Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities; Rdgca

Clinical Features

Phenotypes and symptoms related to Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities; Rdgca

  • Dementia
  • Photophobia
  • Nyctalopia
  • Pallor
  • Retinal dystrophy
  • Optic disc pallor

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities; Rdgca Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
ITM2B . Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ITM2B
Specificity
100 %
Genes
100 %
Cerebral amyloid angiopathy (sequence analysis of ITM2B gene).

By CGC Genetics in Portugal.

ITM2B
Specificity
100 %
Genes
100 %
Hereditary dementias (NGS panel for 28 genes).

By CGC Genetics in Portugal.

TYROBP, APP, PSEN1, VCP, GRN, TIMM8A, SNCB, PSEN2, MAPT, APOE, NOTCH3, SNCA, FUS, CHMP2B, TARDBP, UBQLN2, ATP13A2, DNMT1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
Dementia, familial, British type.

By Centogene AG - the Rare Disease Company in Germany.

ITM2B
Specificity
100 %
Genes
100 %
Dementia, familial, Danish type.

By Centogene AG - the Rare Disease Company in Germany.

ITM2B
Specificity
100 %
Genes
100 %
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities.

By Centogene AG - the Rare Disease Company in Germany.

ITM2B
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Frontotemporal Dementia (FTD) Panel.

By CeGaT GmbH in Germany.

PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, C9orf72, NOTCH3, ATXN2, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2, TBK1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Dementia all Panel.

By CeGaT GmbH in Germany.

APP, PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, APOE, C9orf72, NOTCH3, ATXN2, TBP, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Single gene testing ITM2B.

By CeGaT GmbH in Germany.

ITM2B
Specificity
100 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
NGS panel - dementia.

By Genome Diagnostics VU University Medical Center in Netherlands.

TYROBP, APP, PSEN1, OPTN, VCP, GRN, SQSTM1, SNCB, SOD1, NEFH, FIG4, PSEN2, MAPT, NOTCH3, SNCA, ALS2, SIGMAR1, FUS, SETX, CHMP2B , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
ITM2B.

By Fulgent Genetics Fulgent Genetics in United States.

ITM2B
Specificity
100 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Cerebral amyloid angiopathy,.

By Bioarray in Spain.

ITM2B
Specificity
100 %
Genes
100 %
DEMENTIA & ALZHEIMER: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

APP, PSEN1, VCP, GRN, PSEN2, MAPT, APOE, FUS, CHMP2B, TARDBP, CSF1R, TREM2, PRNP, ITM2B
Specificity
8 %
Genes
100 %
Hereditary Cerebral Amyloid Angiopathy Type 2, Sequencing ITM2B Gene.

By Reference Laboratory Genetics in Spain.

ITM2B
Specificity
100 %
Genes
100 %

Alternate names

Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities; Rdgca Is also known as ;retinal dystrophy with inner nuclear layer and ganglion cell anomalies.


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