Genes in panel
- ADNP 1
- ANK2 1
- ARID1B 1
- ASH1L 1
- ASXL3 1
- CHD2 1
- CHD8 1
- CUL3 1
- DSCAM 1
- DYRK1A 1
- GRIN2B 1
- KATNAL2 1
- KMT2A 1
- KMT5B 1
- MYT1L 1
- NAA15 1
- POGZ 1
- PTEN 2
- RAB39B 2
- RELN 1
- SCN2A 1
- SETD5 1
- SHANK3 1
- SYNGAP1 1
- TBR1 1
- TRIP12 1
- ZNF292 2
- ANKRD11 1
- BAZ2B 2
- BCKDK 1
- BCL11A 1
- CACNA1D 1
- CACNA1H 1
- CACNA2D3 1
- CIC 1
- CMIP 3
- CNOT3 1
- CNTN4 1
- CNTNAP2 1
- CTNND2 1
- CUX1 1
- DDX3X 1
- DEAF1 1
- DIP2C 1
- ERBIN 1
- FOXP1 1
- GABRB3 1
- GIGYF2 1
- GRIA1 1
- GRIP1 1
- ILF2 1
- INTS6 1
- IRF2BPL 1
- KAT2B 1
- KDM5B 1
- KDM6A 1
- KMT2C 1
- LEO1 1
- MAGEL2 1
- MBOAT7 1
- MECP2 1
- MED13 1
- MED13L 1
- MET 1
- NCKAP1 1
- NLGN3 1
- NRXN1 1
- PHF3 1
- PTCHD1 1
- RANBP17 1
- RIMS1 1
- SCN9A 1
- SHANK2 1
- SLC6A1 1
- SMARCC2 1
- SPAST 1
- SRCAP 1
- SRSF11 1
- TAOK2 1
- TBL1XR1 1
- TCF20 1
- TNRC6B 1
- TRIO 1
- UBN2 1
- UPF3B 1
- USP15 1
- USP7 1
- WAC 1
- WDFY3 1
- ABAT 1
- ABCA10 1
- ABCA13 1
- ABCA7 1
- ACE 1
- ACHE 1
- ACTN4 1
- ADA 1
- ADCY3 1
- ADCY5 1
- ADK 1
- ADORA2A 1
- ADORA3 1
- ADRB2 1
- AFF2 1
- AGAP1 1
- AGAP2 1
- AGBL4 1
- AGMO 1
- AGO1 1
- AGTR2 1
- AHDC1 1
- AKAP9 1
- AMPD1 1
- AMT 1
- ANK3 1
- ANKS1B 1
- ANXA1 1
- APBA2 1
- APBB1 1
- APH1A 1
- AR 1
- ARHGAP11B 1
- ARHGAP32 1
- ARHGAP5 1
- ARHGEF10 1
- ARHGEF9 1
- ARNT2 1
- ASAP2 1
- ASMT 1
- ASPM 1
- ASTN2 1
- ATP10A 1
- ATP1A1 1
- ATP1A3 1
- ATP2B2 1
- ATP6V0A2 1
- ATRX 1
- AUTS2 1
- AVPR1A 1
- AVPR1B 1
- AZGP1 1
- BBS4 1
- BCAS1 1
- BICDL1 1
- BIRC6 1
- BRCA2 1
- BRD4 1
- BRSK1 1
- BST1 1
- BTAF1 1
- C15orf62 1
- C3orf58 1
- C4B 1
- CA6 1
- CACNA1B 1
- CACNA1E 1
- CACNA1F 1
- CACNA1G 1
- CACNA1I 1
- CACNA2D1 1
- CACNB2 1
- CADM1 1
- CADM2 1
- CADPS2 1
- CAMK2A 1
- CAMK4 1
- CAPN12 1
- CAPRIN1 1
- CARD11 1
- CASC4 2
- CASK 1
- CC2D1A 1
- CCDC88C 1
- CCDC91 1
- CCNG1 1
- CCT4 1
- CD276 1
- CD38 1
- CD99L2 1
- CDC42BPB 1
- CDH10 1
- CDH11 1
- CDH13 1
- CDH22 1
- CDH8 1
- CDH9 1
- CECR2 1
- CELF4 1
- CELF6 1
- CEP135 1
- CEP290 1
- CEP41 1
- CGNL1 1
- CHD1 2
- CHD3 1
- CHMP1A 1
- CHRM3 1
- CHRNA7 1
- CHRNB3 1
- CIB2 1
- CLASP1 1
- CLN8 1
- CLTCL1 1
- CNGB3 1
- CNKSR2 1
- CNR1 1
- CNTN3 1
- CNTN5 1
- CNTN6 1
- CNTNAP3 1
- CNTNAP4 1
- CNTNAP5 1
- COL28A1 1
- CPEB4 1
- CPT2 1
- CSMD1 1
- CSNK1E 1
- CTCF 1
- CTNNA3 1
- CTNNB1 1
- CTTNBP2 1
- CUL7 1
- CUX2 1
- CX3CR1 1
- CYFIP1 1
- CYLC2 1
- CYP11B1 1
- DAGLA 1
- DAPP1 1
- DDC 2
- DDX53 1
- DENR 1
- DIP2A 1
- DISC1 1
- DIXDC1 1
- DLG1 1
- DLGAP1 1
- DLGAP2 1
- DLGAP3 1
