- Panels
- Molecular autopsy
- SOS1
Genes in panel
- AARS2 0
- AASS 0
- ABAT 0
- ABCA1 0
- ABCB11 0
- ABCB4 0
- ABCB7 0
- ABCC9 2
- ABCD1 0
- ABCD4 0
- ABHD5 0
- ACAD8 0
- ACAD9 0
- ACADM 0
- ACADS 0
- ACADSB 0
- ACADVL 0
- ACAT1 0
- ACO2 0
- ACOX1 0
- ACSF3 0
- ACTC1 2
- ACTN2 2
- ADAR 0
- AFG3L2 0
- AGA 0
- AGK 0
- AGL 0
- AGPS 0
- AGXT 0
- AIFM1 0
- AKR1D1 0
- ALAD 0
- ALDH18A1 0
- ALDH4A1 0
- ALDH5A1 0
- ALDH6A1 0
- ALDH7A1 0
- ALDOA 0
- ALDOB 0
- ALG1 0
- ALG11 0
- ALG12 0
- ALG3 0
- ALG6 0
- ALG8 0
- ALG9 0
- AMACR 0
- AMN 0
- AMT 0
- ANK2 2
- ANO10 0
- APOA1 0
- APOA5 0
- APOC2 0
- APOE 0
- APOPT1 1
- APRT 0
- APTX 0
- ARG1 0
- ARSA 0
- ARSB 0
- ARSE 1
- ASL 0
- ASPA 0
- ASS1 0
- ATAD3A 0
- ATIC 0
- ATP13A2 0
- ATP6AP1 0
- ATP6V0A2 0
- ATP7A 0
- ATP7B 0
- ATP8B1 0
- ATPAF2 0
- AUH 0
- B3GALNT2 0
- B3GALT6 0
- B3GAT3 0
- B3GLCT 0
- B4GALT1 0
- B4GALT7 0
- B4GAT1 0
- BAAT 0
- BAG3 1
- BCKDHA 0
- BCKDHB 0
- BCKDK 0
- BCS1L 0
- BOLA3 0
- BRAF 1
- BTD 0
- C12orf65 1
- C19orf12 0
- C1QBP 0
- CA5A 0
- CACNA1C 2
- CACNB2 2
- CALM1 2
- CALM2 0
- CASQ2 2
- CAT 0
- CBL 1
- CBS 0
- CCDC115 1
- CHCHD10 0
- CHKB 0
- CHST14 0
- CHST3 0
- CHST6 0
- CHSY1 0
- CLN3 0
- CLN5 0
- CLN6 0
- CLN8 0
- CLPB 0
- CLPP 0
- CNNM2 0
- COG1 0
- COG4 0
- COG5 0
- COG6 0
- COG7 0
- COG8 0
- COL12A1 0
- COL6A1 0
- COL6A2 0
- COL6A3 0
- COQ2 0
- COQ4 0
- COQ6 0
- COQ8A 0
- COQ8B 0
- COQ9 0
- COX10 0
- COX14 0
- COX15 1
- COX20 0
- COX6A1 0
- COX6B1 0
- COX7B 0
- CP 0
- CPOX 0
- CPS1 0
- CPT1A 0
- CPT2 0
- CSRP3 2
- CTH 0
- CTNS 0
- CTSA 0
- CTSD 0
- CTSK 0
- CUBN 0
- CYC1 0
- CYP27A1 0
- D2HGDH 0
- DAG1 0
- DARS 1
- DARS2 0
- DBH 0
- DBT 0
- DDC 0
- DES 2
- DGUOK 0
- DHFR 0
- DHTKD1 0
- DLAT 0
- DLD 0
- DMD 1
- DNA2 0
- DNAJC12 0
- DNAJC19 1
- DNAJC5 0
- DNM1L 0
- DOLK 1
- DPAGT1 0
- DPM1 0
- DPM2 0
- DPYD 0
- DPYS 0
- DSC2 2
- DSG2 2
- DSP 2
- DYM 0
- EARS2 0
- EBP 0
- ECHS1 0
- ELAC2 0
- ENO3 0
- EPG5 0
- EPM2A 0
- ETFA 0
- ETFB 0
- ETFDH 0
- ETHE1 0
- EXT1 0
