Vitreoretinopathy
Gene: JAG1
JAG1 (jagged 1)
EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three families reported with rare variants in JAG1: c.413C>T p. (A138V), c.1415G>A p. (R472H), and c.2884A>G p. (T962A. Some functional data.
Sources: LiteratureCreated: 25 Apr 2020, 7:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial exudative vitreoretinopathy
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Familial exudative vitreoretinopathy
- OMIM
- 601920
- Clinvar variants
- Variants in JAG1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cholestasis
- Liver Failure_Paediatric
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Craniosynostosis
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Eye Anterior Segment Abnormalities
- Alagille syndrome
- Aortopathy_Connective Tissue Disorders
- Vitreoretinopathy
- Syndromic Retinopathy
History Filter Activity
25 Apr 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: jag1 has been classified as Amber List (Moderate Evidence).
25 Apr 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: jag1 has been classified as Amber List (Moderate Evidence).
25 Apr 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: JAG1 was added gene: JAG1 was added to Vitreoretinopathy. Sources: Literature Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JAG1 were set to 31273345 Phenotypes for gene: JAG1 were set to Familial exudative vitreoretinopathy Review for gene: JAG1 was set to AMBER