- DLX2 1
- DLX6 1
- DMXL2 1
- DNAH10 1
- DNAH17 1
- DNAH3 1
- DNER 1
- DNMT3A 1
- DOCK1 1
- DOCK4 1
- DOCK8 1
- DPP10 1
- DPP4 1
- DPP6 1
- DPYD 1
- DPYSL2 1
- DPYSL3 1
- DRD1 1
- DRD2 1
- DRD3 1
- DST 1
- DUSP15 1
- DVL3 1
- DYDC1 1
- DYDC2 1
- DYNC1H1 1
- EFR3A 1
- EHMT1 1
- EIF3G 1
- EIF4E 1
- ELAVL2 1
- ELAVL3 1
- ELOVL2 1
- ELP4 1
- EMSY 1
- EN2 1
- EP300 1
- EP400 1
- EPC2 1
- EPHB2 1
- EPPK1 1
- ERG 1
- ERMN 1
- ESR2 1
- ESRRB 1
- ETFB 1
- EXOC3 1
- EXOC5 1
- EXOC6 1
- EXOC6B 1
- EXT1 1
- FABP5 1
- FAM47A 1
- FAM92B 2
- FAN1 1
- FAT1 1
- FBN1 1
- FBXO11 1
- FBXO33 1
- FBXO40 1
- FCRL6 1
- FEZF2 1
- FGA 1
- FHIT 1
- FOXP2 1
- FRK 1
- GABBR2 1
- GABRA4 1
- GABRG3 1
- GALNT13 1
- GALNT14 1
- GALNT8 1
- GAS2 1
- GDA 1
- GGNBP2 1
- GIGYF1 1
- GLIS1 1
- GLO1 1
- GLRA2 1
- GNAS 1
- GNB1L 1
- GPC4 1
- GPC6 1
- GPD2 1
- GPHN 1
- GPR37 1
- GPR85 1
- GPX1 1
- GRID1 1
- GRID2 1
- GRID2IP 1
- GRIK2 1
- GRIK3 1
- GRIK4 1
- GRIK5 1
- GRIN1 1
- GRIN2A 1
- GRM5 1
- GRM7 1
- GSTM1 1
- GTF2I 1
- GUCY1A2 1
- HDLBP 1
- HECTD4 1
- HECW2 1
- HIVEP3 1
- HLA-A 1
- HLA-B 1
- HLA-DRB1 1
- HLA-G 1
- HMGN1 1
- HNRNPH2 1
- HNRNPU 1
- HOMER1 1
- HRAS 1
- HS3ST5 1
- HSD11B1 1
- HTR1B 1
- HTR3A 1
- HTR3C 1
- HYDIN 1
- ICA1 1
- IL1R2 1
- IL1RAPL1 1
- IL1RAPL2 1
- IMMP2L 1
- INPP1 1
- IQGAP3 1
- IQSEC2 1
- ITGB3 1
- ITPR1 1
- JARID2 1
- JMJD1C 1
- KANK1 1
- KAT6A 1
- KATNAL1 1
- KCND2 1
- KCND3 1
- KCNJ10 1
- KCNJ15 1
- KCNK7 1
- KCNMA1 2
- KCNQ2 1
- KCNQ3 1
- KCTD13 1
- KDM4B 1
- KDM4C 1
- KDM5C 1
- KDM6B 1
- KHDRBS2 1
- KIAA1586 1
- KIF13B 1
- KIF14 1
- KIF5C 1
- KIRREL3 1
- KLF16 1
- KMT2E 1
- KRR1 1
- KRT26 1
- LAMA1 1
- LAMB1 1
- LEP 1
- LILRB2 1
- LIN7B 1
- LMX1B 1
- LRBA 1
- LRFN2 1
- LRFN5 1
- LRP2 1
- LRRC1 1
- LRRC4 1
- LZTR1 1
- LZTS2 1
- MACROD2 1
- MAOA 1
- MAOB 1
- MAPK3 1
- MARK1 1
- MBD1 1
- MBD3 1
- MBD4 1
- MBD5 1
- MBD6 1
- MCM4 1
- MCM6 1
- MCPH1 1
- MDGA2 1
- MEF2C 1
- MEGF10 1
- MEGF11 1
- MFRP 1
- MIB1 1
- MIR137 2
- MKL2 1
- MNT 1
- MPP6 2
- MSANTD2 1
- MSR1 1
- MTF1 1
- MTHFR 1
- MTOR 1
- MUC12 1
- MUC4 1
- MYH10 1
- MYH4 1
- MYO16 1
- MYO1E 1
- MYO5A 1
- MYO5C 1
- MYO9B 1
- NAALADL2 1
- NACC1 1
- NAV2 1
- NBEA 1
- NCKAP5 1
- NCOR1 1
- NDUFA5 1
- NEO1 1
- NEXMIF 1
- NFIA 1
- NFIB 1
- NINL 1
- NIPA1 1
- NIPA2 1
- NLGN1 1
- NLGN2 1
- NLGN4X 1
- NLGN4Y 1
- NOTCH2NL 2
- NPAS2 1
- NR1D1 1
- NR2F1 1
- NR3C2 1
- NR4A2 1
- NRCAM 1
- NRP2 1
- NRXN2 1
- NRXN3 1
- NSMCE3 1
- NTNG1 1
- NTRK1 1
- NTRK3 1
- NUAK1 1
- NUDCD2 1
- NUP133 1
