- Panels
- Newborns main panel
- DNAI2
- 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
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- AGRN 2
- AGXT 1
- AICDA 1
- AIRE 1
- AK2 1
- AKR1D1 1
- ALDH7A1 1
- ALDOB 1
- ALG14 2
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- ALPL 2
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- AMH 1
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- AP3B1 1
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- CALM2 1
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- CD320 1
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- CD55 1
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- FANCL 1
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- G6PD 1
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- GALM 1
- GATA1 1
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- GATA4 1
- GATA6 1
- GBA 2
- GCH1 1
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- HMBS 1
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- IGFALS 1
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- IL21 1
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- IL36RN 1
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- KCNQ2 3
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- MAGED2 2
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- MAP3K14 1
- MARS 1
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- MCFD2 1
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- MEFV 2
- MLH1 1
- MLYCD 1
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- MSH2 1
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- 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
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- TOP2B 1
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- TRNT1 1
- TSC1 1
- TSC2 1
- TSR2 1
- TTR 1
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- UBE2T 1
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- VKORC1 1
- WDR1 1
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- WNK4 1
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- ZNF143 1
- AP2S1 1
- APC 1
- BMPR1A 1
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- 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: DNAI2 Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000171595
EnsemblGeneIds (GRCh37): ENSG00000171595
OMIM: 605483, Gene2Phenotype
DNAI2 is in 10 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
DNAI2 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 9
- OMIM
- 605483
- Clinvar variants
- Variants in DNAI2
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes primary ciliary dyskinesia 9 for gene: DNAI2
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to DNAI2. Added phenotypes primary ciliary dyskinesia 9 for gene: DNAI2 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 DNAI2. Added phenotypes primary ciliary dyskinesia 9 for gene: DNAI2 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 DNAI2. 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: DNAI2 was added gene: DNAI2 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI2 were set to primary ciliary dyskinesia 9