0.278 H19 Richard Scott reviewed gene: H19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.277 PKD1 Rebecca Foulger Added comment: Comment on mode of inheritance: Although not yet listed in DD-Gene2Phenotype, PKD1 is listed in OMIM with AD inheritance for Polycystic kidney disease 1, 173900. Monoallelic MOI was also listed in the original PAGE Additional gene list. However the external review and the two cited papers support both AD and AR inheritance for polycystic kidney disease (PKD). PMID:23624871 note that recessive polycystic kidney disease (ARPKD) frequently presents antenatally or in the neonatal period with severe renal involvement.
Fetal anomalies v0.277 PKD1 Rebecca Foulger Mode of inheritance for gene: PKD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.276 PKD1 Rebecca Foulger commented on gene: PKD1: PMID:23624871 (Gilbert et al., 2013) was added as a publication by Julia Baptista. The authors describe a male fetus with renal enlargement and oligohydramnios diagnosed at 27 weeks of gestation. This presentation resembled autosomal recessive PKD (ARPKD). Genetic analysis revealed a heterozygous truncating variant (p.Ser2788fs) in PKD1 inherited from the mother, and three unreported PKD1 variants inherited from the father. Although the authors don't exclude the possibility of a pathogenic variant in an additional gene, the paternally-inherited alleles support biallelic PKD1 alleles causing the fetal kidney anomalies.
Fetal anomalies v0.276 PKD1 Rebecca Foulger commented on gene: PKD1: PMID:20558538 (Vujic et al., 2010) was added as a publication by Julia Baptista. The authors describe two pedigrees each with two patients with onset of polycystic kidney disease in-utero. Mutation analysis suggested that both families inherited, in trans, two incompletely penetrant PKD1 alleles, thus supporting autosomal recessive PKD.
Fetal anomalies v0.276 PKD1 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated the MOI from monoallelic to monoallelic AND biallelic, to match the review of Julia Baptista and evidence provided in PMID:20558538 (Vujic et al., 2010) and PMID:23624871 (Gilbert et al., 2013).
Fetal anomalies v0.276 PKD1 Rebecca Foulger Mode of inheritance for gene: PKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.275 PKD1 Rebecca Foulger Phenotypes for gene: PKD1 were changed from Polycystic kidney disease 173900 to Polycystic kidney disease, 173900; Autosomal recessive polycystic kidney disease (ARPKD); Autosomal dominant polycystic kidney disease (ADPKD)
Fetal anomalies v0.274 PKD1 Rebecca Foulger Publications for gene: PKD1 were set to
Fetal anomalies v0.274 PKD1 Rebecca Foulger Publications for gene: PKD1 were set to
Fetal anomalies v0.273 MYRF Julia Baptista gene: MYRF was added
gene: MYRF was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYRF were set to PMID: 30532227; 30985895; 31069960; 30070761; 29446546 )
Phenotypes for gene: MYRF were set to congenital diaphragmatic hernia, cardiac defect, disorders of sexual development
Review for gene: MYRF was set to GREEN
Added comment: Pinz et al. 2018 reported MYRF de novo pathogenic variants in 2 unrelated male infants with cardiac-urogenital syndrome (PMID: 29446546)
Chitayat et al. (2018) reported one additional male fetus with complex congenital heart disease and severe urogenital malformations (PMID: 30070761).
Qi et al. 2018 identified 7 patients from 6 families with heterozygous MYRF variants. All of the patients had cardiac defects. Urogenital defects were present in all 4 patients who were examined (PMID: 30532227).
Rosetti et al 2019 described de novo heterozygous MYRF variants in three males. Congenital heart disease was presnet in 2/3 and diaphragmatic hernia in 2/3.
