- Panels
- Monogenic hearing loss
- CNRIP1
Genes in panel
- ABHD12 3
- ACTG1 4
- ADGRV1 6
- AIFM1 2
- ALMS1 3
- AP1S1 2
- ATP11A 1
- ATP2B2 5
- ATP6V1B1 6
- ATP6V1B2 1
- BCS1L 4
- BSND 3
- CABP2 3
- CCDC50 6
- CDC14A 2
- CDH23 5
- CEACAM16 6
- CEP250 2
- CEP78 1
- CHD7 3
- CIB2 5
- CISD2 3
- CLDN14 5
- CLDN9 5
- CLPP 5
- CLRN1 5
- COCH 7
- COL11A1 3
- COL11A2 4
- COL2A1 3
- COL4A5 3
- COL9A1 3
- COL9A2 2
- COL9A3 6
- CRLS1 1
- CRYM 7
- DAP3 2
- DFNA5 6
- DFNB59 6
- DIAPH1 5
- DMXL2 4
- DNAJC3 1
- DNMT1 5
- DSPP 3
- EDN3 6
- EDNRB 6
- EPS8 3
- EPS8L2 2
- ESPN 4
- ESRRB 5
- EYA1 6
- EYA4 5
- FDXR 2
- FGF3 3
- FOXI1 7
- GATA3 4
- GGPS1 3
- GIPC3 5
- GJB2 6
- GJB6 8
- GPR156 2
- GPSM2 5
- GREB1L 3
- GRHL2 5
- GRXCR1 5
- GRXCR2 3
- HAAO 1
- HARS2 7
- HGF 7
- HOXA2 3
- HSD17B4 5
- ILDR1 5
- KARS 6
- KCNE1 5
- KCNJ10 4
- KCNJ16 2
- KCNQ1 5
- KCNQ4 5
- KIAA1024L 1
- KIT 4
- LARS2 5
- LETM1 3
- LHFPL5 5
- LHX3 3
- LMX1A 4
- LOXHD1 5
- LRTOMT 5
- MARVELD2 5
- MASP1 4
- MITF 6
- MN1 2
- MPZL2 2
- MRPL49 2
- MSRB3 5
- MT-RNR1 4
- MT-TS1 3
- MYH14 5
- MYH9 5
- MYO15A 6
- MYO3A 6
- MYO6 5
- MYO7A 5
- NLRP12 1
- OGDHL 3
- OPA1 3
- OSBPL2 3
- OTOA 5
- OTOF 5
- OTOG 5
- OTOGL 3
- P2RX2 6
- PAX2 3
- PAX3 5
- PBX1 3
- PCDH15 5
- PDZD7 4
- PKHD1L1 2
- PLS1 2
- PLXNB2 2
- PNPT1 3
- POU3F4 5
- POU4F3 5
- PRPS1 5
- PSMC3 1
- PTPRQ 6
- RDX 5
- RFC4 2
- RNF220 3
- S1PR2 3
- SALL1 3
- SALL4 3
- SERAC1 2
- SERPINB6 5
- SGPL1 1
- SIX1 5
- SLC12A2 4
- SLC17A8 6
- SLC26A4 5
- SLC26A5 5
- SLC4A11 3
- SLC52A2 3
- SLC52A3 2
- SLITRK6 3
- SMPX 5
- SOX10 5
- SPATA5 2
- SPATA5L1 4
- STRC 5
- SYNE4 3
- TBC1D24 2
- TECTA 5
- TIMM8A 4
- TMC1 5
- TMIE 5
- TMPRSS3 5
- TPRN 5
- TRIOBP 5
- TUBB4B 2
- USH1C 5
- USH1G 5
- USH2A 5
- USP48 2
- WFS1 5
- WHRN 6
- XPA 3
- ABCC1 2
- ACOX1 1
- AP1B1 1
- ARSG 1
- ATOH1 3
- CLIC5 5
- CLRN2 2
- COG4 2
- COL4A6 6
- DHRSX 6
- DIABLO 5
- DIAPH3 5
- ELMOD3 3
- ESRP1 2
- FOXF2 2
- GJB3 6
- HOMER2 2
- KDM3B 4
- KIAA0391 1
- KITLG 4
- MET 1
- MIR96 4
- MORC2 2
- MT-CO1 4
- MT-TK 3
- MT-TL1 4
- MT-TS2 3
- NARS2 3
- NTN1 3
- OXR1 1
- PDSS1 1
- PLCG1 2
- PMP22 3
- PPIP5K2 2
- PTRH2 1
- RIPOR2 8
- ROR1 2
- SNAI2 5
- SOX2 6
- SPATC1L 2
- SPNS2 2
- SPTBN4 1
- STX4 1
- STXBP3 4
- TBX2 1
- THOC1 2
- TMTC2 2
- TNC 3
- TOP2B 2
- WBP2 2
- YARS 1
- ABHD5 1
- ABR 2
- ACAN 2
- ACTB 1
- ADCY1 1
- ALDH1A2 1
- AP3D1 2
- APAF1 2
- APOPT1 2
- AQP4 2
- ARSB 1
- ATF2 2
- ATP1A2 2
- ATP6V0A4 1
- ATP8B1 2
- AXIN1 2
- BARHL1 2
- BBS1 1
- BBS4 1
- BCAP31 2
- BCR 1
- BDNF 2
- BDP1 5
- BLOC1S5 1
- BLOC1S6 1
- BMP4 2
- BSN 2
- BTD 1
- CACNA1D 1
- CACNB2 2
- CACNG2 2
- CASP3 2
- CATSPER2 2
- CD151 1
- CD164 2
- CDKN1B 2
- CDKN2D 2
- CELSR1 2
- CHRNA9 2
- CKB 2
- CLDN11 2
- CLNS1A 2
- CNRIP1 1
- COL4A3 1
- COL4A4 1
- CPLX1 2
- DACT1 1
- DDB2 2
- DDR1 2
- DIO2 2
- DIO3 2
- DLX2 2
- DLX5 2
- DMD 2
- DVL1 2
- DVL2 2
- DVL3 2
- EPHA10 1
- EPHB1 2
- EPHB2 2
- EPHB3 2
- ERAL1 1
- ERBB4 2
- ERCC1 2
- ERCC2 2
- ERCC3 2
- ERCC4 2
- ERCC5 2
- ESR2 2
- FABP4 2
- FAS 2
- FBXO2 2
- FGFR1 3
- FGFR2 2
- FGFR3 1
- FIGN 2
- FKBP14 1
- FOXC1 1
- FOXG1 2
- FZD3 2
- FZD6 2
- GBX2 2
- GFER 1
- GFI1 2
- GJA1 2
- GJA1P1 3
- GJB1 2
- GJB4 2
- GJB5 2
- GLI3 2
- GOSR2 1
- GPX1 2
- GRAP 2
- GRID1 1
- GSTM1 1
- GSTP1 1
- GSTT1 2
- GUSB 1
- HAL 1
- HARS 6
- HES1 1
- HES5 1
- HMX2 1
- HMX3 1
- HOXA1 1
- HOXB1 1
- HTRA2 3
- IFT88 1
- IGF1 1
- ITGA8 1
- JAG1 1
- JAG2 1
- KCNMA1 2
- LAMA2 1
- LARGE1 2
- LFNG 1
- LMO4 1
- LRIG3 1
- LRP2 1
- MAFB 1
- MAP1A 1
- MCOLN3 1
- MIR182 1
- MIR183 2
- MKKS 1
- MOS 1
- MPV17 1
- MSX2 1
- MTAP 1
- MYO1C 1
- MYO1F 1
- NAV2 1
- NCOA3 1
- NDP 1
- NEU1 1
- NEUROD1 1
- NEUROG1 1
- NF1 1
- NLRP3 1
- NOTCH1 1
- NOX3 1
- NOXO1 1
- NR2F1 1
- NR4A3 1
- NTF3 1
- NTRK2 1
- NTRK3 1
- OC90 1
- OTOP1 1
- OTOR 1
- OTX1 1
- OTX2 1
- PET100 1
- PHEX 1
- PIK3C2A 1
- PITX2 1
- PLEK 1
- PNOC 1
- POLD1 2
- POLH 1
- POLR1C 1
- POLR1D 1
- POU1F1 1
- PPP3R1 1
- PROP1 1
- PRRX1 1
- PRRX2 1
- PTK7 1
- RARA 1
- RARB 1
- RARG 1
- RASA1 1
- RPGR 5
- RPS6KA3 1
- SARS 2
- SCARB2 1
- SCD5 2
- SCRIB 1
- SDHD 1
- SIX5 6
- SLC12A6 1
- SLC12A7 1
- SLC19A2 1
- SLC1A3 1
- SLC29A3 3
- SLC30A4 1
- SLC33A1 1
- SLC4A7 1
- SLC9A1 1
- SMS 1
- SOBP 1
- SOD1 1
- SOX9 1
- SPINK5 1
- SPRY2 1
- ST3GAL5 1
- SYNJ2 1
- TBL1X 1
- TBX1 1
- TBX10 1
- TCF21 1
- TCOF1 1
- TGFA 1
- TGFB2 1
- THRA 1
- THRB 1
- TJP2 5
- TMEM132E 1
- TMPRSS5 1
- TNFRSF11B 1
- TRMU 1
- TRPV4 1
- TSHR 1
- TSPEAR 3
- TUB 1
- TYRP1 1
- UCN 1
- VANGL2 1
- XPC 1
- YAP1 1
- ZPR1 2
- MYO1A 5
STRs in panel
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Monogenic hearing loss
Gene: CNRIP1 Red List (low evidence)
CNRIP1 (cannabinoid receptor interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000119865
EnsemblGeneIds (GRCh37): ENSG00000119865
CNRIP1 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000119865
EnsemblGeneIds (GRCh37): ENSG00000119865
CNRIP1 is in 1 panel
1 review
Eleanor Williams (Genomics England Curator)
Red List (low evidence)
PMID: 32337552 - Lezirovitz et al 2020 ~200 Kb genomic duplication in 2p14 was found that segregates with postlingual progressive sensorineural autosomal dominant hearing loss in a large Brazilian family with 20 affected individuals (the reported DFNA58 family from PMID: 19159392). The duplication covers PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), as well as four uncharacterized long non-coding RNA genes and part of a novel protein-coding gene. Cnrip1, Plek and Ppp3r1 genes are all expressed in the adult mouse cochlea and CNRIP1 mRNA was overexpressed in affected family members.
Sources: LiteratureCreated: 2 Jul 2020, 12:10 p.m. | Last Modified: 2 Jul 2020, 12:32 p.m.
Panel Version: 2.37
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Deafness, autosomal dominant 58 MIM#615654
Publications
Created: 2 Jul 2020, 12:10 p.m.
Last Modified: 2 Jul 2020, 12:32 p.m.
Panel version: 2.35
Last Modified: 2 Jul 2020, 12:32 p.m.
Panel version: 2.35
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Phenotypes
-
- Deafness, autosomal dominant 58 MIM#615654
- Clinvar variants
- Variants in CNRIP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
2 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: CNRIP1 was added gene: CNRIP1 was added to Hearing loss. Sources: Literature Mode of inheritance for gene: CNRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CNRIP1 were set to 32337552; 19159392 Phenotypes for gene: CNRIP1 were set to Deafness, autosomal dominant 58 MIM#615654 Review for gene: CNRIP1 was set to RED