Browse 1,000 genes
Every gene below is on the Genomics England PanelApp diagnostic-grade list. Each page surfaces HGNC nomenclature, ClinVar pathogenicity, gnomAD frequencies, AlphaFold structures, and disease links — free for clinical geneticists and researchers.
1,000 green (diagnostic)0 amber (moderate)
Featured diagnostic genes
A86
- AAAS
- AARS
- AARS2
- ABAT
- ABCB7
- ABCC6
- ABCC8
- ABCC9
- ABCD1
- ABCG5
- ABHD12
- ABHD5
- ABL1
- ACAD9
- ACADM
- ACADVL
- ACD
- ACOX1
- ACP5
- ACTA2
- ACTB
- ACTC1
- ACTG1
- ADA
- ADAR
- ADCY5
- ADGRG1
- ADGRV1
- AFG3L2
- AGK
- AGL
- AGPAT2
- AGPS
- AHI1
- AIFM1
- AIMP1
- AIPL1
- AIRE
- AKT1
- AKT2
- AKT3
- ALAS2
- ALDH18A1
- ALDH3A2
- ALDOA
- ALDOB
- ALG1
- ALG3
- ALG8
- ALG9
- ALMS1
- ALPL
- AMPD2
- ANAPC1
- ANK2
- ANO5
- AP1S2
- AP3B1
- APC
- APOPT1
- APTX
- AR
- ARG1
- ARL13B
- ARL6
- ARSA
- ARSB
- ARSE
- ARX
- ASAH1
- ASL
- ASXL1
- ATAD3A
- ATL1
- ATM
- ATN1
- ATP13A2
- ATP1A2
- ATP1A3
- ATP6V0A2
- ATP7A
- ATP7B
- ATP8A2
- ATPAF2
- ATRX
- AUH
B33
C103
- C12orf65
- C19orf12
- C2CD3
- C2orf69
- C2orf71
- C5orf42
- C8orf37
- CA5A
- CACNA1A
- CACNA1G
- CACNB4
- CARD14
- CASK
- CASR
- CAV3
- CBL
- CBS
- CC2D2A
- CCDC39
- CCDC40
- CCND2
- CDC42
- CDC73
- CDH1
- CDH23
- CDKN1B
- CDKN1C
- CDKN2A
- CENPF
- CEP120
- CEP164
- CEP290
- CEP41
- CEP83
- CFTR
- CHCHD10
- CHD7
- CHEK2
- CHKB
- CHST14
- CHST3
- CHSY1
- CISD2
- CLCN2
- CLCN5
- CLCN7
- CLDN19
- CLN3
- CLN5
- CLN6
- CLN8
- CLPB
- CLPP
- CNTNAP1
- COA7
- COASY
- COG4
- COG5
- COG7
- COL11A1
- COL11A2
- COL1A1
- COL2A1
- COL3A1
- COL4A1
- COL4A2
- COL5A1
- COL6A3
- COL9A1
- COL9A2
- COL9A3
- COQ2
- COQ4
- COQ8A
- COQ8B
- COQ9
- COX10
- COX11
- COX14
- COX15
- COX20
- COX6A1
- COX6B1
- COX7B
- CP
- CPOX
- CPS1
- CPT2
- CRB1
- CREBBP
- CRELD1
- CRX
- CRYAB
- CSF1R
- CSPP1
- CSTB
- CTC1
- CTSA
- CTSD
- CWF19L1
- CYP27A1
- CYP2U1
- CYP7B1
D51
E35
F47
G49
H33
I26
J2
K20
L34
M62
N50
O8
P95
- PALB2
- PANK2
- PARN
- PAX2
- PAX3
- PAX6
- PCCA
- PCCB
- PCDH12
- PCNT
- PDGFRA
- PDGFRB
- PDHA1
- PDHX
- PDSS1
- PET100