- EXT2 0
- EYA4 2
- FA2H 0
- FAH 0
- FAR1 0
- FARS2 0
- FASTKD2 0
- FBP1 0
- FBXL4 0
- FDXR 0
- FH 0
- FHL1 2
- FKRP 1
- FKTN 1
- FLAD1 0
- FMO3 0
- FOLR1 0
- FOXRED1 0
- FUCA1 0
- FUT8 0
- G6PC 1
- G6PC3 0
- GAA 1
- GABRG2 0
- GALC 0
- GALE 0
- GALK1 0
- GALNS 0
- GALNT3 0
- GALT 0
- GARS 1
- GATM 0
- GBA 0
- GBE1 0
- GCDH 0
- GCH1 0
- GCLC 0
- GDAP1 0
- GFER 0
- GFM1 0
- GFPT1 0
- GIF 1
- GLA 2
- GLB1 0
- GLDC 0
- GLRA1 0
- GLRX5 0
- GLUD1 0
- GLYCTK 0
- GM2A 0
- GMPPB 0
- GNE 0
- GNPAT 0
- GNPTAB 0
- GNPTG 0
- GNS 0
- GPD1 0
- GPD1L 2
- GPHN 0
- GRHPR 0
- GSS 0
- GTPBP3 0
- GUSB 0
- GYG1 0
- GYS1 0
- GYS2 0
- HAAO 0
- HADHA 1
- HADHB 0
- HAMP 0
- HCCS 0
- HCFC1 0
- HCN4 2
- HEXA 0
- HEXB 0
- HFE 1
- HFE2 1
- HGD 0
- HGSNAT 0
- HIBCH 0
- HLCS 0
- HMBS 0
- HMGCL 0
- HMGCS2 0
- HOGA1 0
- HPRT1 0
- HRAS 1
- HSD17B4 0
- HSD3B7 0
- HSPD1 0
- HTRA2 0
- HYAL1 0
- IARS2 0
- IBA57 0
- IDH2 0
- IDS 0
- IDUA 0
- IER3IP1 0
- INPP5K 0
- ISPD 1
- ITGA7 0
- ITPA 0
- IVD 0
- JUP 2
- KARS 2
- KCNE1 2
- KCNE2 2
- KCNE3 2
- KCNH2 2
- KCNJ2 2
- KCNJ5 2
- KCNQ1 2
- KRAS 1
- KYNU 0
- L2HGDH 0
- LAMA2 1
- LAMP2 2
- LARGE1 0
- LARS2 0
- LCAT 0
- LCT 0
- LDB3 1
- LDHA 0
- LIAS 0
- LIPA 0
- LIPT1 0
- LMBRD1 0
- LMNA 2
- LONP1 0
- LPIN1 0
- LPL 0
- LRPPRC 0
- LZTR1 0
- MAN1B1 0
- MAN2B1 0
- MAP2K1 1
- MAP2K2 1
- MARS2 0
- MAT1A 0
- MCCC1 0
- MCCC2 0
- MCEE 0
- MCOLN1 0
- MDH2 0
- MFF 0
- MFN2 0
- MFSD8 0
- MGAT2 0
- MGME1 0
- MICU1 0
- MLYCD 0
- MMAA 0
- MMAB 0
- MMACHC 0
- MMADHC 0
- MOGS 0
- MPDU1 0
- MPI 0
- MPV17 0
- MRPL44 1
- MRPS22 0
- MRPS34 0
- MSMO1 0
- MT-ATP6 0
- MT-ATP8 0
- MT-CO1 0
- MT-CO2 0
- MT-CO3 0
- MT-CYB 0
- MTHFR 0
- MT-ND1 0
- MT-ND2 0
- MT-ND3 0
- MT-ND4 0
- MT-ND4L 0
- MT-ND5 0
- MT-ND6 0
- MTO1 0
- MTR 0
- MT-RNR1 0
- MTRR 0
- MT-TA 0
- MT-TC 0
- MT-TD 0
- MT-TE 0
- MT-TF 0
- MT-TG 0
- MT-TH 0
- MT-TI 0
- MT-TK 0
- MT-TL1 0
- MT-TL2 0
- MT-TM 0
- MT-TN 0
- MTTP 0
- MT-TP 0
- MT-TQ 0
- MT-TR 0
- MT-TS1 0
- MT-TS2 0
- MT-TV 0
- MT-TW 0
- MT-TY 0
