Genes in panel
- ABHD16A 2
- ACTB 0
- ACTG1 0
- ADD1 1
- ADGRG1 0
- AHI1 0
- AIFM1 0
- AKT3 0
- ALX3 1
- ALX4 0
- AMER1 0
- AMPD2 0
- AMT 1
- ANK2 0
- ANOS1 0
- APP 0
- ARFGEF2 0
- ARHGAP31 1
- ARID1A 0
- ARID1B 0
- ARX 0
- ASPM 1
- ASTN1 1
- ASXL1 0
- ASXL3 1
- ATP6V0A2 0
- ATP6V0C 1
- ATP7A 0
- ATR 0
- ATRX 0
- B3GALNT2 0
- B3GLCT 0
- B4GAT1 1
- BCAS3 2
- BCS1L 0
- BHLHE22 1
- BMP4 0
- BRAF 0
- BUB1B 0
- C12orf57 0
- C12orf65 0
- C2CD3 0
- C5orf42 0
- CAMSAP1 2
- CASK 0
- CCND2 0
- CDH2 1
- CDON 0
- CENPF 0
- CHD4 0
- CHD7 0
- CHMP1A 0
- CLCN3 1
- CPT2 0
- CREBBP 0
- CSMD1 1
- CTNNA2 1
- CTNNB1 0
- CTU2 0
- CUL4B 0
- CWF19L1 0
- DCC 1
- DCHS1 0
- DCX 0
- DDC 0
- DHCR24 0
- DHCR7 0
- DIS3L2 0
- DISC1 0
- DLAT 0
- DLD 0
- DLL1 1
- DOCK6 0
- DPYD 0
- DPYSL5 1
- DSCAM 0
- DYNC1H1 0
- EARS2 1
- EBP 0
- EFNB1 0
- EFTUD2 0
- EP300 0
- EPG5 1
- ERCC1 0
- ERCC2 0
- ERCC5 0
- ERCC6 0
- ERLIN2 0
- EXOSC3 0
- FA2H 0
- FARS2 0
- FAT4 0
- FGF17 0
- FGF8 0
- FGFR1 0
- FGFR2 0
- FGFR3 0
- FH 0
- FIG4 0
- FKRP 0
- FKTN 0
- FLNA 0
- FLVCR2 0
- FOXC1 0
- FOXG1 0
- FOXN1 0
- FOXRED1 0
- FRA10AC1 1
- FRAS1 0
- FREM2 0
- GALC 0
- GFM1 0
- GHRHR 0
- GLDC 0
- GLI2 0
- GLI3 0
- GLUL 0
- GMPPB 0
- GPC3 0
- GPSM2 1
- HCCS 0
- HEPACAM 0
- HESX1 0
- HIBCH 0
- HID1 1
- HRAS 0
- HSD17B4 0
- ICK 0
- IGF1 0
- INPP5E 0
- ISPD 0
- KAT6B 0
- KCNT1 0
- KIAA0586 0
- KIF14 0
- KIF1BP 0
- KIF5C 1
- KIF7 0
- KISS1R 0
- KNL1 0
- KRAS 0
- L1CAM 0
- L2HGDH 0
- LAMB1 0
- LAMC3 0
- LARGE1 0
- LNPK 2
- LRP2 1
- LZTR1 0
- MAP2K1 0
- MAP2K2 0
- MAST1 1
- MBTPS2 0
- MED12 0
- MEF2C 0
- MID1 0
- MLC1 0
- MRPS22 0
- MTFMT 0
- MTOR 0
- MYCBP2 1
- MYCN 0
- NAA10 0
- NBN 0
- NDE1 0
- NDUFA1 0
- NDUFA2 2
- NDUFAF5 0
- NDUFAF6 0
- NDUFS1 1
- NDUFS7 0
- NDUFS8 0
- NDUFV1 0
- NF1 0
- NFIA 1
- NFIX 0
- NONO 1
- NRAS 0
- NSD1 0
- NUBPL 1
- NUDT2 1
- OCLN 0
- OFD1 0
- OTX2 0
- PAFAH1B1 1
- PAK1 1
- PAX6 0
- PC 0
- PCCA 0
- PCCB 0
- PCYT2 0
- PDHA1 0
- PDHB 0
- PDHX 0
- PDP1 0
- PDYN 0
- PEX1 0
- PEX10 0
- PEX12 0
- PEX13 0
- PEX14 0
- PEX16 0
- PEX19 0
- PEX2 0
- PEX26 0
- PEX3 0
- PEX5 0
- PEX6 0
- PIEZO2 0
- PIK3CA 0
- PIK3R2 0
- PITX1 0
- PITX2 0
- PNKP 0
- PNPT1 1
- POLR3A 0
- POLR3B 0
- POMGNT1 0
- POMGNT2 0
- POMK 0
- POMT1 0
- POMT2 0
- PORCN 0
- POU1F1 0
- PPP2R1A 1
- PPP2R5D 0
- PROP1 0
- PRRX1 0
- PSAP 0
- PSMF1 1
- PTCH1 0
- PTEN 0
- PTPN11 0
- PYCR1 0
- RAB18 1
- RAB34 1
- RAB3GAP1 0
- RAB3GAP2 0
- RAC1 0
- RAC3 1
- RAD51 0
- RAF1 0
- RARS2 0
- RBM10 0
- RBPJ 0
- RELN 0
- RIT1 0
- RMND1 2
- RNASEH2A 0
- RNASEH2B 0
- RNASEH2C 0
- RNU4ATAC 0
- ROBO2 0
- ROBO3 0
- RPS6KA3 0
- RTTN 0
- SAMHD1 0
- SATB2 0
