24 genes and genomic entities tagged

“to_be_confirmed_NHSE”

Tagged

• adult-onset
• adverse-drug-reaction
• age-specific-variation
• anticipation
• Autism Spectrum Disorder
• CBLIF
• CFAP298
• CFAP300
• chimeric-gene
• clinical_reviewed
• cnv
• curated_removed
• curated-variant-list
• currently-ngs-unreportable
• CYBC1
• deletions
• de novo
• DIFF
• differe
• different_gene_name
• digenic
• discretionary
• disputed
• DNAAF11
• DNAAF6
• dominant-negative
• drug-contraindication
• drug-dosing
• drug-efficacy
• drug-indication
• drug-toxicity
• early-onset
• ensembl_ids_known_missing
• epigenetics
• for-review
• founder-effect
• G6PC1
• GBA1
• gene-checked
• gene_duplication
• gene-duplication
• gene-therapy-trial
• GOF
• GOF/LOF
• HJV
• IARS1
• internal_inclusion_list_only
• LARS1
• limit of detection for heteroplasmic variants is not validated for WGS testing
• 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
• LOF/dominant-negative
• MARS1
• microdeletion
• microduplication
• missense
• MMUT
• monogenic - polygenic
• monogenic-polygenic
• mosaicism
• multifactorial
• new-
• new-gene-name
• ngs-false-positive-region
• NGS Not Validated
• non-coding-known-pathogenic
• nucleotide-repeat-expansion
• ODAD1
• ODAD2
• ODAD3
• ODAD4
• pathogenic-synonymous
• pharmacogenetics
• polygenic
• prognosis
• promoter
• Pseudoautosomal region 1
• Pseudoautosomal region 2
• Q1_22_expert_review
• Q1_22_MOI
• Q1_22_NHS_review
• Q1_22_phenotype
• Q1_22_rating
• Q1_234
• Q1_23_demote_amber
• Q1_23_demote_grey
• Q1_23_demote_red
• Q1_23_expert_review
• Q1_23_MOI
• Q1_23_MOP_not_LOF
• Q1_23_MOP_other
• 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_21_expert_review
• Q2_21_MOI
• Q2_21_NHS_review
• Q2_21_phenotype
• Q2_21_rating
• Q2_22_expert_review
• Q2_22_MOI
• Q2_22_NHS_review
• Q2_22_phenotype
• Q2_22_rating
• Q2_23_demote_amber
• Q2_23_demote_grey
• Q2_23_demote_red
• Q2_23_expert_review
• 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_21_expert_review
• Q3_21_MOI
• Q3_21_NHS_review
• Q3_21_phenotype
• Q3_21_rating
• Q3_22_expert_review
• Q3_22_MOI
• Q3_22_NHS_review
• Q3_22_phenotype
• Q3_22_rating
• 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_21_expert_review
• Q4_21_MOI
• Q4_21_NHS_review
• Q4_21_phenotype
• Q4_21_rating
• Q4_22_demote_amber
• Q4_22_demote_grey
• Q4_22_demote_red
• Q4_22_expert_review
• Q4_22_MOI
• Q4_22_MOP_not_LOF
• Q4_22_MOP_other
• 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
• Q4_24_expert_review
• recurrent-variant
• refuted
• regulatory-region
• removed
• SARS1
• Schizophrenia
• single-deletion
• Skewed X-inactivation
• SKIC2
• SKIC3
• somatic
• special_caller_only
• STR
• stratified-medicine
• structural-variant
• sva
• TAFAZZIN
• to_be_confirmed_NHSE
• treatable
• trinucleotide-repeat-expansion
• watchlist
• watchlist_moi
• x-linked-over-dominance
• y-chromosome