- MUT 1
- MYBPC3 2
- MYH6 2
- MYH7 2
- MYL2 2
- MYL3 2
- MYMK 0
- NAGA 0
- NAGLU 0
- NAGS 0
- NARS2 0
- NDUFA1 1
- NDUFA10 0
- NDUFA11 0
- NDUFA2 0
- NDUFAF1 0
- NDUFAF2 0
- NDUFAF3 0
- NDUFAF4 0
- NDUFAF5 0
- NDUFAF6 0
- NDUFB11 0
- NDUFB3 0
- NDUFS1 0
- NDUFS2 0
- NDUFS3 0
- NDUFS4 0
- NDUFS6 0
- NDUFS7 0
- NDUFS8 0
- NDUFV1 0
- NDUFV2 0
- NEU1 0
- NEXN 2
- NF1 0
- NFU1 0
- NGLY1 0
- NHLRC1 0
- NPC1 0
- NPC2 0
- NRAS 1
- NSDHL 0
- NT5C3A 0
- NUBPL 0
- OAT 0
- OPA1 0
- OPA3 0
- OTC 0
- OXCT1 0
- PAH 0
- PC 0
- PCBD1 0
- PCCA 0
- PCCB 0
- PDHA1 0
- PDHB 0
- PDHX 0
- PDP1 0
- PDSS1 0
- PDSS2 0
- PET100 0
- PEX1 0
- PEX10 0
- PEX11B 0
- PEX12 0
- PEX13 0
- PEX14 0
- PEX16 0
- PEX19 0
- PEX2 0
- PEX26 0
- PEX3 0
- PEX5 0
- PEX6 0
- PEX7 0
- PFKM 0
- PGAP2 0
- PGAP3 0
- PGK1 0
- PGM1 0
- PGM3 0
- PHKA1 0
- PHKA2 0
- PHKB 0
- PHKG2 0
- PHOX2B 0
- PHYH 0
- PIGA 0
- PIGL 0
- PIGN 0
- PIGO 0
- PIGT 0
- PIGV 0
- PKP2 2
- PLA2G6 0
- PLN 2
- PMM2 0
- PMPCA 0
- PNPO 0
- PNPT1 0
- POLG 0
- POLG2 1
- POMGNT1 0
- POMGNT2 0
- POMK 0
- POMT1 0
- POMT2 0
- PPA2 1
- PPOX 0
- PPP1CB 0
- PPP1R13L 0
- PPT1 0
- PRKAG2 2
- PRODH 0
- PSAP 0
- PTPN11 1
- PUS1 0
- PYCR1 0
- PYGL 0
- PYGM 0
- QDPR 0
- RAB3GAP2 0
- RAF1 1
- RARS2 0
- RBCK1 0
- RBM20 2
- RFT1 0
- RIT1 0
- RMND1 0
- RNASEH1 0
- ROBO3 0
- RPIA 0
- RPL10 0
- RRM2B 0
- RYR1 0
- RYR2 2
- SACS 0
- SAMHD1 0
- SAR1B 0
- SARS2 0
- SCN10A 1
- SCN1B 2
- SCN3B 2
- SCN5A 2
- SCO1 0
- SCO2 0
- SCP2 0
- SDHA 1
- SDHAF1 0
- SDHB 0
- SDHD 0
- SEC23B 0
- SELENON 0
- SERAC1 0
- SGCD 2
- SGSH 0
- SHOC2 1
- SI 0
- SLC16A1 0
- SLC17A5 0
- SLC19A2 0
- SLC19A3 0
- SLC22A5 1
- SLC25A1 0
- SLC25A13 0
- SLC25A15 0
- SLC25A19 0
- SLC25A20 0
- SLC25A22 0
- SLC25A26 0
- SLC25A3 0
- SLC25A38 0
- SLC25A4 3
- SLC25A46 0
- SLC2A2 0
- SLC30A10 0
- SLC35A1 1
- SLC35C1 0
- SLC35D1 0
- SLC37A4 0
- SLC39A14 0
- SLC39A4 0
- SLC39A8 0
- SLC40A1 0
- SLC46A1 0
- SLC4A3 0
- SLC52A2 0
- SLC52A3 0
- SLC5A1 0
- SLC6A19 1
- SLC7A7 0
- SMPD1 0
