- Panels
- Ataxia and cerebellar anomalies - narrow panel
- ISCA-46553-Loss
Genes in panel
Prev
Next
- AAAS 0
- ABCB7 2
- ABHD12 0
- ACBD6 4
- ACO2 4
- ADGRG1 0
- ADPRHL2 3
- AFG3L2 0
- AGTPBP1 2
- ALDH5A1 3
- AMPD2 0
- ANO10 0
- AP1S2 0
- APTX 0
- ARSA 0
- ASL 3
- ATAD3A 4
- ATCAY 2
- ATG7 3
- ATM 0
- ATP1A3 0
- ATP2B3 2
- ATP6V0A1 5
- ATP8A2 3
- B3GALNT2 0
- B4GAT1 2
- BBS1 3
- CA8 0
- CACNA1A 2
- CACNA1G 0
- CAD 3
- CAMTA1 0
- CASK 0
- CDK5 2
- CHMP1A 0
- CLCN2 2
- CLN5 3
- CLN6 0
- CLP1 3
- COA7 3
- COQ4 3
- COQ8A 0
- COX20 0
- CP 0
- CRNKL1 2
- CSTB 3
- CTBP1 1
- CWF19L1 0
- CYP27A1 0
- DAGLA 2
- DARS2 0
- DDHD2 0
- DHDDS 2
- DKC1 2
- DLG4 3
- DNAJC19 0
- DNAJC3 2
- DNAJC5 0
- DNMT1 1
- DOCK3 3
- DPYSL5 3
- EBF3 3
- EEFSEC 1
- EIF2B1 0
- EIF2B2 0
- EIF2B3 0
- EIF2B4 0
- EIF2B5 0
- ELOVL4 0
- EPM2A 0
- EXOSC3 0
- EXOSC5 3
- EXOSC8 2
- FA2H 3
- FBXL4 3
- FDXR 1
- FEM1C 2
- FGF14 0
- FKRP 0
- FKTN 0
- FLVCR1 0
- FOLR1 0
- FRMD5 2
- FTH1 10
- FXN 0
- GBA2 0
- GEMIN5 3
- GFAP 0
- GJC2 0
- GMPPB 0
- GOSR2 0
- GPAA1 0
- GRID2 2
- GRM1 1
- GRN 3
- HEATR5B 4
- HEXA 0
- HEXB 0
- HMBS 3
- INPP4A 1
- INTS11 3
- IRF2BPL 3
- ISPD 1
- ITPR1 0
- KCNA1 0
- KCNA2 3
- KCNC3 0
- KCND3 0
- KCNJ10 0
- KCNN2 2
- KIF1A 2
- KIF1C 0
- LAMA1 4
- LARGE1 0
- LARS2 2
- LETM1 2
- MAG 6
- MAPK8IP3 4
- MARS2 0
- MFSD8 3
- MINPP1 3
- MMACHC 0
- MORC2 2
- MRE11 0
- MSTO1 3
- MT-ATP6 0
- MTCL1 3
- MTFMT 3
- MTTP 0
- MVK 3
- NAXE 3
- NEU1 3
- NFASC 3
- NHLRC1 0
- NKX2-1 3
- NKX6-2 0
- NPC1 0
- NPC2 0
- NPTX1 3
- NUS1 2
- OGDHL 4
- OPA1 3
- OPA3 0
- OPHN1 0
- PAX6 0
- PDE1B 2
- PDYN 0
- PEX16 0
- PEX6 2
- PI4KA 2
- PITRM1 3
- PLA2G6 0
- PMPCA 1
- PMPCB 3
- PNKP 0
- PNPLA6 0
- PNPT1 2
- POLG 0
- POLR3A 0
- POLR3B 3
- POMGNT1 0
- POMGNT2 0
- POMT1 0
- POMT2 0
- POU4F1 3
- PRDM13 4
- PRDX3 4
- PRKCG 0
- PRNP 0
- PRRT2 0
- PTF1A 0
- PTRH2 3
- RAB3A 4
- RARS2 0
- RELN 0
- RNF170 0
- RNF216 0
- RNF220 3
- ROBO3 0
- RORA 3
- SACS 0
- SCN1A 3
- SCN2A 3
- SCN8A 5
- SCYL1 3
- SEPSECS 0
- SETX 1
- SIL1 0
- SLC17A5 3
- SLC1A3 0
- SLC25A46 3
- SLC2A1 0
- SLC44A1 3
- SLC52A2 3
- SLC9A1 3
- SLC9A6 0
- SNAP25 3
- SNX14 2
- SPG7 6
- SPR 3
- SPTAN1 3
- SPTBN2 0
- SQSTM1 3
- SRD5A3 0
- STUB1 2
- SUFU 5
- SYNE1 0
- TANGO2 3
- TBC1D23 3
- TDP2 3
- TECPR2 2
- THG1L 5
