Individual #00056440

ID_report -
Reference PubMed: Watson 2016, Journal: Watson 2016
Remarks 3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents
Gender -
Consanguinity yes
Country (United Kingdom (Great Britain))
Population Caucasian
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 3
Diseases FADS
Owner name Christopher Watson


Phenotypes

akinesia, fetal, deformation sequence (FADS) (FADS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000043064 see paper; data from 3 children, died <2d, ... - - Familial, autosomal recessive 00y00m00d - 00y00m00d - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056401 DNA SEQ;SEQ-NG - - MYOD1, OTOG 4 Christopher Watson



Variants

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
5 Both (homozygous) g.132150948T>G g.132815256T>G - - SOWAHA_000001 not associated with phenotype (homozygous in unaffected mother) PubMed: Watson 2016, Journal: Watson 2016 - - Germline no - - 0 - Johan den Dunnen SOWAHA ?/. - - - - - 1 NM_175873.4:c.1635T>G - - r.(?) p.(Phe545Leu) - - - - - - - - - - - - - - - - - - - - - - -
11 Both (homozygous) g.17615244A>G g.17593697A>G - - OTOG_000001 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - Johan den Dunnen OTOG -?/. - - - - - 26 NM_001277269.1:c.3265A>G - - r.(?) p.(Ile1089Val) - - - - - - - - - - - - - - - - - - - - - - -
11 Both (homozygous) g.17741517C>A g.17719970C>A - - MYOD1_000001 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline yes - - 0 - Christopher Watson MYOD1 +/. - - - - - 1 NM_002478.4:c.188C>A - - r.(?) p.(Ser63*) - - - - - - - - - - - - - - - - - - - - - - -
11 Both (homozygous) g.18290874T>C g.18269327T>C - - SAA1_000001 not associated with phenotype (homozygous in unaffected mother) PubMed: Watson 2016, Journal: Watson 2016 - - Germline no - - 0 - Johan den Dunnen SAA1 ?/. - - - - - 3 NM_000331.4:c.224T>C - - r.(?) p.(Val75Ala) - - - - - - - - - - - - - - - - - - - - - - -
Legend