- SNTA1 3
- SOS1 1
- SOS2 0
- SPG7 0
- SPRED1 0
- SRD5A3 0
- SSR4 0
- ST3GAL5 0
- SUCLA2 0
- SUCLG1 0
- SUMF1 0
- SUOX 0
- SURF1 0
- SYNE1 0
- TACO1 0
- TALDO1 0
- TANGO2 0
- TAZ 1
- TCAP 3
- TFR2 0
- TIMM8A 0
- TK2 0
- TMEM165 0
- TMEM43 2
- TMEM5 1
- TMEM70 0
- TNNC1 2
- TNNI3 2
- TNNI3K 1
- TNNT2 2
- TPK1 0
- TPM1 2
- TPP1 0
- TRDN 2
- TRIM37 0
- TRMU 0
- TRNT1 0
- TRPM4 2
- TRPM6 0
- TSFM 0
- TTC19 0
- TTN 2
- TUSC3 0
- TWNK 0
- TYMP 0
- UGT1A1 0
- UMPS 0
- UROD 0
- UROS 0
- VARS2 0
- VCL 2
- WDR45 0
- XDH 0
- XYLT1 0
- XYLT2 0
- YARS2 0
- ABCG5 0
- ABCG8 0
- ABHD12 0
- ACTA1 1
- ACY1 0
- ADA 0
- ADSL 0
- ALAS2 0
- ALDH3A2 0
- ALG13 0
- ALPL 0
- ANKRD1 1
- APOB 0
- ASAH1 0
- CACNA2D1 2
- CISD2 0
- CLDN16 0
- CLDN19 0
- COA3 0
- COA6 0
- COL4A1 0
- CRYAB 1
- CSTB 0
- CTSC 0
- CYCS 0
- CYP7B1 0
- DCC 0
- DCXR 0
- DHCR24 0
- DHCR7 0
- DHDDS 0
- DHODH 0
- DPM3 0
- DYSF 0
- FECH 0
- FGFR2 0
- FLNC 1
- FTCD 0
- FXN 1
- GAMT 0
- GATAD1 1
- GK 0
- GLUL 0
- GNMT 0
- HADH 0
- HPD 0
- HPS1 0
- HSD17B10 0
- ISCU 0
- JPH2 1
- KCNJ8 1
- LBR 0
- LDLR 0
- LDLRAP1 0
- LIPC 0
- MAGT1 0
- MANBA 0
- MAOA 0
- MOCS1 0
- MOCS2 0
- MRPL3 0
- MTFMT 0
- MTPAP 0
- MT-RNR2 0
- MT-TT 0
- MVK 0
- MYLK2 2
- MYPN 1
- NDUFA4 0
- NDUFB9 0
- OCRL 0
- OPLAH 0
- PANK2 0
- PARS2 1
- PCK1 0
- PCSK9 0
- PDPR 0
- PEPD 0
- PGAM2 0
- PHGDH 0
- PIGM 0
- PINK1 0
- PNP 0
- POR 0
- PRPS1 0
- PSAT1 0
- PSEN1 0
- PSEN2 0
- PSPH 0
- PTS 0
- QARS 1
- RANBP2 1
- RBP4 0
- RNASEH2A 0
- RNASEH2B 0
- RNASEH2C 0
- RNASET2 0
- SC5D 0
- SDHAF2 0
- SDHC 0
- SETX 0
- SKIV2L 0
- SLC12A3 0
- SLC18A2 0
- SLC25A12 0
- SLC2A1 0
- SLC35A2 0
- SLC3A1 0
- SLC6A3 0
- SLC6A8 0
- SLC7A9 0
- SPR 0
- SPTLC1 0
- SPTLC2 0
- ST3GAL3 0
- STS 0
- STT3A 0
- TARS2 0
- TAT 0
- TCN2 0
- TH 0
- TIMM50 0
- TMEM126B 0
- TREX1 0
- TTC37 0
- TTPA 0
- TTR 2
- TUFM 0
- UMOD 0
- UQCRB 0
- UQCRQ 1
- UROC1 0
- VIPAS39 0
- VKORC1 0
- VPS33B 0
- WFS1 0
- XPNPEP3 0
- A2ML1 0
- ABCG2 0
- AHCY 0
- AKAP9 2
- ALDH1B1 0
- ALG10 1