- TINF2 0
- TMEM240 0
- TMEM5 1
- TOE1 0
- TPP1 0
- TSEN2 0
- TSEN34 1
- TSEN54 0
- TTBK2 0
- TTC19 0
- TTPA 0
- TUBA1A 0
- TUBB2B 0
- TUBB3 0
- TUBB4A 1
- TWNK 0
- UBTF 3
- UCHL1 4
- VLDLR 0
- VPS13D 0
- VPS41 3
- VRK1 0
- WDR73 0
- WDR81 0
- WFS1 1
- WWOX 0
- XRCC1 3
- ABCA2 1
- ATG12 1
- ATOH1 1
- ATP6V0C 1
- CAPRIN1 2
- CHP1 2
- CLPP 2
- COASY 0
- COG5 1
- COQ5 1
- DAG1 0
- DCC 0
- EEF2 1
- EN1 2
- GLS 2
- HARS 1
- JAM2 1
- LIG3 2
- LNPK 1
- LSM7 3
- PGBD5 1
- PHGDH 0
- POLR3K 2
- PTPMT1 1
- RFXANK 2
- RNU6ATAC 1
- SKOR2 1
- SMPD4 0
- SNAPIN 1
- SVBP 2
- TERT 1
- TGM6 3
- TMEM106B 2
- TSEN15 1
- TUBA8 0
- VAMP1 0
- VPS53 0
- WSB2 2
- AARS 1
- ALAS2 0
- ATN1 1
- ATXN1 1
- ATXN10 1
- ATXN2 1
- ATXN3 1
- ATXN7 1
- ATXN8 1
- BEAN1 0
- BRF1 0
- CACNB4 0
- CCDC88C 0
- CCT5 1
- CYP2U1 3
- DAB1 2
- DMXL2 2
- DYNC1H1 0
- ELOVL5 0
- EXOSC1 2
- FMR1 3
- FRMD4A 0
- MTPAP 0
- NAGLU 0
- NMNAT2 1
- NOP56 0
- PAX2 0
- PCLO 0
- PIK3R5 0
- POMK 0
- PPP2R2B 1
- PRICKLE1 0
- RNU12 1
- RUBCN 2
- SAR1B 2
- SYT14 0
- TBP 1
- TDP1 0
- TPR 1
- TRIP4 2
- TRMT5 1
- TUBB 0
- UBR4 0
- ZFHX3 2
- ZFYVE26 0
- ZNF592 0
- JKAMP 1
- ZNF865 1
STRs in panel
Prev
Next
Regions in panel
Ataxia and cerebellar anomalies - narrow panel
Region: ISCA-46553-Loss3q24 Region (includes ZIC1) Loss
Green List (high evidence)
Chromosome: 3
GRCh38 Position: 136684193-148623326
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: 136684193-148623326
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: At least 11 patients reported plus supportive mouse model. Main phenotype is Dandy Walker malformation.Created: 2 Feb 2023, 3:24 p.m. | Last Modified: 2 Feb 2023, 3:24 p.m.
Panel Version: 3.28
Created: 2 Feb 2023, 3:24 p.m.
Last Modified: 2 Feb 2023, 3:24 p.m.
Panel version: 3.28
Last Modified: 2 Feb 2023, 3:24 p.m.
Panel version: 3.28
Details
- ISCA ID
- ISCA-46553-Loss
- ISCA Region Name
- 3q24 Region (includes ZIC1) Loss
- Chromosome
- 3
- GRCh38 Coordinates
- 136684193-148623326
- 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-46553-Loss was added Region: ISCA-46553-Loss was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46553-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-46553-Loss were set to 21204220; 15338008; 22067867; 21471554; 28503614