- Panels
- Regression
- CLN6
Genes in panel
- AAAS 1
- AARS2 1
- ABCD1 1
- ABHD12 0
- ACER3 1
- ACO2 1
- ACOX1 1
- ADAR 0
- ADPRHL2 1
- AFG3L2 0
- AGTPBP1 1
- AHI1 0
- AIMP1 1
- ALDH5A1 0
- ALG14 1
- AMACR 0
- ANO10 0
- APOPT1 1
- APTX 0
- ARG1 1
- ARSA 1
- ASL 1
- ASPA 0
- ASS1 0
- ATAD1 1
- ATM 0
- ATN1 0
- ATP1A3 0
- ATP7A 1
- ATP7B 0
- ATP8A2 1
- BCKDHA 0
- BCKDHB 0
- BCS1L 0
- BORCS8 2
- BSCL2 1
- BTD 0
- C12orf65 0
- C19orf12 0
- CA8 1
- CACNA1A 0
- CACNA1E 1
- CAD 1
- CASK 0
- CBS 0
- CEP41 0
- CIAO1 1
- CISD2 0
- CLCN2 0
- CLCN6 1
- CLN3 0
- CLN5 0
- CLN6 0
- CLN8 0
- COASY 0
- COL4A1 0
- COQ2 0
- COQ4 0
- COQ6 0
- COQ8A 0
- COQ9 0
- COX10 1
- COX15 1
- COX20 0
- CP 1
- CPS1 0
- CSF1R 1
- CSTB 1
- CTC1 1
- CTDP1 0
- CTSA 0
- CTSD 0
- CTSF 0
- CUL4B 0
- CYP27A1 0
- D2HGDH 0
- DARS2 0
- DBT 1
- DCAF17 0
- DDB2 0
- DDC 0
- DKC1 0
- DLAT 0
- DLD 0
- DNAJC19 0
- DNAJC5 0
- DNMT1 0
- DTYMK 1
- EEFSEC 1
- EIF2AK2 1
- EIF2B1 0
- EIF2B2 0
- EIF2B3 0
- EIF2B4 0
- EIF2B5 0
- ELOVL4 0
- ELOVL5 0
- EPM2A 0
- EPRS 1
- ERCC1 0
- ERCC2 0
- ERCC3 0
- ERCC4 0
- ERCC5 0
- ERCC6 0
- ERCC8 0
- ETHE1 1
- EXOSC3 0
- FA2H 0
- FASTKD2 0
- FBXO7 0
- FDXR 1
- FGF14 0
- FOLR1 1
- FOXG1 0
- FOXRED1 0
- FTH1 3
- FTL 0
- FUCA1 1
- FXN 0
- GALC 0
- GAMT 0
- GATM 1
- GBA 0
- GBA2 1
- GBE1 0
- GCDH 0
- GCH1 0
- GCLC 1
- GFAP 0
- GLA 0
- GLB1 0
- GNS 0
- GOSR2 0
- GRID2 0
- GRM1 0
- H3F3A 1
- H3F3B 1
- HEXA 0
- HEXB 0
- HGSNAT 1
- HIBCH 1
- HLCS 0
- HMBS 1
- HPDL 2
- HPRT1 0
- HSD17B10 1
- HSD17B4 0
- HTRA1 0
- IFIH1 1
- IREB2 1
- IRF2BPL 1
- ISCA1 1
- ISCA2 1
- ITM2B 0
- ITPR1 0
- IVD 0
- KCNA1 0
- KCNC3 0
- KCND3 0
- KCNJ10 0
- KCTD7 1
- KIF1A 0
- KIF7 0
- L2HGDH 0
- LAMA1 0
- LETM1 1
- LIAS 0
- LMNB1 0
- LNPK 1
- LRPPRC 0
- LRRK2 0
- MAN2B1 1
- MAPT 0
- MARS2 0
- MCEE 0
- MECP2 0
- MFSD8 1
- MMAA 0
- MMAB 0
- MMACHC 0
- MMADHC 0
- MRE11 0
- MTHFR 0
- MTTP 0
- MUT 0
- NAA60 1
- NAE1 1
- NAGLU 0
- NAXD 1
- NAXE 1
- NDUFA1 0
- NDUFA10 2
- NDUFA12 1
- NDUFA2 1
- NDUFAF2 2
- NDUFAF3 1
- NDUFAF5 0
- NDUFAF6 0
- NDUFS1 1
- NDUFS2 1
- NDUFS3 1
- NDUFS4 0
- NDUFS7 0
- NDUFS8 0
- NDUFV1 0
- NDUFV2 1
- NEU1 0
- NHLRC1 1
- NHLRC2 1
- NOTCH3 0
- NPC1 0
- NPC2 0
- NPHP1 0
- NRROS 1
- NUBPL 1
- NUP214 1
- OFD1 0
- OPA1 0
- OPHN1 0
- OTC 0
- PANK2 0
- PARK7 0
- PC 0
- PCCA 0
- PCCB 0
- PDGFB 0
- PDGFRB 0
- PDHA1 0
- PDHB 0
- PDHX 0
- PDP1 0
- PDSS2 0
- PDYN 0
- PEX7 0
- PHYH 0
- PLA2G6 0
- PLP1 0
- PMM2 0
- PMPCB 0
- PNPLA6 0
- POLG 0
- POLG2 0
- POLR3A 0
- POLR3B 0
- POLR3K 1
- PPT1 0
- PRKN 0
- PRPS1 0
- PRRT2 0
- PSAP 0
- PSMF1 1
- PTPN23 0
- PTS 0
- RARS2 0
- RNASEH2A 0
- RNASEH2B 0
- RNASEH2C 0
- RNF13 1
- RNF216 0
- RNH1 3
- RNU7-1 2