- ALG10B 1
- ALG14 0
- ALG2 0
- ALMS1 1
- AMPD1 0
- ANO5 0
- AOX1 0
- ARSG 0
- ASCL1 0
- ATAD3B 0
- ATP5A1 1
- ATP5B 1
- ATP5C1 1
- ATP5E 1
- ATP5G1 1
- ATP5G2 1
- ATP5G3 1
- ATP5I 1
- ATP5J 1
- ATP5O 1
- ATXN7 0
- BCAT1 0
- BCAT2 0
- BDNF 0
- BOLA1 0
- BOLA2 0
- C1GALT1C1 0
- CAD 0
- CALM3 0
- CALR3 1
- CARS2 0
- CAV3 1
- CAVIN4 0
- CD320 0
- CEP89 0
- CETP 0
- CLPS 0
- CNDP1 0
- COA1 0
- COA5 0
- COG2 0
- COL4A2 0
- COQ7 0
- COX4I1 0
- COX4I2 0
- COX5A 0
- COX5B 0
- COX6C 0
- COX7A1 0
- COX7A2 0
- COX7B2 0
- COX7C 0
- COX8A 0
- CTF1 0
- CTNNA3 0
- CYP7A1 0
- DDOST 0
- DHFR2 0
- DLG1 0
- DLST 0
- DMGDH 0
- DMPK 0
- DNM2 0
- DPEP1 0
- DPP6 0
- DTD1 0
- DTNA 1
- DUX4 0
- ECSIT 0
- EDN3 0
- EGF 0
- EMD 1
- ERCC6L2 0
- FBP2 0
- FDX2 0
- FHL2 0
- FOLR2 0
- FOLR3 0
- FXYD2 0
- GALNT12 0
- GATB 0
- GATC 0
- GCSH 0
- GDNF 0
- GFM2 0
- GGT1 0
- GJA5 1
- GLS 0
- GORAB 0
- HAL 0
- HARS2 0
- HSPA9 0
- HYKK 0
- IDH3B 0
- ILK 1
- ISCA2 0
- KCNA5 1
- KCND2 0
- KCND3 1
- KCNE5 0
- KHK 0
- KLF10 1
- LACTB 0
- LAMA4 1
- LARS 1
- LETM1 0
- LFNG 0
- LIPI 0
- LIPT2 0
- LRP5 0
- LYRM4 0
- LYRM7 0
- MECR 0
- MIB1 1
- MPC1 0
- MPO 0
- MRPL12 0
- MRPL40 0
- MRPS16 0
- MRPS2 0
- MRPS23 0
- MRPS7 0
- MTHFD1 0
- MYO6 0
- MYOM1 0
- MYOZ2 1
- NADK2 0
- NAT8L 0
- NAXE 0
- NDUFA12 0
- NDUFA13 0
- NDUFA3 0
- NDUFA5 0
- NDUFA6 0
- NDUFA7 0
- NDUFA8 0
- NDUFA9 0
- NDUFAB1 0
- NDUFB1 0
- NDUFB10 0
- NDUFB2 0
- NDUFB4 0
- NDUFB5 0
- NDUFB6 0
- NDUFB7 0
- NDUFB8 0
- NDUFC1 0
- NDUFC2 0
- NDUFS5 0
- NDUFV3 0
- NEBL 0
- NFS1 0
- NKX2-5 1
- NNT 0
- NOS1AP 0
- NPPA 1
- NT5C 0
- NUP62 0
- NUS1 0
- OGDH 0
- OXA1L 0
- PABPN1 0
- PDK1 0
- PDK2 0
- PDK3 0
- PDK4 0
- PDLIM3 1
- PDP2 0
- PDXK 0
- PEX11A 0
- PHKG1 0
- PHYKPL 0
- PIGW 0
- PITRM1 1
- PLEC 0
- PNLIP 0
- PNPLA4 0
- PNPLA8 0
- POP1 0
- PPM1B 0
- PPM1K 0
- PRDM16 1
- PREPL 0
- PTCD1 0
- PTPRZ1 0
- QRSL1 0
- RANGRF 1
- RASA2 0
- RET 0
- RTN4IP1 0
- SARDH 0
- SCARB1 0
- SCN2B 0
- SCN4B 2
- SFXN4 0
- SGCB 1
- SGCG 1
- SHPK 0
- SLC22A4 0