Sources: Expert Review, Literature
Fetal anomalies v0.273 PKD1 Julia Baptista reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20558538, 23624871; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.273 ZFP57 Anna de Burca reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.273 SOX9 Rebecca Foulger edited their review of gene: SOX9: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous variant in SOX9 in a case where the main ultrasound finding was Shortened and bowed long bones, talipes (Table 1).; Changed rating: AMBER; Changed phenotypes: Shortened and bowed long bones, talipes
Fetal anomalies v0.273 L1CAM Rebecca Foulger edited their review of gene: L1CAM: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous variant in L1CAM in a case where the main ultrasound finding was Hydrocephalus consistent with aqueductal stenosis (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrocephalus consistent with aqueductal stenosis
Fetal anomalies v0.273 PIK3R2 Rebecca Foulger edited their review of gene: PIK3R2: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo likely-pathogenic variant in PIK3R2 in a case where the main ultrasound finding was Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias (Table 1).; Changed rating: AMBER; Changed phenotypes: Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias
Fetal anomalies v0.273 RIT1 Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo variant in RIT1 in a case where the main ultrasound finding was Hydrops, CNS malformation, congenital heart defect (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops, CNS malformations, congenital heart defect
Fetal anomalies v0.273 AMER1 Rebecca Foulger edited their review of gene: AMER1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous variant in AMER1 in a case where the main ultrasound finding was Macrocephaly, cleft lip and palate, congenital heart defect, bifid thumb, CNS malformation, hydrocephalus (Table 1).; Changed rating: AMBER; Changed phenotypes: Macrocephaly, cleft lip and palate, congenital heart defect, bifid thumb, CNS malformation, hydrocephalu
Fetal anomalies v0.273 FANCB Rebecca Foulger edited their review of gene: FANCB: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous de novo variant in FANCB in a case where the main ultrasound finding was Ventriculomegaly, cardiac left-axis deviation, absent radii (Table 1).; Changed rating: AMBER; Changed phenotypes: Ventriculomegaly, cardiac left-axis deviation, absent radii
Fetal anomalies v0.273 CYP11A1 Rebecca Foulger edited their review of gene: CYP11A1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a homozygous variant in CYP11A1 in a case where the main ultrasound finding was Hydrops, cardiomegaly (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops, cardiomegaly
Fetal anomalies v0.273 FLNA Rebecca Foulger edited their review of gene: FLNA: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizgyous likely-pathogenic variant in FLNA in a case where the main ultrasound finding was CNS malformations (Table 1). A heterozygous variant in PTPN11 was also reported, which the authors classify as a Possible result.; Changed rating: AMBER; Changed phenotypes: CNS malformations
Fetal anomalies v0.273 MRPS22 Rebecca Foulger edited their review of gene: MRPS22: Added comment: Support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified compound heterozygous variants in MRPS22 in a case where the main ultrasound finding was Hydrops, CNS malformations, cardiomyopathy (Table 1).; Changed phenotypes: Hydrops, CNS malformations, cardiomyopathy
Fetal anomalies v0.273 FOXP3 Rebecca Foulger edited their review of gene: FOXP3: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous variant in FOXP3 in a case where the main ultrasound finding was Hydrops, contractures, echogenic kidney, placentalmegaly (Table 1). An additional variant in COL10A1 was reported that the authors classified as a possible result.; Changed rating: AMBER; Changed phenotypes: Hydrops, contractures, echogenic kidney, placentalmegaly
Fetal anomalies v0.273 PIK3CA Rebecca Foulger edited their review of gene: PIK3CA: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a de novo heterozygous variant in PIK3CA in a case where the main ultrasound finding was Brain malformations (Table 1). An inherited MYH3 variant was also detected in this case but was reclassified as likely benign based on allele frequency data.; Changed rating: AMBER; Changed phenotypes: Brain malformations
Fetal anomalies v0.273 PTPN11 Rebecca Foulger edited their review of gene: PTPN11: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo variant in PTPN11 in a case where the main ultrasound finding was Syndactyly, polydactyly (Table 1). An additional likely-pathogenic variant was identified in WDR35.; Changed rating: AMBER; Changed phenotypes: Syndactyly, polydactyly