- NXPH1 1
- ODF3L2 1
- OFD1 1
- OPHN1 1
- OR1C1 1
- OR2M4 1
- OR2T10 1
- OR52M1 1
- OTUD7A 1
- OTX1 1
- OXT 1
- OXTR 1
- P2RX5 1
- P4HA2 1
- PAH 1
- PAK2 1
- PARD3B 1
- PATJ 1
- PAX5 1
- PCDH10 1
- PCDH11X 1
- PCDH15 1
- PCDH9 1
- PCDHA1 1
- PCDHA10 1
- PCDHA11 1
- PCDHA12 1
- PCDHA13 1
- PCDHA2 1
- PCDHA3 1
- PCDHA4 1
- PCDHA5 1
- PCDHA6 1
- PCDHA7 1
- PCDHA8 1
- PCDHA9 1
- PCDHAC1 1
- PCDHAC2 1
- PDCD1 1
- PDE1C 1
- PER1 1
- PER2 1
- PEX7 1
- PHB 1
- PHF2 1
- PHIP 1
- PHRF1 1
- PIK3CG 1
- PITX1 1
- PLAUR 1
- PLCB1 1
- PLN 1
- PLXNA3 1
- PLXNA4 1
- PLXNB1 1
- PNPLA7 1
- POLA2 1
- POMT1 1
- PON1 1
- POT1 1
- PPFIA1 1
- PPM1D 1
- PPP1R1B 1
- PPP2R1B 1
- PPP2R5D 1
- PREX1 1
- PRICKLE1 1
- PRICKLE2 1
- PRKCB 1
- PRKDC 1
- PRKN 1
- PRODH 1
- PRPF39 1
- PRUNE2 1
- PSD3 1
- PTBP2 1
- PTGS2 1
- PTK7 1
- PTPN11 1
- PTPRB 1
- PTPRC 1
- PTPRT 1
- PXDN 1
- PYHIN1 1
- QRICH1 1
- RAB11FIP5 1
- RAB2A 1
- RAB43 1
- RAD21L1 1
- RAI1 1
- RAPGEF4 1
- RASSF5 1
- RBFOX1 1
- RBM27 1
- REEP3 1
- RERE 1
- RFX3 1
- RGS7 1
- RHOXF1 1
- RIMS3 1
- RIT2 1
- RNF135 1
- RNF38 1
- ROBO2 1
- RPL10 1
- RPS6KA2 1
- RPS6KA3 1
- SAE1 1
- SAMD11 1
- SASH1 1
- SATB2 1
- SBF1 1
- SCFD2 1
- SCN1A 1
- SCN4A 1
- SCN8A 1
- SCP2 1
- SDC2 1
- SEMA5A 1
- SERPINE1 1
- SETBP1 1
- SETD1B 1
- SETD2 1
- SETDB1 1
- SETDB2 1
- SEZ6L2 1
- SGSM3 1
- SHANK1 1
- SHOX 1
- SIN3A 1
- SLC12A5 1
- SLC1A1 1
- SLC22A15 1
- SLC22A9 1
- SLC24A2 1
- SLC25A12 1
- SLC25A27 1
- SLC25A39 1
- SLC27A4 1
- SLC29A4 1
- SLC35B1 1
- SLC38A10 1
- SLC4A10 1
- SLC6A3 1
- SLC6A4 1
- SLC6A8 1
- SLC7A3 1
- SLC7A5 1
- SLC7A7 1
- SLC9A9 1
- SLCO1B3 1
- SLITRK5 1
- SMAD4 1
- SMARCA4 1
- SMC3 1
- SMG6 1
- SNAP25 1
- SND1 1
- SNTG2 1
- SOD1 1
- SPARCL1 1
- SPP2 1
- SRGAP3 1
- SSPO 1
- SSRP1 1
- ST7 1
- ST8SIA2 1
- STK39 1
- STX1A 1
- STXBP1 1
- STXBP5 1
- STYK1 1
- SYAP1 1
- SYN1 1
- SYN2 1
- SYNCRIP 1
- SYNE1 1
- SYNJ1 1
- SYT17 1
- TAF1C 1
- TAF6 1
- TANC2 2
- TBC1D31 1
- TBC1D5 1
- TBL1X 1
- TBX1 1
- TCF4 1
- TCF7L2 1
- TDO2 1
- TECTA 1
- TERB2 1
- TERF2 1
- TET2 1
- THBS1 1
- THRA 1
- TLK2 1
- TM4SF19 1
- TMLHE 1
- TMPRSS9 2
- TOP3B 1
- TPO 1
- TRAF7 1
- TRAPPC9 1
- TRIM33 1
- TRPC6 1
- TRPM1 1
- TSC2 1
- TSHZ3 1
- TSPAN17 1
- TSPAN7 1
- TSPOAP1 1
- TTC25 2
- TTN 1
- TUBGCP5 1
- UBE2H 1
- UBE3A 1
- UBE3C 1
- UBR5 1
- UNC13A 1
- UNC79 1
- UNC80 1
- USH2A 1
- USP45 1
- USP9Y 1
- VASH1 1
- VDR 1
- VIL1 1
- VSIG4 1
- WNK3 1
- WNT1 1
- WWOX 1
- XPO1 1
- YEATS2 1
- YTHDC2 1
- YWHAE 1
- ZBTB16 1
- ZBTB20 1