- SLC25A2 0
- SLC25A40 0
- SLC25A42 0
- SLC27A5 0
- SLC35A3 0
- SLC36A2 0
- SLC52A1 0
- SLC6A20 1
- SLC6A4 0
- SLCO1B1 0
- SLCO1B3 0
- SLMAP 0
- SMCHD1 0
- SRRT 0
- STAT2 0
- STT3B 0
- SUCLG2 0
- SUGCT 0
- SYNE2 0
- TBX20 1
- TCN1 0
- TDO2 0
- TGFB3 1
- TIMM44 0
- TM6SF2 0
- TMEM126A 0
- TMEM199 1
- TMPO 2
- TPMT 0
- TRAP1 0
- TRAPPC11 0
- TREH 0
- TRIM63 0
- TRIT1 0
- TRMT10C 0
- TRMT5 0
- TSPYL1 0
- TXN2 0
- TXNRD2 1
- UPB1 0
- UQCC2 0
- UQCC3 0
- UQCRC1 0
- UQCRC2 0
- UQCRFS1 0
- UQCRH 0
- USF1 0
- VPS13C 0
- WARS2 0
- XK 0
This Panel is marked as Internal
Molecular autopsy
Gene: SOS1 Green List (high evidence)
SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1)
EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 17 panels
1 review
Ellen McDonagh (Genomics England Curator)
I don't know
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.
Panel version: 0.86
Panel version: 0.86
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London South GLH
- Expert Review Green
- Phenotypes
-
- syndromic HCM
- Noonan syndrome
- Noonan syndrome 4
- OMIM
- 182530
- Clinvar variants
- Variants in SOS1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Intellectual disability
- Primary lymphoedema
- Hereditary neuropathy or pain disorder
- Monogenic short stature
- Fetal hydrops
- Childhood solid tumours
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Osteogenesis imperfecta
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- DDG2P
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
History Filter Activity
20 Feb 2019, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to SOS1.
20 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)gene: SOS1 was added gene: SOS1 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOS1 were set to 17586837; 17143285; PMID: 19438935; 17143282 Phenotypes for gene: SOS1 were set to syndromic HCM; Noonan syndrome; Noonan syndrome 4 Mode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments