- Panels
- Newborns main panel
- DNAI1
- AAAS 1
- ABCB11 1
- ABCB4 1
- ABCC6 1
- ABCC8 2
- ABCD1 1
- ABCD4 1
- ACAD9 1
- ACADM 1
- ACADVL 2
- ACAT1 1
- ACOX2 1
- ADA 2
- ADA2 1
- ADAMTS13 1
- AGL 1
- AGPAT2 1
- AGRN 2
- AGXT 1
- AICDA 1
- AIRE 1
- AK2 1
- AKR1D1 1
- ALDH7A1 1
- ALDOB 1
- ALG14 2
- ALG2 2
- ALPK1 1
- ALPL 2
- AMACR 1
- AMH 1
- AMHR2 1
- AMN 1
- ANOS1 1
- AP3B1 1
- AP3D1 1
- APOA5 1
- APOB 2
- APOC2 1
- APRT 1
- AQP2 2
- ARG1 1
- ARMC4 1
- ARPC1B 1
- ARSA 2
- ARSB 1
- ASL 2
- ASS1 1
- ATP6V0A4 1
- ATP6V1B1 1
- ATP7B 1
- ATP8B1 1
- AVP 2
- AVPR2 1
- BAAT 1
- BCKDHA 1
- BCKDHB 1
- BCKDK 1
- BLNK 1
- BMP1 1
- BSCL2 1
- BTD 2
- BTK 1
- C11orf70 1
- C17orf62 1
- C2 1
- C21orf59 1
- C3 2
- C5 1
- C6 1
- C7 1
- C8A 1
- C8B 1
- C9 1
- CA2 1
- CA5A 1
- CAD 1
- CASR 2
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- CAVIN1 1
- CBS 1
- CCBE1 1
- CCDC103 2
- CCDC114 1
- CCDC151 1
- CCDC39 1
- CCDC40 1
- CCDC65 2
- CCNO 1
- CD247 1
- CD3D 1
- CD3E 1
- CD3G 1
- CD40 1
- CD40LG 1
- CD70 1
- CD79A 1
- CD79B 1
- CDCA7 1
- CDKN1C 2
- CEBPE 1
- CFD 1
- CFH 2
- CFI 1
- CFP 1
- CFTR 2
- CHAT 2
- CHRNA1 2
- CHRNB1 2
- CHRND 2
- CHRNE 2
- CIITA 1
- CLCN7 2
- CLPB 1
- COL13A1 2
- COL1A1 2
- COL1A2 2
- COL4A3 2
- COL4A4 2
- COL4A5 2
- COLQ 2
- COQ2 1
- COQ4 2
- COQ5 1
- COQ6 1
- COQ7 1
- COQ8A 1
- COQ8B 1
- COQ9 1
- CORO1A 1
- CPS1 1
- CPT1A 1
- CPT2 2
- CSF3R 1
- CTNS 2
- CTPS1 2
- CUBN 1
- CUL3 2
- CXCR4 1
- CYBA 1
- CYBB 1
- CYP11A1 2
- CYP11B1 2
- CYP11B2 1
- CYP17A1 2
- CYP24A1 1
- CYP27A1 1
- CYP27B1 1
- CYP2R1 1
- CYP7B1 2
- DBT 1
- DCLRE1C 2
- DDB2 1
- DDC 1
- DGAT1 1
- DHFR 1
- DMP1 1
- DNAAF1 1
- DNAAF2 1
- DNAAF3 1
- DNAAF4 1
- DNAAF5 1
- DNAH11 1
- DNAH5 1
- DNAH9 1
- DNAI1 1
- DNAI2 1
- DNAJC12 1
- DNAJC21 1
- DNAL1 1
- DNMT3B 1
- DOCK2 1
- DOCK8 1
- DOK7 2
- DPAGT1 2
- DRC1 1
- DUOX2 1
- DUOXA2 1
- EDA 2
- EDAR 2
- EDARADD 2
- EFL1 1
- EIF2AK3 1
- ELANE 1
- ENPP1 1
- ERCC2 2
- ERCC3 1
- ERCC5 1
- ETFA 1
- ETFB 1
- ETFDH 1
- F10 1
- F13A1 1
- F13B 1
- F2 1
- F5 1
- F7 2
- F8 2
- F9 2
- FAH 1
- FAM111A 1
- FBP1 1
- FCHO1 1
