PanelApp
Panels
Genes and Entities
Activity
Log in
Register
Genes and Genomic Entities
curated_removed
418 genes and genomic entities tagged
“curated_removed”
Find a gene or genomic entity
Gene or Genomic Entity Name
Enter a gene symbol, STR name, Region name, or the beginning of one, eg “CD” or “CD19”
418 genes and genomic entities
Show
Genes
STRS
Regions
AARS2
ABCC6
ABCC8
ACADM
ACE
ACP5
ACTRT1
AGPAT2
AGTR2
AHI1
AKAP10
AKAP9
AKT2
ALDOB
ALMS1
ANIB1
ANKS6
APC
AQP1
AQP2
AQP4
ARL13B
ARL6
ATD
ATRX
ATXN10
ATXN10_ATTCT
ATXN1_CAG
ATXN2_CAG
ATXN3_CAG
ATXN7_CAG
AVP
AVPR2
B3GALT1
B9D2
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BLK
BLM
BMPR1B
BMPR1B-AS1
BPIFB6
BRAF
BSCL2
BTK
C1orf94
C2CD3
C5orf42
C8orf37
C9orf72_GGGGCC
CANT1
CAV3
CAVIN1
CC2D2A
CCDC28B
CDK4
CDKN1C
CDKN2A
CEL
CENPF
CEP104
CEP120
CEP164
CEP290
CEP41
CEP83
CFTR
CHST14
CHST3
CIB1
COL11A1
COL11A2
COL2A1
COL9A1
COL9A2
COL9A3
COMP
COX7B
CSPP1
CSTB_CCCCGCCCCGCG
CTNNA3
CTNNB1
CTSF
CTSK
CUL7
DDR2
DDX59
DHCR24
DHCR7
DMXL2
DNAJC30
DWS
DYM
DYNC2H1
DYNC2LI1
EFNB1
EIF2AK3
ENPP1
EP300
EPHB4
ERCC6
ERCC8
EVC
EVC2
EVR3
EXT1
EXT2
FAM20C
FBN1
FBXO25
FEV
FGD1
FGF23
FGFR1
FGFR2
FGFR3
FLNA
FLNB
FMR1_CGG
FOXC2
FOXN1
FOXP3
FSHMD1A
FXN_GAA
GALNT3
GATA4
GATA6
GCK
GDF5
GGCX
GH1
GHRHR
GHSR
GJA1
GJB2
GLA
GLI2
GLI3
GLIS3
GNA11
GNAQ
GPC6
HAMP
HCCS
HESX1
HFE
HFE2
HNF1A
HNF1B
HNF4A
HPE1
HPLH1
HRAS
HSPG2
HTT_CAG
HYLS1
ICK
IER3IP1
IFT122
IFT140
IFT172
IFT27
IFT52
IFT74
IFT80
IGF1
IGF1R
IHH
IL10
IL1RN
IL2RA
IL6
INPP5E
INS
INSR
INVS
IQCB1
IRF4
ISCA-37404-Loss
ISCA-37432-Loss
ISCA-37468-Loss
ISCA-37478-Gain
ISCA-37478-Loss
JAK2
KANSL1-AS1
KAT6A
KCNJ11
KDM6A
KIAA0586
KIF22
KIF7
KLF11
KMT2D
KPNA3
KRAS
KRT17
LEF1
LGI1
LHX3
LIFR
LIPC
LMNA
LRBA
LZTFL1
MAPKBP1
MC1R
MED12
MKKS
MKS1
MLH1
MMP13
MMP9
MNX1
MSH2
MSH6
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-RNR2
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-TT
MT-TV
MT-TW
MT-TY
MTMR14
MVK
MYLK2
MYMY1
MYMY3
NBN
NDUFB11
NEK1
NEK8
NEUROD1
NEUROG3
NF1
NIPBL
NKX2-2
NKX2-5
NKX3-2
NLRP5
NOD2
NOP56_GGCCTGTT
NPHP1
NPHP3
NPHP4
NPR2
NR5A1
NRAS
NSMCE2
OBSL1
OCA5
OFD1
OPA2
OPA4
OPA5
OPA6
OPA8
PAPSS2
PAX4
PCNT
PCYT1A
PDX1
PIK3CA
PITX2
PKD2
PMS2
POC1A
PORCN
POU1F1
PPARG
PPP1R3A
PPP2R2B_CAG
PRKAR1A
PROP1
PROSC
PSMB8
PTCH1
PTCH2
PTEN
PTF1A
PTH1R
PTPN11
RAF1
RAP1GDS1
RFX6
ROR2
RPGRIP1L
RPS6KA3
RUNX2
RYR2
SAMD9
SASH1
SCLT1
SCN4B
SDCCAG8
SERPINA1
SH2B3
SH3PXD2B
SHOX2
SLC19A2
SLC25A4
SLC26A2
SLC2A2
SLC35D1
SLC39A13
SLC40A1
SMAD4
SMARCAL1
SMC1A
SMC3
SOS1
SOX2
SOX3
SOX9
SPG14
SPG16
SPG19
SPG23
SPG24
SPG25
SPG27
SPG29
SPG32
SPG34
SPG36
SPG37
SPG38
SPG41
SPINK1
SRCAP
STAT1
STAT3
STAT5B
STK11
SUFU
SULF1
TBCE
TBX5
TCF12
TCTEX1D2
TCTN1
TCTN2
TCTN3
TERT
TFR2
TGFBR1
THRB
TMC6
TMC8
TMEM107
TMEM138
TMEM216
TMEM231
TMEM237
TMEM67
TMPO
TRAF3IP1
TRIM32
TRIM37
TRIP11
TRPS1
TRPV4
TSC1
TSC2
TTC21B
TTC8
TWIST2
TXNDC15
TYR
TYRP1
UGT1A1
VDR
WDPCP
WDR19
WDR34
WDR35
WFS1
WNT5A
WRN
ZFP57
ZIC1
ZMYND15
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