- Panels
- Hereditary neuropathy or pain disorder
- ISCA-37436-Gain
Genes in panel
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- AAAS 2
- AARS 8
- ABCA1 4
- ABCD1 2
- ABHD12 4
- ACOX1 3
- ADA2 2
- ADCY6 2
- ADGRG6 2
- ADPRHL2 3
- AGTPBP1 4
- AGXT 4
- AIFM1 8
- AMACR 2
- AP1S1 3
- AP5Z1 2
- APOA1 4
- APTX 8
- ARL6IP1 3
- ARSA 3
- ASAH1 2
- ATAD3A 2
- ATL1 7
- ATL3 8
- ATM 8
- ATP13A2 2
- ATP1A1 3
- ATP7A 8
- B4GALNT1 4
- BAG3 8
- BCKDHB 4
- BICD2 7
- BSCL2 8
- C12orf65 9
- C1orf194 4
- CADM3 4
- CAPN1 2
- CD59 3
- CHCHD10 6
- CLP1 2
- CNTNAP1 4
- COA7 3
- COQ7 2
- COX20 3
- COX6A1 8
- CPOX 6
- CTDP1 7
- CYP27A1 2
- CYP2U1 2
- DARS2 3
- DCTN1 8
- DHH 6
- DHTKD1 8
- DHX9 2
- DMXL2 2
- DNAJB2 7
- DNAJC3 4
- DNM2 8
- DNMT1 6
- DRP2 8
- DST 6
- DYNC1H1 8
- EGR2 8
- ELP1 7
- EMILIN1 5
- ERCC6 3
- ERCC8 3
- ETFDH 3
- EXOSC3 3
- FA2H 4
- FAH 3
- FAM126A 4
- FBLN5 5
- FDXR 3
- FGD4 8
- FICD 2
- FIG4 10
- FLVCR1 3
- FXN 10
- GALC 4
- GAN 10
- GARS 8
- GBA2 4
- GBF1 4
- GDAP1 8
- GJB1 8
- GLA 7
- GNB4 8
- GSN 3
- HADHA 8
- HADHB 7
- HARS 6
- HEXA 3
- HEXB 4
- HINT1 6
- HK1 6
- HMBS 5
- HPDL 3
- HSPB1 8
- HSPB8 8
- IARS2 4
- IGHMBP2 8
- INF2 6
- ITPR3 3
- KIF1A 7
- KIF5A 6
- LITAF 8
- LMNA 8
- LRSAM1 7
- LYST 4
- MAG 6
- MCM3AP 4
- MFN2 8
- MMACHC 4
- MME 9
- MORC2 5
- MPV17 5
- MPZ 8
- MT-ATP6 5
- MTMR2 8
- MTTP 7
- MYH14 7
- NAGA 4
- NARS 3
- NDC1 2
- NDRG1 8
- NDUFS6 3
- NEFH 3
- NEFL 8
- NEMF 2
- NFASC 3
- NGF 7
- NTRK1 9
- NUDT2 5
- OPA1 4
- OPA3 4
- PDHA1 8
- PDK3 10
- PDXK 1
- PDYN 4
- PEX10 4
- PEX7 8
- PHYH 8
- PIEZO2 3
- PIGB 3
- PLA2G16 2
- PLA2G6 3
- PLEKHG5 7
- PLP1 8
- PMM2 4
- PMP2 3
- PMP22 8
- PNKP 4
- PNPLA6 7
- PNPT1 4
- POLG 8
- POLR3A 4
- POLR3B 3
- PPOX 6
- PRDM12 5
- PRNP 7
- PRPS1 9
- PRX 8
- PTRH2 4
- RAB7A 8
- REEP1 8
- RETREG1 8
- RTN2 1
- SACS 9
- SAMD9L 3
- SARS 3
- SBF1 8
- SBF2 8
- SCARB2 4
- SCN10A 2
- SCN11A 6
- SCN9A 7
- SCO2 3
- SEPT9 7
- SETX 8
- SH3TC2 10
- SIGMAR1 5
- SLC12A6 11
- SLC25A19 4
- SLC25A46 4
- SLC52A2 7
- SLC52A3 4
- SLC5A6 3
- SLC5A7 7
- SMN1 7
- SORD 4
- SOX10 7
- SPAST 8
- SPG11 5
- SPG7 10
- SPTAN1 3
- SPTBN4 3
- SPTLC1 8
- SPTLC2 8
- SURF1 5
- SYT2 10
- TBCE 3
- TECPR2 3
- TFG 8
- TRIM2 7
- TRMT5 3
- TRPV4 8
- TTPA 6
- TTR 6
- TUBB3 7
- TWNK 8
- TYMP 8
- UBA1 3
- UCHL1 2
- VAPB 3
- VCP 8
- VPS13D 3
- VRK1 2
- VWA1 2
- WARS 3
- WNK1 7
- XK 5
- XPA 4
- YARS 9
- ZFYVE26 7
- AFG3L2 2
- ALDH18A1 2
- AMPD2 2
- ARHGAP19 2
- ARHGEF10 10
- COX18 2
- DEGS1 2
- DGUOK 2
- DSTYK 3
- FBXO38 7
- GJC2 2
- JAG1 2
- KCNA2 2
- KIF21A 2
- LRP12 3
- MAPK8IP3 3
- MFF 2
- MT-RNR1 2
- MT-TL1 2
- PIGG 2
- PRKCG 5
- PSMC3 1
- PTEN 2
- PTPN11 5
- RCC1 3
- SCYL1 2
- SUCLA2 2
- TDP1 11
- TRPA1 2
- TTC19 2
- UQCRC1 2
- VPS13A 2
- XPNPEP3 2
- XRCC1 2
- ABCC9 5
- ACTC1 5
- ACTN2 5
- ALDH3A2 5
- ANKRD1 5
- BRAF 5