- FECH 2
- FERMT3 1
- FGA 1
- FGB 1
- FGF23 2
- FGG 1
- FKBP10 1
- FLAD1 1
- FOLR1 1
- FOXE1 1
- FOXJ1 1
- FOXN1 2
- FOXP3 1
- G6PC 1
- G6PC3 1
- GAA 2
- GALE 1
- GALK1 1
- GALNS 1
- GALNT3 1
- GALT 1
- GAMT 2
- GAS8 2
- GATA3 1
- GATM 2
- GCDH 1
- GCK 2
- GCM2 1
- GFI1 1
- GFPT1 2
- GH1 2
- GHR 1
- GHRHR 1
- GIF 1
- GLIS3 1
- GLUD1 1
- GNRH1 1
- GP1BA 2
- GP1BB 2
- GP9 2
- GPIHBP1 1
- GPR101 2
- GRHPR 1
- GUSB 1
- HADH 1
- HADHA 1
- HADHB 1
- HAX1 1
- HBB 2
- HELLS 1
- HESX1 1
- HK1 2
- HLCS 1
- HMGCL 1
- HMGCS2 1
- HOGA1 1
- HSD11B2 1
- HSD3B2 2
- HSD3B7 1
- HYDIN 1
- IDS 1
- IDUA 2
- IFITM5 2
- IFNGR1 2
- IFNGR2 1
- IGF1 1
- IGHM 1
- IGLL1 1
- IGSF1 1
- IKBKB 1
- IL10 1
- IL10RA 1
- IL10RB 1
- IL12B 1
- IL12RB1 1
- IL2RA 1
- IL2RB 1
- IL2RG 2
- IL7R 2
- INS 2
- IRAK4 1
- IRF8 1
- IRS4 1
- ITCH 1
- ITGA2B 2
- ITGB2 1
- ITGB3 2
- ITK 1
- IVD 1
- IYD 1
- JAGN1 1
- JAK3 2
- KCNJ1 1
- KCNJ11 2
- KDELR2 1
- KISS1R 1
- KLHL3 2
- LAT 1
- LCK 1
- LCT 1
- LDLR 2
- LDLRAP1 1
- LEP 1
- LEPR 2
- LHX3 1
- LIG1 1
- LIG4 1
- LIPA 2
- LMBRD1 1
- LMF1 1
- LPIN1 1
- LPL 1
- LRP5 2
- LRRC56 1
- LRRC6 1
- LYST 1
- MAGT1 2
- MAN2B1 1
- MC2R 1
- MCEE 1
- MCIDAS 1
- MCM4 2
- MESD 1
- MMAA 1
- MMAB 1
- MMACHC 1
- MMADHC 2
- MPI 1
- MPL 1
- MRAP 1
- MSN 1
- MTHFD1 1
- MTHFR 1
- MTR 1
- MTRR 1
- MTTP 1
- MUSK 2
- MUT 1
- MYD88 1
- MYSM1 1
- NAGS 2
- NBN 1
- NCF2 1
- NCF4 1
- NEUROD1 1
- NEUROG3 1
- NFKBIA 1
- NHEJ1 1
- NLRP3 2
- NNT 1
- NR0B1 2
- NR3C2 1
- NR5A1 2
- OAS1 1
- OAT 1
- OTC 2
- OTOF 2
- OXCT1 1
- PAH 2
- PAX1 1
- PAX8 1
- PCCA 1
- PCCB 1
- PCK1 1
- PCSK1 1
- PDHA1 1
- PDSS1 1
- PDSS2 1
- PGM1 1
- PHEX 2
- PHKA2 1
- PHKG2 1
- PIH1D3 2
- PIK3R1 1
- PKLR 1
- PLOD2 1
- PLPBP 1
- PLS3 2
- PNP 1
- PNPO 1
- POLA1 1
- POLE 2
- POLH 1
- POMC 1
- POR 2
- POU1F1 2
- PPOX 1
- PREPL 2
- PRF1 1
- PRKDC 1
- PROK2 1
- PROP1 1
- PSTPIP1 1
- PTF1A 1
- PTH 1
- PTPRC 1
- PTS 1
- PYGL 1
- QDPR 1
- RAB27A 1
- RAG1 2
- RAG2 2
- RAPSN 2
- RASGRP1 1
- RB1 1
- REST 1
- RET 3
- RFX5 1
- RFXANK 1
- RFXAP 1
- RNPC3 1
- RPE65 2
- RPL11 1
- RPL15 1
- RPL26 1
- RPL35A 1
- RPL5 1
- RPS10 1
- RPS17 1
- RPS19 1
- RPS24 1
- RPS26 1
- RPS29 1
- RPS7 1
- RPSA 1
- RSPH1 1
- RSPH3 1
- RSPH4A 1
- RSPH9 1
- SAMD9 2
- SAR1B 1
- SBDS 2
- SCN4A 2
- SCNN1A 1
- SCNN1B 1
- SCNN1G 1
- SERPINF1 1
- SERPINH1 1
- SGPL1 1
- SH2D1A 1
- SI 1
- SKIV2L 2
- SLC12A1 1
- SLC18A3 2
- SLC19A1 1
- SLC19A2 1
- SLC19A3 2
- SLC22A5 1
- SLC25A1 2
- SLC25A13 1
- SLC25A15 1
- SLC25A20 1
- SLC26A7 2
- SLC2A1 2
- SLC30A10 1
- SLC34A1 1
- SLC34A3 1
- SLC37A4 1
- SLC39A4 1
- SLC39A7 1
- SLC46A1 1
- SLC4A1 2
- SLC52A2 1
- SLC52A3 1
- SLC5A1 1
- SLC5A5 1
- SLC5A7 2
- SLC7A7 1
- SMARCD2 1
- SMN1 2
- SNX10 1
- SP110 1
- SPAG1 1
- SPARC 1
- SPPL2A 1
- SRP54 1
- STAR 2
- STAT1 1
- STAT2 1
- STAT3 1
- STAT5B 1
- STK4 1
- STX11 1
- STXBP2 1
- SYT2 2
- TACR3 1
- TAP1 1
- TAP2 1
- TAPBP 1
- TAT 1
- TAZ 1
- TBL1X 1
- TBX19 1
- TCF3 2
- TCIRG1 1
- TCN2 1
- TF 1
- TFRC 1
- TG 1
- TH 1
- THRA 1
- THRB 2
- TJP2 1
- TLR3 1
- TMEM38B 1
- TNFRSF11A 1
- TNFRSF11B 1
- TPK1 1
- TPO 1
- TRAC 1
- TRHR 1
- TRIM28 1
- TRPM6 1
- TSHB 1
- TSHR 1
- TTC25 1
- TTC37 2
- TTC7A 1
- TTPA 1
- UGT1A1 1
- UMPS 1
- UNC13D 1
- UNG 1
- UROD 1
- UROS 1
- USB1 1
- USP53 1
- VAMP1 2
- VDR 2
- VPS45 1
- WAS 1
- WNK1 2
- WNT1 1
- WT1 2
- XIAP 1
- XPA 1
- XPC 1
- ZAP70 1
- ZBTB24 1
- ZFYVE19 1
- ZMYND10 1
- ZNFX1 1
- ABCC9 1
- ABCG5 1
- ABCG8 1
- ACVR1 1
- ADAR 1
- AHCY 1
- AKT2 1
- ALAD 1
- ALAS2 1
- ALDH4A1 1
- ALK 1
- APOE 1
- APPL1 1
- ARMC5 1
- ATP7A 1
- BCL10 1
- BRCA1 1
- BRCA2 1
- BRIP1 1
- BSND 1
- C1QA 1
- C1QB 1
- C1QC 1
- CA12 1
- CACNA1A 1
- CACNA1C 1
- CACNA1D 1
- CACNA1H 1
- CACNA1S 1
- CALM1 1
- CALM2 1
- CALM3 1
- CARD11 1
- CARD14 1
- CASQ2 2
- CD19 1
- CD27 1
- CD320 1
- CD46 1
- CD55 1
- CD81 1
- CEL 1
- CFB 2
- CFHR1 1
- CLCN1 1
- CLCN2 1
- CLCNKB 1
- COPA 1
- CP 1
- CPOX 1
- CR2 1
- CTLA4 1
- CYB561 1
- CYP21A2 3
- DBH 1
- DGKE 1
- DICER1 1
- DIS3L2 1
- DMD 1
- DNASE2 1
- ECHS1 1
- EIF2S3 1
- ELF4 1
- EPCAM 2
- ERCC4 1
- ERCC6L2 1
- F11 1
- FANCA 1
- FANCB 1
- FANCC 1
- FANCD2 1
- FANCE 1
- FANCF 1
- FANCG 1
- FANCI 1
- FANCL 1
- FARS2 1
- FGFR3 1