- SCLT1 0
- SCO2 0
- SDHA 0
- SEMA3A 0
- SEPSECS 0
- SETBP1 0
- SF3B4 0
- SHH 0
- SHMT2 1
- SIX3 0
- SKI 0
- SLC12A6 1
- SLC1A4 0
- SLC25A1 0
- SLC25A19 0
- SLC25A22 0
- SLC4A10 2
- SMARCA4 0
- SMARCB1 0
- SMG9 0
- SMO 1
- SNAP29 0
- SNF8 2
- SNX10 0
- SOS1 0
- SOS2 0
- SOX2 0
- SPECC1L 0
- SPG11 0
- SRPK3 1
- STIL 0
- STRA6 0
- STXBP1 0
- SUOX 0
- SUPT16H 1
- SURF1 0
- SZT2 1
- TAC3 0
- TACR3 0
- TBC1D20 0
- TBX22 0
- TCF4 0
- TGIF1 1
- THOC6 0
- TMEM5 0
- TRAPPC6B 0
- TRAPPC9 0
- TREX1 0
- TSEN2 0
- TSEN54 0
- TSFM 0
- TTC19 0
- TUBA1A 0
- TUBB 0
- TUBB2A 0
- TUBB2B 0
- TUBB3 0
- TUBB4A 0
- TUBG1 0
- TUBGCP4 0
- TUBGCP6 0
- TUFM 0
- TWIST1 0
- UBE3B 2
- UPF3B 0
- UQCRB 0
- USP14 2
- VLDLR 0
- VRK1 0
- WASHC5 0
- WBP4 1
- WDR11 0
- WDR4 0
- WDR47 1
- WDR62 1
- YWHAE 1
- ZBTB18 1
- ZBTB20 0
- ZDHHC9 0
- ZEB2 1
- ZFYVE26 0
- ZIC1 0
- ZIC2 0
- ZIC3 0
- ZNF148 1
- ZNF462 1
- CD96 1
- CEP63 1
- GCSH 2
- HYLS1 1
- MRPS16 1
- NDUFAF3 1
- NDUFV2 1
- PMS2 1
- PROKR2 1
- SPTAN1 1
- U2AF2 1
- ZEB1 2
- AARS2 1
- ABAT 1
- ACADS 1
- ALG6 1
- AP4B1 1
- AP4M1 1
- ARMC1 1
- ATPAF2 1
- B3GNT2 1
- BCOR 1
- CDK5 1
- CDK5RAP2 1
- CENPJ 1
- CEP135 1
- CEP152 1
- CHSY1 1
- COX15 1
- CREB1 1
- CYP11A1 1
- DUSP6 1
- EMX2 1
- EOMES 1
- EPHB2 1
- ERBB2 1
- ERMARD 1
- ETFA 1
- ETFB 1
- ETFDH 1
- ETHE1 1
- EXOSC5 1
- FLRT3 1
- GAS1 1
- GCDH 1
- GNRH1 1
- HCFC1 1
- HS6ST1 1
- IGBP1 1
- IL17RD 1
- KIF11 1
- KIF27 1
- KIF2A 1
- KISS1 1
- LAMC1 1
- LHX3 1
- LHX4 1
- MCPH1 1
- MLH1 0
- MMACHC 1
- MSH2 0
- MSH6 0
- NDUFA10 1
- NDUFA11 1
- NDUFA12 1
- NDUFA9 2
- NDUFAF1 1
- NDUFAF2 1
- NDUFAF4 1
- NDUFB3 1
- NDUFS2 1
- NDUFS3 1
- NDUFS4 1
- NDUFS6 1
- NEXN 1
- NHEJ1 1
- NIN 1
- NR2E1 1
- NR2F1 1
- NSMF 1
- PCNT 1
- PIGA 1
- PRICKLE1 1
- PROK2 1
- RBBP8 1
- SLIT2 1
- SNIP1 1
- SOX3 1
- SPRY4 1
- TBC1D32 1
- TBR1 1
- TRIO 1
- TSEN34 1
- TUBA8 1
- UQCRQ 1
- VAX1 1
- WNT3 1
- XPNPEP3 1
- ATXN10 2
- DAB1 1
Regions in panel
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Callosome
Gene: SOX2 Green List (high evidence)
SOX2 (SRY-box 2)
EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 13 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Holoprosencephaly and septo-optic dysplasia
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Clefting disorders
- Mendeliome
- Eye Anterior Segment Abnormalities
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Callosome
- Differences of Sex Development
- Growth failure
- Cerebral Palsy
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SOX2 was added gene: SOX2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOX2 was set to Unknown