Individual #00116640

ID_report 23316014-Fam12PatII1
Reference PubMed: Bornholdt 2013
Remarks 2-generation family, 2 affected males
Gender M
Consanguinity ?
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 3
Diseases IFAP syndrome with/without BRESHECK syndrome
Owner name Karl-Heinz Grzeschik
Database submission license No license selected
Created by Karl-Heinz Grzeschik


Phenotypes

IFAP syndrome with/without BRESHECK syndrome (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000092160 IFAP triad and follicular hyperkeratosis present from infancy; no hair or eyelashes; corneal ulceration; poor teeth (? caries), poor nails (? chronic fungal infection); mild global developmental delay, generalised seizures, strabismus, macrocephaly (>90th centile) and frontal bossing; IFAP syndrome - - Familial, X-linked dominant, male sparing - - - - - Karl-Heinz Grzeschik



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117139 DNA arrayCGH;SEQ;SSCA - - MBTPS2 1 Karl-Heinz Grzeschik



Variants

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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     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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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 (inferred) +?/. - likely pathogenic g.21863325G>A g.21845207G>A - - MBTPS2_000018 not in 225 control chromosomes; mapped using linkage; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness PubMed: Oeffner 2009; PubMed: Bornholdt 2012 - - Germline - - - 0 - Karl-Heinz Grzeschik MBTPS2 - - - - 3 NM_015884.3:c.261G>A - r.(?) p.Met87Ile - - - - - - - - - - - - - - - - - - -
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