Bone Marrow Failure

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

Details

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

History Filter Activity

2 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jagn1 has been classified as Green List (High Evidence).

2 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jagn1 has been classified as Green List (High Evidence).

2 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: JAGN1 was added gene: JAGN1 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAGN1 were set to 25129144 Phenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022 Review for gene: JAGN1 was set to GREEN gene: JAGN1 was marked as current diagnostic