Individual #00088075

ID_report -
Reference -
Remarks 1 family, 1 affected child
Gender M
Consanguinity no
Country Germany
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases Ectopia lentis, isolated autosomal recessive
Owner name Andreas Laner


Phenotypes

Ectopia lentis, isolated autosomal recessive (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000067581 Ectopia lentis bilateral - - Familial - - 4y - - Andreas Laner



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000088215 DNA SEQ - - ADAMTSL4 3 Andreas Laner



Variants

3 entries on 1 page. Showing entries 1 - 3.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
1 Unknown -?/-? g.150526393G>A - - - ADAMTSL4_000012 Patient has 2 probably pathogenic mutations in ADAMTSL4 - - rs76075180 Unknown - MAF A 0,039/84 - 0 - Andreas Laner ADAMTSL4 - - - - - 6 NM_019032.4:c.926G>A - - r.(?) p.(Arg309Gln) - - - - - - - - - - - - - - - - - - -
1 Paternal (confirmed) +?/. g.150529439G>A - - - ADAMTSL4_000011 in combination with pathogenic mutation c.2594G>A; p.(Arg865His) - - - Germline - - - 0 - Andreas Laner ADAMTSL4 - - - - - 9 NM_019032.4:c.1774G>A - - r.(?) p.(Gly592Ser) - - - - - - - - - - - - - - - - - - -
1 Maternal (confirmed) +/. g.150531472G>A - - - ADAMTSL4_000010 Highly conserved nucleotide (phyloP: 5.61 [-14.1;6.4])Highly conserved amino acid, up to Opossum (considering 9 species)Small physicochemical difference between Arg and His (Grantham dist.: 29 [0-215])This variation is in protein domain: Thrombospondin, type 1 repeatAlign GVGD: C25 (GV: 0.00 - GD: 28.82)SIFT: Deleterious (score: 0) - - - Germline - - - 0 - Andreas Laner ADAMTSL4 - - - - - 14 NM_019032.4:c.2594G>A - - r.(?) p.(Arg865His) - - - - - - - - - - - - - - - - - - -
Legend