Individual #00033670

ID_report -
Reference PubMed: Bax 2015
Remarks 2-generation family, 2 affecteds (F, M), unaffected carrier parents, patient GII2
Gender F
Consanguinity no
Country Netherlands
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 3
Diseases STGD
Owner name Nathalie Bax
Database submission license No license selected
Created by Nathalie Bax
Date created 2014-11-14 16:43:21 +01:00 (CET)
Date last edited 2016-07-15 11:13:47 +02:00 (CEST)


Phenotypes

Stargardt disease (STGD) (STGD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

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Owner     
0000027099 Stargardt with CRD phenotype; progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE and progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced - - Familial, autosomal recessive - - - - - Nathalie Bax



Screenings


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Variants found     

Owner     
0000033738 DNA SEQ - - ABCA4 2 Nathalie Bax



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Legacy protein change     

Protein level     
1 Paternal (confirmed) +?/. - likely pathogenic g.94486922A>G g.94021366A>G - - ABCA4_000044 - PubMed: Bax 2014 - - Germline - - - - - Nathalie Bax ABCA4 - - - - 35 NM_000350.2:c.4892T>C - r.(?) p.(Leu1631Pro) - - - - - - - - - - - - - -
1 Maternal (confirmed) ?/. - VUS g.94493000C>T g.94027444C>T V4 - ABCA4_000015 - PubMed: Bax 2014 - - Germline - - - - - Nathalie Bax ABCA4 - - - - 30i NM_000350.2:c.4539+2001G>A - r.spl p.? - - - - - - - - - - - - - -
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