- FOXA2 1
- FOXI1 1
- FUCA1 1
- FXN 1
- FXYD2 1
- G6PD 1
- GALC 1
- GALM 1
- GATA1 1
- GATA2 1
- GATA4 1
- GATA6 1
- GBA 2
- GCH1 1
- GGCX 1
- GLA 1
- GLRA1 1
- GLRB 1
- GLRX5 1
- GNAS 1
- GNE 1
- GOT2 1
- GRIN2A 1
- GYS2 1
- HAMP 1
- HAVCR2 1
- HBA1 1
- HBA2 2
- HCFC1 1
- HFE2 1
- HGD 1
- HIBCH 1
- HMBS 1
- HNF1A 1
- HNF1B 1
- HOXA11 1
- HSCB 1
- HSPA9 1
- IARS 1
- ICOS 1
- IER3IP1 1
- IFIH1 1
- IGFALS 1
- IKBKG 2
- IKZF1 1
- IL1RN 1
- IL21 1
- IL21R 1
- IL36RN 1
- INSR 1
- IRF2BP2 1
- JAK1 1
- KCNA1 1
- KCNE1 1
- KCNH2 2
- KCNJ2 1
- KCNJ5 1
- KCNJ8 1
- KCNQ1 2
- KCNQ2 3
- KCNT1 2
- KDM1A 1
- KDSR 1
- LAMTOR2 1
- LARS 1
- LHX4 1
- LMAN1 1
- LMNA 1
- LPIN2 1
- LRBA 1
- LRP4 1
- LSM11 1
- MAD2L2 1
- MAGED2 2
- MALT1 1
- MAP3K14 1
- MARS 1
- MCCC1 1
- MCCC2 1
- MCFD2 1
- MECOM 1
- MEFV 2
- MLH1 1
- MLYCD 1
- MNX1 1
- MOCS1 1
- MS4A1 1
- MSH2 1
- MSH6 1
- MTHFS 1
- MVK 2
- MYO9A 1
- NAGLU 1
- NAXD 1
- NAXE 1
- NCF1 2
- NFKB1 1
- NFKB2 1
- NIPAL4 1
- NKX2-1 1
- NKX2-2 1
- NLRC4 1
- NLRP12 1
- NOD2 1
- NPC1 1
- NPC2 1
- ORAI1 1
- OTULIN 2
- PALB2 1
- PAPPA2 1
- PCSK9 1
- PDGFRB 1
- PDX1 1
- PGM3 1
- PHGDH 1
- PHKA1 1
- PHKB 1
- PHOX2B 1
- PIK3CA 2
- PIK3CD 1
- PLCG2 1
- PLG 2
- PMM2 1
- PMS2 1
- POMP 1
- PRDX1 1
- PRKCD 1
- PROKR2 1
- PRPS1 1
- PRRT2 1
- PSAP 1
- PSAT1 1
- PSMB10 1
- PSMB4 1
- PSMB8 1
- PSMB9 1
- PSMG2 1
- PSPH 1
- RAC2 1
- RAD51 1
- RAD51C 1
- REL 1
- RELA 1
- RELB 1
- RFWD3 1
- RFX6 1
- RMRP 1
- RNASEH2A 1
- RNASEH2B 1
- RNASEH2C 1
- RNU7-1 1
- RPL18 1
- RPL27 1
- RPL31 2
- RPL35 1
- RPS15A 1
- RPS27 1
- RPS28 1
- RPS9 1
- RYR2 1
- SAMD9L 2
- SAMHD1 1
- SARS 1
- SCN1A 3
- SCN2A 3
- SCN3A 1
- SCN5A 2
- SCN8A 3
- SERPINA1 1
- SERPING1 2
- SFTPC 1
- SLC13A5 1
- SLC16A1 1
- SLC16A2 1
- SLC18A2 1
- SLC1A3 1
- SLC25A38 1
- SLC26A3 2
- SLC26A4 1
- SLC2A2 1
- SLC35A2 1
- SLC35C1 1
- SLC39A14 1
- SLC39A8 1
- SLC40A1 1
- SLC4A4 1
- SLC5A6 1
- SLC6A5 1
- SLC6A6 1
- SLC6A8 1
- SLC9A3 2
- SLX4 1
- SMARCA4 1
- SMARCB1 1
- SMPD1 1
- SNAP25 1
- SORD 1
- SOX3 1
- SPINT2 2
- SPR 1
- SPTLC1 1
- SPTLC2 1
- STIM1 1
- STX16 1
- TECRL 2