Fetal anomalies v0.273 FGFR2 Rebecca Foulger edited their review of gene: FGFR2: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo variant in FGFR2 in a case where the main ultrasound finding was Fontal bossing, talipes, syndactyly, abducted thumbs (Table 1).; Changed rating: AMBER; Changed phenotypes: Fontal bossing, talipes, syndactyly, abducted thumbs
Fetal anomalies v0.273 RIPK4 Rebecca Foulger edited their review of gene: RIPK4: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous likely pathogenic variant in RIPK4 (plus a heterozygous VUS) in a case where the main ultrasound finding was Hydrops, diaphragmatic hernia, gracile ribs, contractures (Table 1). Additional VUS variants were reported in RSAD1 and PPAP2C.; Changed rating: AMBER; Changed phenotypes: Hydrops, diaphragmatic hernia, gracile ribs, contractures
Fetal anomalies v0.273 HRAS Rebecca Foulger edited their review of gene: HRAS: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous variant in HRAS in a case where the main ultrasound finding was Hydrops (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops
Fetal anomalies v0.273 BBS4 Rebecca Foulger edited their review of gene: BBS4: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a pathogenic variant in BBS4 in a case where the main ultrasound finding was Bilateral enlarged cystic kidneys (Table 1). VUS variants in ANKS6 and PKD1 were also reported.; Changed rating: AMBER; Changed phenotypes: Bilateral enlarged cystic kidneys
Fetal anomalies v0.273 PIEZO1 Rebecca Foulger edited their review of gene: PIEZO1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a case with two homozygous variants in PIEZO1 (one pathogenic, one VUS), where the main ultrasound finding was Hydrops (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops
Fetal anomalies v0.272 SOX9 Rebecca Foulger Publications for gene: SOX9 were set to
Fetal anomalies v0.271 L1CAM Rebecca Foulger Publications for gene: L1CAM were set to
Fetal anomalies v0.270 PIK3R2 Rebecca Foulger Publications for gene: PIK3R2 were set to
Fetal anomalies v0.269 RIT1 Rebecca Foulger Publications for gene: RIT1 were set to
Fetal anomalies v0.268 AMER1 Rebecca Foulger Publications for gene: AMER1 were set to 8425981
Fetal anomalies v0.267 AMER1 Rebecca Foulger Publications for gene: AMER1 were set to
Fetal anomalies v0.266 FANCB Rebecca Foulger Publications for gene: FANCB were set to
Fetal anomalies v0.265 CYP11A1 Rebecca Foulger Publications for gene: CYP11A1 were set to
Fetal anomalies v0.264 FLNA Rebecca Foulger Publications for gene: FLNA were set to
Fetal anomalies v0.263 MRPS22 Rebecca Foulger Publications for gene: MRPS22 were set to
Fetal anomalies v0.262 FOXP3 Rebecca Foulger Publications for gene: FOXP3 were set to
Fetal anomalies v0.261 PIK3CA Rebecca Foulger Publications for gene: PIK3CA were set to
Fetal anomalies v0.260 PTPN11 Rebecca Foulger Publications for gene: PTPN11 were set to
Fetal anomalies v0.259 FGFR2 Rebecca Foulger Publications for gene: FGFR2 were set to
Fetal anomalies v0.258 RIPK4 Rebecca Foulger Publications for gene: RIPK4 were set to
Fetal anomalies v0.257 HRAS Rebecca Foulger Publications for gene: HRAS were set to
Fetal anomalies v0.256 BBS4 Rebecca Foulger Publications for gene: BBS4 were set to
Fetal anomalies v0.255 PIEZO1 Rebecca Foulger Publications for gene: PIEZO1 were set to 26333996; 23695678
Fetal anomalies v0.254 GJB2 Rebecca Foulger Publications for gene: GJB2 were set to
Fetal anomalies v0.253 BRAT1 Rebecca Foulger Publications for gene: BRAT1 were set to
Fetal anomalies v0.252 ATP7A Rebecca Foulger Publications for gene: ATP7A were set to
Fetal anomalies v0.251 HEXA Rebecca Foulger Publications for gene: HEXA were set to
Fetal anomalies v0.250 TRAF7 Rebecca Foulger Phenotypes for gene: TRAF7 were changed from Developmental Delay, Congenital Anomalies, and Dysmorphic Features to Developmental Delay, Congenital Anomalies, and Dysmorphic Features; Cardiac, facial, and digital anomalies with developmental delay, 618164
Fetal anomalies v0.249 TRAF7 Rebecca Foulger commented on gene: TRAF7: PMID:29961569 (Tokita et al, 2018 Table 1) list Prenatal ultrasound findings in five unrelated patients with the disorder 'Cardiac, facial, and digital anomalies with developmental delay' (MIM:618164) and TRAF7 missense variants. The prenatal findings include choroid plexus cyst, IUGR and cardiac defects.
Fetal anomalies v0.249 HNRNPK Rebecca Foulger Phenotypes for gene: HNRNPK were changed from Au-Kline Syndrome to Au-Kline syndrome, 616580
Fetal anomalies v0.248 CNOT1 Rebecca Foulger Classified gene: CNOT1 as Amber List (moderate evidence)
Fetal anomalies v0.248 CNOT1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting clinical review. In summary: Sufficient (five) unrelated cases from two 2019 papers (PMID:31006513 and PMID:31006510) with holoprosencephaly, and pancreatic agenesis in 4/5 cases. The same heterozygous variant was recorded in all five individuals and authors of PMID:31006513 suggest phenotype is variant-specific rather than LOF. Mice require a homozygous variant to display a phenotype.
