Individual #00025487

ID_report -
Reference PubMed: Thomas 2014
Remarks 5-generation family, sister of 25439728_Fam1_IV.6
Gender F
Consanguinity yes
Country Portugal
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ID
Owner name Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)


Phenotypes

intellectual disability (ID) (ID)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Phenotype details     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000021603 - - Familial, autosomal recessive Severe cerebellar ataxia; severe intellectual disability; absent speech; coarse facial features; relative macrocephaly; brachycamptodactyly 5th finger; progressive cerebellar atrophy; Hypotonia; Talipes equinovarus; Hypo/areflexia; Short palpebral fissures; Fullness of the upper eyelid; Broad/bulbous nose; Broad deep long philtrum; Thick lip vermilions (upper/lower); Short and broad finger/toes; Elbow motion limitation; Sensorineural Hearing Loss; Pontine thinning 26y - - - - Marianne Vos (LOVD-team)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025492 DNA arraySNP;SEQ - - SNX14 1 Marianne Vos (LOVD-team)



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

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     

Legacy protein change     

Protein level     
6 Both (homozygous) +?/. - likely pathogenic g.86223575G>A g.85513857G>A - - SNX14_000001 - PubMed: Thomas 2014 - - Germline yes - - - - Marianne Vos (LOVD-team) SNX14 - - - - 26 NM_153816.3:c.2596C>T - r.(?) p.(Gln866*) - - - - - - - - - - - - - - - - - - -
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