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Fetal anomalies

Gene: JAGN1

Amber List (moderate evidence)

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

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

I don't know

Fourteen individuals from 9 families reported with biallelic JAGN1 variants and severe congenital neutropenia. 3 had short stature, 1 had coarctation of the aorta, and 3 had hip dysplasia/ severe osteoporosis and repeated bone fractures/ bone abnormalities.
Created: 5 Jan 2022, 12:43 a.m. | Last Modified: 5 Jan 2022, 12:43 a.m.
Panel Version: 0.1813

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
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

5 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jagn1 has been classified as Amber List (Moderate Evidence).

5 Jan 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: JAGN1 were changed from SEVERE CONGENITAL NEUTROPENIA to Neutropenia, severe congenital, 6, autosomal recessive (MIM#616022)

5 Jan 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: JAGN1 were set to

5 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jagn1 has been classified as Amber List (Moderate Evidence).

24 Oct 2021, Gel status: 1

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 Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAGN1 were set to SEVERE CONGENITAL NEUTROPENIA