Individual #00227848

ID_report -
Reference -
Remarks -
Gender F
Consanguinity ?
Country United States
Population Mennonite
Age at death >25y (later than 25 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases Chudley-McCullough syndrome
Owner name -
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

Chudley-McCullough syndrome (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Age/Examination     

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Protein     

Owner     
0000171854 severe hearing loss; cochlear implant; no motor delay; no communicative delay; no cognitive impairment; ventriculomegaly (R>L); corpus callosum posterior agenesis; heterotopia moderate; frontal polymicrogyria presentb; cerebellar dysplasia; - - Isolated (sporadic) - - - - - -



Screenings


AscendingScreening ID     

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Technique     

Tissue     

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Genes screened     

Variants found     

Owner     
0000228937 DNA SEQ - - GPSM2 2 -



Variants

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

Allele     

Effect     

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Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Predicted     

Type/DNA     

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Legacy protein change     

Protein level     
1 Paternal (confirmed) +/? - pathogenic g.109465071del g.108922449del 1471delG (G491GfsX6) - GPSM2_000003 homozygosity mapping, exome sequencing; not in 768 control chromosomes (384 control, 384 unrelated hearing loss) PubMed: Doherty 2012 - - Unknown - - - 0 - - GPSM2 - - - - - 13 NM_013296.4:c.1473del - r.(?) p.(Phe492Serfs*5) - - - - - - - - - - - - - - - - - - - -
1 Maternal (confirmed) +/? - pathogenic g.109465071del g.108922449del 1471delG (G491GfsX6) - GPSM2_000003 homozygosity mapping, exome sequencing; not in 768 control chromosomes (384 control, 384 unrelated hearing loss) PubMed: Doherty 2012 - - Unknown - - - 0 - - GPSM2 - - - - - 13 NM_013296.4:c.1473del - r.(?) p.(Phe492Serfs*5) - - - - - - - - - - - - - - - - - - - -
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