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Genes and Genomic Entities
LOF/dominant-negative
0 genes and genomic entities tagged
“LOF/dominant-negative”
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Genes
STRS
Regions
Tagged
adult-onset
age-specific-variation
Autism Spectrum Disorder
chimeric-gene
cnv
curated_removed
curated-variant-list
currently-ngs-unreportable
deletions
de novo
digenic
disputed
dominant-negative
drug-dosing
drug-toxicity
early-onset
ensembl_ids_known_missing
for-review
founder-effect
gene-checked
gene-duplication
gene-therapy-trial
internal_inclusion_list_only
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-unknown
microdeletion
microduplication
missense
monogenic-polygenic
mosaicism
multifactorial
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_23_NHS_review
Q1_23_promote_green
Q1_24_demote_amber
Q1_24_demote_red
Q1_24_expert_review
Q1_24_MOI
Q1_24_NHS_review
Q1_24_phenotype
Q1_24_promote_green
Q2_23_MOI
Q2_23_NHS_review
Q2_23_promote_green
Q2_24_demote_amber
Q2_24_demote_red
Q2_24_expert_review
Q2_24_MOI
Q2_24_NHS_review
Q2_24_promote_green
Q3_23_demote_amber
Q3_23_demote_red
Q3_23_expert_review
Q3_23_MOI
Q3_23_NHS_review
Q3_23_phenotype
Q3_23_promote_green
Q4_22_demote_amber
Q4_22_expert_review
Q4_22_MOI
Q4_22_NHS_review
Q4_22_promote_green
Q4_23_demote_amber
Q4_23_demote_red
Q4_23_expert_review
Q4_23_MOI
Q4_23_NHS_review
Q4_23_promote_green
recurrent-variant
refuted
regulatory-region
Skewed X-inactivation
somatic
special_caller_only
STR
structural-variant
sva
to_be_confirmed_NHSE
treatable
watchlist
watchlist_moi
x-linked-over-dominance
y-chromosome