Bone Marrow Failure
Gene: JAGN1EnsemblGeneIds (GRCh38): ENSG00000171135
EnsemblGeneIds (GRCh37): ENSG00000171135
OMIM: 616012, Gene2Phenotype
JAGN1 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Fourteen individuals from 9 families reported.
Sources: Expert listCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: jagn1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: jagn1 has been classified as Green List (High Evidence).
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