Individual #00286192

ID_report FamAusPatII3
Reference PubMed: Wilsoni 2014
Remarks 2-generation family, 3 affected brothers, unaffected heterozygous carrier mother
Gender M
Consanguinity -
Country Australia
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 3
Diseases PARK
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

Parkinson disease (PARK) (PARK)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000220048 Parkinson disease WSMN normal pregnancy/birth; delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; not able to read, able to write; no independent living; obsessional behavior; ritualistic behavior; tremor onset late childhood; postural/upper limb tremor; no choreoathetosis; no shuffling gait; no bradykinesia; no dyskinesia; no cogwheel rigidity; no hyopkinetic dysarthria; normal cerebellar function; no autism; no seizures; macrocephaly; no frontal bossing; normal eye examination; no strabismus; no iris coloboma; no hydrops; no dysmorphism; no high arched palate; no dementia; no skin depigmented papules; normal copper testing; normal blood count and chemistry; normal urine metabolic testing Familial, X-linked recessive - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000287353 DNA arraySNP - - RAB39B 1 Johan den Dunnen



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     

Codon change     

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     
X Maternal (confirmed) +/. - pathogenic (recessive) g.(?_154487526)_(154509358_154528097)del g.(?_155258241)_(155280069_155298784)del - - RAB39B_000010 - PubMed: Wilsoni 2014 - - Germline yes - - 0 - Johan den Dunnen CLIC2, RAB39B - - - - - 3i_6_, _1_2_ NM_001289.4:c.293+1_294-1_*1692[0], NM_171998.2:c.-279_*2562[0] - r.?, r.0 p.?, p.0 - - - - - - - - - - - - - - - - - - -
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