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IBMDx study

Gene: JAGN1

Green List (high evidence)
JAGN1 (jagunal homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000171135
EnsemblGeneIds (GRCh37): ENSG00000171135
OMIM: 616012, Gene2Phenotype
JAGN1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Fourteen individuals from 9 families reported.
Sources: Expert list
Created: 2 Mar 2020, 1:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Mar 2020, 1:10 a.m.

Panel version: Imported from Bone Marrow Failure panel version 0.33

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
Phenotypes
  • Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022
OMIM
616012
Clinvar variants
Variants in JAGN1
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: JAGN1 was added gene: JAGN1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: JAGN1 was set to Unknown Phenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022