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Genes and Genomic Entities
gene-checked
224 genes and genomic entities tagged
“gene-checked”
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Gene or Genomic Entity Name
Enter a gene symbol, STR name, Region name, or the beginning of one, eg “CD” or “CD19”
224 genes and genomic entities
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Genes
STRS
Regions
ACTL6A
ADAMTS9
ALPI
AMOTL1
ANGPTL6
ARF3
ARFGEF3
ARHGAP29
ARHGAP35
BLOC1S1
BRSK2
C11orf70
C17orf62
C1orf194
C2orf69
CAMK4
CBY1
CCDC32
CCDC47
CCDC82
CDK9
CDX1
CDX2
CELA3B
CEP85L
CFHR2
CLDN5
COX16
CRIM1
CSDE1
CSNK1G1
CTNND2
CTR9
CXorf56
CYBRD1
CYP51A1
DAW1
DDX23
DGCR8
DISP1
DROSHA
DRP2
DVL2
EHBP1L1
ERGIC1
EXOC3L2
FAM149B1
FAT1
FBRSL1
FEM1C
FILIP1
FOXA2
FOXP4
GIGYF1
GINS3
GNA14
GREB1L
GSPT2
HECTD4
HMGB1
HNRNPD
HPDL
HYAL2
IKZF2
INO80
ITSN1
KCND2
KCNJ8
KCTD3
KDM2B
KDM5A
KIAA1161
KIF21B
KIF24
KIF5B
KLB
KLF7
KLHL20
LHX2
LINGO4
LMBRD2
LRRC56
MAP3K3
METTL5
MIR17HG
MMGT1
MPP5
MSL2
MT-ATP6
MT-ATP8
MT-CO1
MT-CO2
MT-CO3
MT-CYB
MT-ND1
MT-ND2
MT-ND3
MT-ND4
MT-ND4L
MT-ND5
MT-ND6
MT-RNR1
MT-TA
MT-TC
MT-TD
MT-TE
MT-TF
MT-TG
MT-TH
MT-TI
MT-TK
MT-TL1
MT-TL2
MT-TM
MT-TN
MT-TP
MT-TQ
MT-TR
MT-TS1
MT-TS2
MT-TV
MT-TW
MT-TY
MTCL1
MYH10
MYLK3
MYT1
NAF1
NCKAP1
NDUFAF8
NHLRC2
NKX2-2
NLRP2
NLRP5
NRAP
NRXN2
NTNG2
ONECUT1
OTUD7A
PAN2
PAPPA2
PITRM1
PLK1
PLXNA3
PODXL
POU3F2
PPP1R21
PRICKLE2
PROK1
PROKR1
PSMC5
PTGS1
PTPN4
RAB11A
RAB14
RBSN
RFX3
RFX4
RHEB
RNPC3
RNU12
RNU7-1
RPL23
RPL31
RPL36
RPL9
RPS15
RPS27A
RRAS
SCAMP5
SCLT1
SEMA3F
SHANK1
SHROOM3
SIM1
SIN3B
SIX2
SLC20A1
SLC25A32
SLC26A7
SLC6A20
SMARCA5
SNORA31
SNX27
SPATA5L1
SS18L1
STXBP3
SVBP
SYNCRIP
TBC1D2B
TBC1D32
TBC1D8B
TMEM163
TMEM218
TMEM222
TMEM251
TMEM63A
TMEM63C
TMEM94
TNS2
TPM4
TPSAB1
TRA2B
TRAP1
TRIM22
TRIM28
TRIM63
TRIM71
TRIT1
TTC5
TUBGCP2
TXNDC15
UPF1
USP45
WBP11
WDR37
WDR5
WNT7B
YIF1B
ZFYVE19
ZMYND8
ZNF341
ZNF808
ZNFX1
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