- RPGRIP1L 0
- RRM2B 0
- SACS 0
- SAMHD1 0
- SATB1 2
- SCARB2 0
- SCN3A 0
- SCO2 0
- SEPSECS 0
- SERPINI1 1
- SETX 0
- SGSH 0
- SHANK3 1
- SIL1 0
- SLC17A5 0
- SLC19A3 0
- SLC25A15 0
- SLC25A4 0
- SLC25A42 1
- SLC2A1 0
- SLC30A10 1
- SLC33A1 1
- SLC39A14 1
- SLC44A1 1
- SLC5A6 1
- SLC6A19 0
- SLC6A3 0
- SLC6A8 0
- SLC9A6 0
- SOD1 1
- SPG11 1
- SPR 0
- SPTBN2 0
- SQSTM1 1
- ST3GAL5 1
- STUB1 0
- SUCLA2 0
- SUMF1 0
- SURF1 0
- SYNE1 0
- SYNJ1 0
- TBCD 1
- TBCE 1
- TCF4 0
- TCTN3 0
- TH 0
- TIMM8A 0
- TMEM240 0
- TOR1A 0
- TPK1 0
- TPP1 1
- TRAK1 0
- TRAPPC11 0
- TRAPPC12 1
- TRAPPC6B 1
- TREX1 0
- TSEN2 0
- TSEN54 0
- TTBK2 0
- TTPA 0
- TTR 0
- TUBB4A 0
- TWNK 0
- TYROBP 0
- UBE3A 0
- UBQLN2 0
- UBTF 1
- UCHL1 1
- UQCRB 0
- VAC14 1
- VLDLR 0
- VPS41 1
- VPS53 0
- VRK1 0
- WDR45 0
- WDR81 0
- WFS1 0
- WWOX 0
- XPA 0
- XPC 0
- ATP2B3 1
- CACNB4 1
- CAPRIN1 1
- CCDC88C 1
- CHMP3 1
- COX14 1
- COX4I1 1
- COX6B1 1
- CRAT 1
- FBP2 1
- MTPAP 1
- NDUFA9 2
- NDUFAF1 2
- NDUFAF4 1
- NDUFS6 1
- NUP62 2
- RPIA 1
- SHQ1 1
- SLC31A1 1
- STX1A 1
- TACO1 1
- TCEAL1 2
- ZDHHC16 1
- ABCB7 1
- ALG6 1
- ANO3 1
- ARL13B 1
- ATCAY 1
- ATPAF2 1
- BOLA3 1
- C5orf42 1
- CAMTA1 1
- CC2D2A 1
- CEP290 1
- CHMP1A 1
- CIZ1 1
- COA5 1
- CSPP1 1
- CST3 1
- DRD2 2
- EEF2 1
- FUS 1
- GNAL 1
- INPP5E 1
- LSM11 2
- MMS19 1
- NDUFA11 1
- NDUFA4 1
- NDUFB3 1
- NOL3 1
- PAX6 1
- PDE6D 1
- PDSS1 1
- PET100 1
- PIK3R5 1
- PNKD 1
- PRICKLE1 1
- PRKCG 1
- PRKRA 1
- SCO1 1
- SGCE 1
- SLC1A3 1
- SLC20A2 1
- SYT1 1
- SYT14 1
- TCTN1 1
- TCTN2 1
- TDP1 1
- TGM6 1
- THAP1 1
- TMEM138 1
- TMEM216 1
- TMEM231 1
- TMEM237 1
- TMEM67 1
- TREM2 1
- TSEN34 1
- TTC21B 1
- UBR4 1
- VAMP1 1
- ZIC1 1
- ZIC4 3
- ZNF423 1
- ZNF592 1
- NOP56 1
- NOTCH2NL 2
- TBP 1
Regions in panel
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Regression
Gene: CLN6 Green List (high evidence)
CLN6 (CLN6, transmembrane ER protein)
EnsemblGeneIds (GRCh38): ENSG00000128973
EnsemblGeneIds (GRCh37): ENSG00000128973
OMIM: 606725, Gene2Phenotype
CLN6 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000128973
EnsemblGeneIds (GRCh37): ENSG00000128973
OMIM: 606725, Gene2Phenotype
CLN6 is in 15 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 606725
- Clinvar variants
- Variants in CLN6
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Regression
- Progressive Myoclonic Epilepsy
- Early-onset Dementia
- Additional findings_Paediatric
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Ataxia - paediatric
- Cerebral Palsy
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CLN6 was added gene: CLN6 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLN6 was set to Unknown