- TFR2 1
- THAP11 1
- THBD 1
- TK2 1
- TMEM165 1
- TNFAIP3 1
- TNFRSF13C 1
- TNFRSF1A 2
- TOP2B 1
- TP53 1
- TPP1 2
- TRDN 2
- TREX1 1
- TRMU 1
- TRNT1 1
- TSC1 1
- TSC2 1
- TSR2 1
- TTR 1
- TXNRD2 1
- UBE2T 1
- USP18 1
- VKORC1 1
- WDR1 1
- WIPF1 1
- WNK4 1
- XRCC2 1
- ZFP57 1
- ZNF143 1
- AP2S1 1
- APC 1
- BMPR1A 1
- CHD7 1
- GNA11 1
- HFE 1
- HNF4A 1
- KL 1
- KLF11 1
- MUTYH 1
- NF1 1
- PKD1 1
- PKD2 1
- SCARB2 1
- SLC12A3 1
- SLC30A2 1
- SMAD4 1
- TNFRSF13B 1
- UCP2 1
- WDR72 1
- WFS1 1
Newborns main panel
Gene: DNAI1 Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000122735
EnsemblGeneIds (GRCh37): ENSG00000122735
OMIM: 604366, Gene2Phenotype
DNAI1 is in 11 panels
1 review
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is loss-of-function (LOF).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
DNAI1 curation results (clinicalgenome.org)Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Primary Ciliary Dyskinesia 1
- OMIM
- 604366
- Clinvar variants
- Variants in DNAI1
- Penetrance
- None
- Panels with this gene
-
- Laterality disorders and isomerism
- Paediatric disorders - additional genes
- Non-CF bronchiectasis
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- Familial pulmonary fibrosis
- Fetal anomalies
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Primary Ciliary Dyskinesia 1 for gene: DNAI1
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to DNAI1. Added phenotypes Primary Ciliary Dyskinesia 1 for gene: DNAI1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to DNAI1. Added phenotypes Primary Ciliary Dyskinesia 1 for gene: DNAI1 Rating Changed from No List (delete) to Amber List (moderate evidence)
Added New Source, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Removed was added to DNAI1. Rating Changed from Amber List (moderate evidence) to No List (delete)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Mafalda Gomes (Genomics England Curator)gene: DNAI1 was added gene: DNAI1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI1 were set to Primary Ciliary Dyskinesia 1