Basal Ganglia Calcification, Idiopathic, 6; Ibgc6

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by Legati et al., 2015).For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM ).

Genes related to Basal Ganglia Calcification, Idiopathic, 6; Ibgc6

XPR1

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Clinical Features

Top most frequent phenotypes and symptoms related to Basal Ganglia Calcification, Idiopathic, 6; Ibgc6

Seizures
Cognitive impairment
Dysarthria
Gait disturbance
Behavioral abnormality
Dystonia
Depressivity
Dementia
Neurological speech impairment
Parkinsonism

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Basal Ganglia Calcification, Idiopathic, 6; Ibgc6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel. By Genetic Services Laboratory University of Chicago (United States). BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...) View the complete list with 150 more genes Panel complete gene list BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH, TIMM8A, NKX2-1, TPI1, TREX1, XK, XPR1, VPS35, FBXO7, ANO3, HTRA2, NPC2, PINK1, MICU1, DNAJC6, CBS, LRPPRC, BSCL2, KMT2B, PANK2, NDUFAF5, SAMHD1, APTX, DNAJC5, SLC19A3, PARK7, BCAP31, MCEE, COQ8A, MLC1, TPK1, ACY1, ARX, RNASEH2A, MMAA, IFIH1, VPS13A, MMAB, MECR, AARS, L2HGDH, TPP1, CLN3, CLN5, CLN6, TUBB4A, CLN8, THAP1, SLC39A14, AARS2, HACE1, SERAC1, FA2H, PDHX, COL4A1, ADAR, COX10, COX15, CP, UBA5, ADCY5, NDUFA12, RNASEH2C, TACO1, CSF1R, MMADHC, CTSD, CTSF, SLC30A10, C19orf12, VAC14, RNASEH2B, KCTD17, DCAF17, TTC19, CYP27A1, HEPACAM, FOXRED1, COX20, DDC, NDUFAF2, MFSD8, NDUFAF6, DNAJC12, WDR45, DLAT, TBC1D24, EARS2, TOR1AIP1, LIPT1, UQCRQ, COASY, ATP13A2, PRRT2, CLPB, TOR1A, AFG3L2, ECHS1, SDHAF1, FOXG1, FTL, FUCA1, GAMT, GCDH, GCH1, GLB1, GM2A, GNAL, GNAO1, GNB1, ALS2, GRN, HEXA, HIVEP2, HPCA, HPRT1, MDH2, MECP2, ARSA, MMUT, NDUFA10, NDUFA2, NDUFA9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NPC1, ATM, ATP1A2, ATP1A3, NUP62, PRKN, ATP7B, PDGFB, PDGFRB, PDHA1, AUH, PLA2G6, PLP1, PNKD, PNKP, POLG, PPT1, PRKRA, PSEN1, PTS, QDPR Specificity 1 % Genes 100 %
Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC20A2, XPR1, PDGFB, PDGFRB Specificity 25 % Genes 100 %
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC20A2, SLC6A3, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TWNK, TH, GIGYF2, UCHL1, XPR1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, CHCHD10 , (...) View the complete list with 48 more genes Panel complete gene list SLC20A2, SLC6A3, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TWNK, TH, GIGYF2, UCHL1, XPR1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, CHCHD10, PARK7, RAB39B, ATP6AP2, LRRK2, LYST, CLN3, SLC39A14, CHCHD2, CP, VPS13C, CSF1R, SLC30A10, C19orf12, DCAF17, ADORA1, DCTN1, DNAJC12, WDR45, DNM1L, TENM4, ATP13A2, DNAJC13, EIF4G1, PTRHD1, FTL, GBA, GCH1, GRN, DNAJB2, APP, KIF5A, MAPT, ATP1A3, PRKN, PDE10A, PDE8B, PDGFB, PDGFRB, PLA2G6, PODXL, POLG, POLG2, PRKAR1B, PRKRA, PRNP, PSEN1, PSEN2, RAB29 Specificity 2 % Genes 100 %
Basal ganglia calcification type 6, idiopathic. By Centogene AG - the Rare Disease Company (Germany). XPR1 Specificity 100 % Genes 100 %
Basal ganglia calcification Panel. By CeGaT GmbH (Germany). SLC20A2, BRAF, TBCE, TREX1, TYROBP, XPR1, CA2, PANK2, SAMHD1, TREM2, RNASEH2A, IFIH1, COL4A1, ADAR, RNASEH2C, RNASEH2B, CTC1, ERCC6, ERCC8, AIRE , (...) View the complete list with 7 more genes Panel complete gene list SLC20A2, BRAF, TBCE, TREX1, TYROBP, XPR1, CA2, PANK2, SAMHD1, TREM2, RNASEH2A, IFIH1, COL4A1, ADAR, RNASEH2C, RNASEH2B, CTC1, ERCC6, ERCC8, AIRE, FOLR1, GALC, GATA3, GFAP, PDGFB, PDGFRB, POLG Specificity 4 % Genes 100 %
Single gene testing XPR1. By CeGaT GmbH (Germany). XPR1 Specificity 100 % Genes 100 %
XPR1. By Fulgent Genetics Fulgent Genetics (United States). XPR1 Specificity 100 % Genes 100 %
Primary Familial Brain Calcification Type 6 , Sequencing XPR1 Gene. By Reference Laboratory Genetics (Spain). XPR1 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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