55 genes and genomic entities tagged
“de novo”
Find a gene or genomic entity
55 genes and genomic entities
Show
- AKAP6
- ARF3
- ATP1A2
- CACNA1C
- CAMK2D
- CBX1
- CCT6A
- CDC42
- CLCN6
- CNOT2
- CNOT9
- CTR9
- DENND5B
- DOT1L
- EIF4A2
- FEM1B
- FEM1C
- FOXP4
- FRMD5
- GABRA2
- GABRD
- GNAI1
- GRIA1
- HDAC3
- IKZF2
- KCND2
- KCNN2
- KLHL20
- LHX2
- MAP4K4
- MAST3
- MKL2
- MYH10
- PEX14
- PPFIA3
- PRPF19
- PSMC3
- RBBP5
- RNU4-2
- RPH3A
- RRAGC
- SARS
- SEMA6B
- SETD2
- SYT1
- TCEAL1
- TCF20
- TCP1
- TMEM163
- TMEM63B
- UFM1
- WASF1
- WDR5
- YWHAE
- ZFHX3
Tagged
- adult-onset
- age-specific-variation
- Autism Spectrum Disorder
- chimeric-gene
- cnv
- condition_removed
- curated_removed
- curated-variant-list
- currently-ngs-unreportable
- currently-not-available-via-GLH-non-WGS-testing
- dd_review
- deletions
- de novo
- digenic
- disputed
- dominant-negative
- drug-dosing
- drug-toxicity
- early-onset
- ensembl_ids_known_missing
- for-review
- founder-effect
- gene
- gene-checked
- gene-duplication
- gene-therapy-trial
- internal_inclusion_list_only
- loc
- locus-type-immunoglobulin-gene
- locus-type-phenotype-only
- locus-type-pseudogene
- locus-type-rna-long-non-coding
- locus-type-rna-micro
- locus-type-rna-misc
- locus-type-rna-ribosomal
- locus-type-rna-small-nuclear
- locus-type-rna-transfer
- locus-type-rna-vault
- locus-type-small-nucleolar
- locus-type-T-cell-receptor-gene
- locus-type-unknown
- microdeletion
- microduplication
- missense
- monogenic-polygenic
- mosaicism
- multifactorial
- nested STR
- new
- new-gene-name
- ngs-false-positive-region
- NGS Not Validated
- non-coding-known-pathogenic
- nucleotide-repeat-expansion
- pathogenic-synonymous
- pharmacogenetics
- polygenic
- prognosis
- promoter
- Pseudoautosomal region 1
- Pseudoautosomal region 2
- Q1_25_ demote_red
- Q1_25_ expert_review
- Q1_25_ MOI
- Q1_25_ NHS_review
- Q1_25_ promote_green
- Q1_26_demote_amber
- Q1_26_demote_red
- Q1_26_expert_review
- Q1_26_MOI
- Q1_26_NHS_review
- Q1_26_promote_green
- Q2_25_ demote_amber
- Q2_25_ demote_red
- Q2_25_expert_review
- Q2_25_ MOI
- Q2_25_ NHS_review
- Q2_25_ phenotype
- Q2_25_ promote_green
- Q3_24_demote_red
- Q3_24_expert_review
- Q3_24_MOI
- Q3_24_NHS_review
- Q3_24_promote_green
- Q3_25_demote_amber
- Q3_25_demote_red
- Q3_25_expert_review
- Q3_25_MOI
- Q3_25_NHS_review
- Q3_25_promote_green
- Q4_24_demote_red
- Q4_24_expert_review
- Q4_24_MOI
- Q4_24_NHS_review
- Q4_24_promote_green
- Q4_25_demote_amber
- Q4_25_demote_red
- Q4_25_expert_review
- Q4_25_MOI
- Q4_25_NHS_review
- Q4_25_promote_green
- recurrent-variant
- refuted
- regulatory-region
- Skewed X-inactivation
- somatic
- spec
- special_caller_only
- special_consideration
- STR
- structural-variant
- sva
- technical-limitations
- to_be_confirmed_NHSE
- treatable
- watchlist
- watchlist_moi
- x-linked-over-dominance
- y-chromosome