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PEX7
- PFKM
- PGK1
- PGM1
- PGM3
- PHGDH
- PHOX2B
- PHYH
- PI4KA
- PIGA
- PIGL
- PIK3CA
- PIK3R1
- PIK3R2
- PITX2
- PITX3
- PKD1
- PKD2
- PKHD1
- PKP2
- PLA2G6
- PLEC
- PLP1
- PMM2
- PMS2
- PNKP
- PNPLA6
- PNPLA8
- PNPT1
- POLD1
- POLE
- POLG
- POLG2
- POLR1C
- POLR3A
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- PORCN
- PPA2
- PPARG
- PPOX
- PPP1CB
- PPT1
- PQBP1
- PRF1
- PRKAG2
- PRKAR1A
- PRNP
- PROP1
- PRPS1
- PRRT2
- PSAP
- PSEN1
- PSMB8
- PTCH1
- PTEN
- PTF1A
- PTPN11
- PTS
- PUF60
- PUS1
- PYCR1
- PYGM
Q2
R47
S106
- SACS
- SALL1
- SALL4
- SAMD9
- SAMD9L
- SAMHD1
- SARS2
- SBDS
- SCLT1
- SCN1A
- SCN4A
- SCN5A
- SCN8A
- SCN9A
- SCNN1A
- SCNN1B
- SCNN1G
- SCO1
- SCO2
- SCP2
- SDCCAG8
- SDHA
- SDHAF1
- SDHAF2
- SDHB
- SDHC
- SDHD
- SEC23B
- SERAC1
- SETX
- SGSH
- SHH
- SHOC2
- SHOX
- SIL1
- SIX5
- SKI
- SKIV2L
- SLC16A2
- SLC17A5
- SLC19A2
- SLC19A3
- SLC1A3
- SLC20A2
- SLC22A5
- SLC25A1
- SLC25A15
- SLC25A19
- SLC25A20
- SLC25A38
- SLC25A4
- SLC25A46
- SLC29A3
- SLC2A1
- SLC2A2
- SLC30A10
- SLC33A1
- SLC37A4
- SLC39A14
- SLC40A1
- SLC46A1
- SLC52A2
- SLC52A3
- SLC6A3
- SLC9A6
- SLX4
- SMAD3
- SMAD4
- SMARCA4
- SMARCAL1
- SMARCB1
- SMC1A
- SMC3
- SMCHD1
- SMO
- SMPD1
- SNORD118
- SNX14
- SOS1
- SOS2
- SOX10
- SOX2
- SOX3
- SOX9
- SPATA7
- SPG11
- SPG7
- SPR
- SPRED1
- SPTAN1
- SPTLC1
- SPTLC2
- SRD5A3
- STAT1
- STAT3
- STIM1
- STK11
- STN1
- STXBP2
- SUCLA2
- SUCLG1
- SUFU
- SUMF1
- SUOX
- SURF1
- SYNE1
T70
- TACO1
- TANGO2
- TAPT1
- TAZ
- TBC1D32
- TBX3
- TBX5
- TCAP
- TCF12
- TCN2
- TCTN1
- TCTN2
- TCTN3
- TERC
- TERT
- TFR2
- TGFB2
- TGFB3
- TGFBR1
- TGFBR2
- TH
- TIMM8A
- TINF2
- TK2
- TMEM138
- TMEM216
- TMEM231
- TMEM237
- TMEM43
- TMEM5
- TMEM67
- TMEM70
- TNFRSF11A
- TNNT2
- TNXB
- TOR1A
- TP53
- TP63
- TPP1
- TREM2
- TREX1
- TRIM32
- TRIM37
- TRIT1
- TRMT10A
- TRNT1
- TRPV4
- TSC1
- TSC2
- TSEN2
- TSEN54
- TSFM
- TTC19
- TTC21B
- TTC37
- TTC7A
- TTC8
- TTN
- TTPA
- TTR
- TUBA1A
- TUBB
- TUBB2B
- TUBB3
- TUBB4A
- TWNK
- TYMP
- TYR
- TYROBP
- TYRP1