- ZC3H4 1
- ZMYND11 1
- ZNF18 1
- ZNF385B 1
- ZNF462 1
- ZNF517 1
- ZNF548 1
- ZNF559 1
- ZNF626 1
- ZNF713 1
- ZNF774 1
- ZNF804A 1
- ZNF827 1
- ZWILCH 1
- RIMS2 1
STRs in panel
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Regions in panel
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This Panel is marked as Retired
Autism
Gene: RELN Green List (high evidence)
RELN (reelin)
EnsemblGeneIds (GRCh38): ENSG00000189056
EnsemblGeneIds (GRCh37): ENSG00000189056
OMIM: 600514, Gene2Phenotype
RELN is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000189056
EnsemblGeneIds (GRCh37): ENSG00000189056
OMIM: 600514, Gene2Phenotype
RELN is in 16 panels
1 review
Louise Daugherty (Genomics England Curator)
I don't know
Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/RELNThe number of ASD-specific reports that implicate a gene compared to the total number of relevant non-ASD-specific reports that mention the gene. Autism reports / Total reports : 26 / 48Created: 1 Apr 2019, 11:26 a.m.
Created: 1 Apr 2019, 11:26 a.m.
Panel version: 0.11
Panel version: 0.11
Details
- Sources
-
- Expert Review Green
- SFARI
- Phenotypes
-
- DD/NDD, ID, EPS
- OMIM
- 600514
- Clinvar variants
- Variants in RELN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Cerebellar hypoplasia
- Inherited white matter disorders
- Hereditary ataxia with onset in adulthood
- Familial Hirschsprung Disease
- Cerebral vascular malformations
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Hereditary ataxia
- White matter disorders and cerebral calcification - narrow panel
- Malformations of cortical development
History Filter Activity
1 Apr 2019, Gel status: 4
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene RELN were changed from 20442744; 28191889; 25363760; 28419454; 22542183; 17621165; 11317216 to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932
1 Apr 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes DD/NDD, ID, EPS for gene: RELN
29 Mar 2019, Gel status: 4
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene RELN were changed from to 20442744; 28191889; 25363760; 28419454; 22542183; 17621165; 11317216
29 Mar 2019, Gel status: 3
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to RELN. Rating Changed from Red List (low evidence) to Green List (high evidence)
29 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: RELN was added gene: RELN was added to Autism. Sources: SFARI Mode of inheritance for gene: RELN was set to