- Panels
- Hereditary neuropathy or pain disorder
- ISCA-37436-Loss
Genes in panel
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- AAAS 2
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- ABCD1 2
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- ACOX1 3
- ADA2 2
- ADCY6 2
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- ADPRHL2 3
- AGTPBP1 4
- AGXT 4
- AIFM1 8
- AMACR 2
- AP1S1 3
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- APTX 8
- ARL6IP1 3
- ARSA 3
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- ATL1 7
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- ATM 8
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- 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
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- DARS2 3
- DCTN1 8
- DHH 6
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- DMXL2 2
- DNAJB2 7
- DNAJC3 4
- DNM2 8
- DNMT1 6
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- EGR2 8
- ELP1 7
- EMILIN1 5
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- ETFDH 3
- EXOSC3 3
- FA2H 4
- FAH 3
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- FDXR 3
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- 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
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- HPDL 3
- HSPB1 8
- HSPB8 8
- IARS2 4
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- INF2 6
- ITPR3 3
- KIF1A 7
- KIF5A 6
- LITAF 8
- LMNA 8
- LRSAM1 7
- LYST 4
- MAG 6
- MCM3AP 4
- MFN2 8
- MMACHC 4
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- MORC2 5
- MPV17 5
- MPZ 8
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- MYH14 7
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- PEX10 4
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- 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
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- PRX 8
- PTRH2 4
- RAB7A 8
- REEP1 8
- RETREG1 8
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- SCN10A 2
- SCN11A 6
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- 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
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- SURF1 5
- SYT2 10
- TBCE 3
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- 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
- PLAA 2
STRs in panel
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Hereditary neuropathy or pain disorder
Region: ISCA-37436-Loss17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss
Green List (high evidence)
Chromosome: 17
GRCh38 Position: 14194598-15519638
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss
GRCh38 Position: 14194598-15519638
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss
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 70-80% of Charcot-Marie-Tooth type 1A (CMT1A) cases associated with duplications in this region.Created: 2 Feb 2023, 3:23 p.m. | Last Modified: 2 Feb 2023, 3:23 p.m.
Panel Version: 2.19
Created: 2 Feb 2023, 3:23 p.m.
Last Modified: 2 Feb 2023, 3:23 p.m.
Panel version: 2.19
Last Modified: 2 Feb 2023, 3:23 p.m.
Panel version: 2.19
Details
- ISCA ID
- ISCA-37436-Loss
- ISCA Region Name
- 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss
- Chromosome
- 17
- GRCh38 Coordinates
- 14194598-15519638
- Haploinsufficiency Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Triplosensitivity Score
- 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 Loss
- 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-Loss was added Region: ISCA-37436-Loss was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37436-Loss were set to 20301566