Fetal anomalies v0.248 CNOT1 Rebecca Foulger Gene: cnot1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.247 CNOT1 Rebecca Foulger commented on gene: CNOT1: Kruszka et al., 2019 (PMID:31006510) report two unrelated individuals with semilobar holoprosencephaly who have the identical de novo missense variant in the gene CNOT1. (c.1603C>T [p.Arg535Cys]). Proband 1 was born after a pregnancy complicated by IUGR. Additional medical problems include diabetes, pancreatice exocrine insufficiency and facial characteristics. No diabetic or pancreatic phenotype was recorded for proband 2.
Fetal anomalies v0.247 CNOT1 Rebecca Foulger commented on gene: CNOT1: De Franco et al., 2019 (PMID:31006513) investigated a cohort of 107 individuals with pancreatic agenesis and definite/possible holoprosencephaly, and identified a heterozygous missense variant in CNOT1 (NM_016284.4; c.1603C>T (p.Arg535Cys)) in three unrelated individuals. The variant was de novo in two individuals, and was not present in the DNA sample from the third individual's father (maternal sample was unavailable). Mice required a homozygous variant to display a phenotype: in homozygous mice embryos (embryonically lethal) morphological abnormalities were apparent upon dissection including edema, a smaller dorsal pancreas, and exencephaly. The DDD study identified de novo CNOT1 variants in three individuals with developmental delay but none had holoprosencephaly, diabetes or pancreatic or neurological structural malformations. The authors therefore suggest that a mutation-specific mechanism rather than LOF is responsible for the pancreatic and holoprosencephaly phenotype.
Fetal anomalies v0.247 CNOT1 Rebecca Foulger reviewed gene: CNOT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.246 CNOT1 Rebecca Foulger gene: CNOT1 was added
gene: CNOT1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to 31006510; 31006513
Phenotypes for gene: CNOT1 were set to pancreatic agenesis and holoprosencephaly syndrome
Mode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments
Fetal anomalies v0.245 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Fetal anomalies v0.245 MUT Louise Daugherty commented on gene: MUT
Fetal anomalies v0.245 HNRNPK Rebecca Foulger Publications for gene: HNRNPK were set to 29904177; 30998304
Fetal anomalies v0.244 HNRNPK Rebecca Foulger commented on gene: HNRNPK: Added HNRNPK to the Fetal anomalies panel as a Green gene based on the DDG2P Disease confidence rating of 'confirmed' for Au-Kline syndrome. There is sufficient evidence (>3 unrelated cases from PMIDs:26173930,26954065,28771707,29904177) supporting a link between HNRNPK and Au-Kline syndrome. Plus the phenotype includes structural anomalies and PMID:29904177 report a prenatal presentation.
Fetal anomalies v0.244 HNRNPK Rebecca Foulger commented on gene: HNRNPK: Au et al., 2018 (PMID:29904177) report prenatal presentation of Au-Kline syndrome: patient 9 presented prenatally with prune belly sequence, club feet, cystic kidneys associated with large cystic hygroma, pleural effusions and enlarged bladder. An additional 5 prenatal patients showed increased nuchal translucency and 5 patients had hydronephrosis. Congenital heart disease was reported for one patient prenatally. Agenesis of the corpus callosum was observed prenatally in one patient. Choroid plexus cysts, hyperechoic bowel, and ventriculomegaly have also been detected in ultrasound in single patients.
Fetal anomalies v0.244 HNRNPK Rebecca Foulger commented on gene: HNRNPK: Au-Kline syndrome is a multiple malformation syndrome associated with intellectual disability. Patients have facial dysmorphic features and frequently have skeletal and connective tissue anomalies, craniosynostosis, congenital heart malformations, and renal anomalies (PMID:29904177). Structural phenotypes reported in the literature include talipes and partial agenesis of corpus callosum. Au et al., 2018 (PMID:29904177) report prenatal presentation with 5 patients showing increased nuchal translucency and 5 patients had hydronephrosis.
Fetal anomalies v0.244 HNRNPK Rebecca Foulger reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.243 HNRNPK Rebecca Foulger gene: HNRNPK was added
gene: HNRNPK was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPK were set to 29904177; 30998304
Phenotypes for gene: HNRNPK were set to Au-Kline Syndrome
Fetal anomalies v0.242 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
Fetal anomalies v0.242 APOPT1 Louise Daugherty commented on gene: APOPT1