Additional findings_Adult
Gene: Katrina

Katrina (Katrina_1)
EnsemblGeneIds (GRCh38): ENSG00000137185
EnsemblGeneIds (GRCh37): ENSG00000137185
OMIM: null, Gene2Phenotype
Katrina is in 1 panel

1 review

Katrina Bell (Murdoch Children's Research Institute)

we did it!
Sources: Other
Created: 15 May 2025, 2:34 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 15 May 2025, 2:34 a.m.

Panel version: 0.168

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Other

OMIM

null

Clinvar variants

Variants in Katrina

Penetrance

Complete

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

Additional findings_Adult

History Filter Activity

15 May 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set penetrance, Set mode of pathogenicity

Katrina Bell (Murdoch Children's Research Institute)

gene: Katrina was added gene: Katrina was added to Additional findings_Adult. Sources: Other Mode of inheritance for gene: Katrina was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Penetrance for gene: Katrina were set to Complete Mode of pathogenicity for gene: Katrina was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Additional findings_Adult Gene: Katrina