8 genes and genomic entities tagged

“Q2_25_expert_review”

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