72 genes and genomic entities tagged
“founder-effect”
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72 genes and genomic entities
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- ANXA11
- AP1S1
- AP3B1
- ATCAY
- CCDC174
- CCDC65
- CD8A
- CLP1
- CST3
- CTDP1
- CTPS1
- DAB1
- DBR1
- DNASE1L3
- DSTYK
- ERAL1
- ERBB3
- EXOSC8
- FOXN1
- FXYD2
- GEMIN4
- GON7
- GOSR2
- HK1
- HPS3
- HYLS1
- ISCA2
- ISCU
- ITCH
- LBX1
- LEMD2
- LRRC32
- MCM4
- MED25
- MICU1
- NUDT2
- NUP62
- PAM16
- PCDH12
- PET100
- PIGF
- PIP5K1C
- PJA1
- PLN
- POLR3K
- PRDX3
- RAP1GDS1
- RIC1
- RIPOR2
- RNASEH2C
- RUBCN
- SAG
- SGO1
- SGSM3
- SLC1A4
- SLC25A42
- SLC7A6OS
- SNIP1
- TBCB
- TDP1
- TECR
- TFRC
- TMEM126A
- TRAC
- TSPYL1
- UFSP2
- USMG5
- VAMP1
- VPS53
- XRCC1
- ZNHIT3
- ZPR1
Tagged
- adult-onset
- age-specific-variation
- Autism Spectrum Disorder
- chimeric-gene
- cnv
- condition_removed
- curated_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-c
- 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
- Q2_26_demote_amber
- Q2_26_demote_red
- Q2_26_expert_review
- Q2_26_MOI
- Q2_26_NHS_review
- Q2_26_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
- treatabl
- treatable
- watchlist
- watchlist_moi
- x-linked-over-dominance
- y-chromosome