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Newborns main panel

Gene: JAGN1

Green List (high evidence)
JAGN1 (jagunal homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000171135
EnsemblGeneIds (GRCh37): ENSG00000171135
OMIM: 616012, Gene2Phenotype
JAGN1 is in 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 25129144 - 9 families. PMID: 32419428 - 1 case. PMID: 37120535 - 2 cases and review of previous cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Severe congenital neutropenia 6
OMIM
616012
Clinvar variants
Variants in JAGN1
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to JAGN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to JAGN1. Added phenotypes Severe congenital neutropenia 6 for gene: JAGN1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Severe congenital neutropenia 6 for gene: JAGN1

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Severe congenital neutropenia 6 for gene: JAGN1

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to JAGN1. Added phenotypes Severe congenital neutropenia 6 for gene: JAGN1 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: JAGN1 was added gene: JAGN1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal