Individual #00324526

ID_report patient
Reference PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017
Remarks 2-generation family, 1 affected, unaffected parents
Gender M
Consanguinity no
Country Japan
Population -
Age at death >20y (later than 20 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases COD
Owner name Najlae Akhiyate
Database submission license No license selected
Created by Najlae Akhiyate


Phenotypes

dystrophy, cone (COD) (COD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Age/Examination     

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Protein     

Owner     
0000243071 see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688) cone dystrophy - Familial, autosomal recessive - 20y 06y photophobia, reduiced visual acuity - Najlae Akhiyate



Screenings


AscendingScreening ID     

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Technique     

Tissue     

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Genes screened     

Variants found     

Owner     
0000325718 DNA SEQ;SEQ-NG Blood WES POC1B 10 Najlae Akhiyate



Variants

10 entries on 1 page. Showing entries 1 - 10.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Predicted     

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CpG     

Enzyme activity     

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Legacy protein change     

Protein level     
1 Unknown +?/. - likely pathogenic (recessive) g.19571513T>G - A107C - EMC1_000067 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - - Germline - - - 0 - Johan den Dunnen EMC1 - - - - - 2 NM_015047.2:c.107A>C - r.(?) p.(Tyr36Ser) - - - - - - - - - - - - - - - - - - -
2 Unknown -?/. - likely benign g.73613319A>G - A323G - ALMS1_000637 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - - Germline - - - 0 - Johan den Dunnen ALMS1 - - - - - 1 NM_015120.4:c.323A>G - r.(?) p.(Lys108Arg) - - - - - - - - - - - - - - - - - - -
4 Unknown +?/. - VUS g.16025027C>T - G706A - PROM1_000076 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - rs536161084 Germline - - - 0 - Johan den Dunnen PROM1 - - - - - 6 NM_006017.2:c.706G>A - r.(?) p.(Val236Met) - - - - - - - - - - - - - - - - - - -
4 Unknown ?/. - VUS g.22390013G>A - C3281T - GPR125_000033 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - rs141619991 Germline - - - 0 - Johan den Dunnen GPR125 - - - - - 19 NM_145290.3:c.3281C>T - r.(?) p.(Ala1094Val) - - - - - - - - - - - - - - - - - - -
5 Unknown +?/. - likely pathogenic g.149264133T>C - A1936G - PDE6A_000060 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - rs147047715 Germline - - - 0 - Johan den Dunnen PDE6A - - - - - 16 NM_000440.2:c.1936A>G - r.(?) p.(Ile646Val) - - - - - - - - - - - - - - - - - - -
6 Unknown -?/. - likely benign g.137191089G>A - G695A - PEX7_000089 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - rs191969418 Germline - - - 0 - Johan den Dunnen PEX7 - - - - - 7 NM_000288.3:c.695G>A - r.(?) p.(Arg232Gln) - - - - - - - - - - - - - - - - - - -
11 Unknown -?/. - likely benign g.119211044_119211046del - 66_68del - C1QTNF5_000048 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - rs773046530 Germline - - - 0 - Johan den Dunnen C1QTNF5 - - - - - - NM_015645.3:c.66_68del - r.(?) p.(Asn22del) - - - - - - - - - - - - - - - - - - -
12 Paternal (inferred) +/. - likely pathogenic (recessive) g.89815012C>T g.89421235C>T G1335A - POC1B_000018 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - rs200082142 Germline - - - 0 - Najlae Akhiyate POC1B - - - - - 12 NM_172240.2:c.1355G>A - r.(?) p.(Arg452Gln) - - - - - - - - - - - - - - - - - - -
12 Maternal (confirmed) +/. - pathogenic (recessive) g.89860592G>T g.89466815G>T C987A - POC1B_000021 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - - Germline - - - 0 - Najlae Akhiyate POC1B - - - - - - NM_172240.2:c.987C>A - r.(?) p.(Tyr329*) - - - - - - - - - - - - - - - - - - -
21 Unknown +?/. - likely pathogenic (recessive) g.45750179G>A - NM_001271442:C547T - C21orf2_000023 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - rs757586462 Germline - - - 0 - Johan den Dunnen C21orf2 - - - - - 7 NM_004928.2:c.673C>T - r.(?) p.(Arg225Trp) - - - - - - - - - - - - - - - - - - -
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