- C19orf12 2
- CACNB4 5
- CASQ2 5
- CAV3 5
- CCT5 7
- CLTCL1 4
- COQ8A 5
- CRYAB 5
- CSRP3 5
- DCAF8 4
- DES 5
- DLD 2
- DMD 5
- DSC2 5
- DSG2 5
- DSP 5
- DTNA 5
- EMD 5
- ERBB3 2
- FGF14 5
- FKTN 5
- GAA 7
- GATAD1 5
- GLE1 2
- HOXD10 6
- HRAS 5
- HSPB3 7
- ITPR1 5
- JPH2 5
- JUP 5
- KARS 7
- KCNA1 5
- KCNC3 5
- KIF1B 7
- KLC2 2
- KRAS 5
- L1CAM 5
- LAMA4 5
- LAMP2 5
- LAS1L 4
- LDB3 5
- MAP2K1 5
- MAP2K2 5
- MARS 7
- MED25 7
- MRE11 5
- MT-ND6 2
- MYBPC3 5
- MYH6 5
- MYH7 5
- MYL2 5
- MYL3 5
- MYO9B 1
- MYOZ2 5
- MYPN 5
- NAGLU 4
- NEBL 5
- NEXN 5
- NIPA1 6
- NOP56 2
- NOTCH2NL 3
- NRAS 5
- PCYT2 2
- PDLIM3 5
- PKP2 5
- PLN 5
- PRKAG2 5
- RAF1 5
- RBM20 5
- RFC1 6
- RIT1 5
- RYR2 5
- SCN5A 5
- SCP2 2
- SELENOI 2
- SGCD 5
- SIL1 5
- SLC13A3 2
- SLC1A3 5
- SLC52A1 5
- SOS1 5
- SPART 5
- SPG21 5
- SPTBN2 5
- TAZ 6
- TCAP 5
- TMEM43 5
- TNNC1 5
- TNNI3 5
- TNNT2 6
- TPM1 5
- TTBK2 5
- TTN 5
- UBA5 1
- VCL 5
- WASHC5 5
- ZFYVE27 5
- C1orf94 2
- CHRNA3 1
- PLAA 2
STRs in panel
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Hereditary neuropathy or pain disorder
Region: ISCA-37436-Gain17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Gain
Green List (high evidence)
Chromosome: 17
GRCh38 Position: 14194598-15519638
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 60%
Variant types: CNV Gain
GRCh38 Position: 14194598-15519638
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 60%
Variant types: CNV Gain
1 review
Arina Puzriakova (Genomics England Curator)
Green List (high evidence)
New green region added based on ClinGen Region Curation Results (version on 05 Aug 2022) following NHS Genomic Medicine Service approval. Additional comments: About 80% of hereditary neuropathy with liability to pressure palsies (HNPP) cases associated with this recurrent region.Created: 2 Feb 2023, 3:20 p.m. | Last Modified: 2 Feb 2023, 3:20 p.m.
Panel Version: 2.19
Created: 2 Feb 2023, 3:20 p.m.
Last Modified: 2 Feb 2023, 3:20 p.m.
Panel version: 2.19
Last Modified: 2 Feb 2023, 3:20 p.m.
Panel version: 2.19
Details
- ISCA ID
- ISCA-37436-Gain
- ISCA Region Name
- 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Gain
- Chromosome
- 17
- GRCh38 Coordinates
- 14194598-15519638
- Haploinsufficiency Score
- Triplosensitivity Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Required percent of overlap
- 60%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- ClinGen
- Expert Review Green
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
- Publications
History Filter Activity
2 Feb 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications
Arina Puzriakova (Genomics England Curator)Region: ISCA-37436-Gain was added Region: ISCA-37436-Gain was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37436-Gain were set to 20301384