Retinal disorders
Gene: JAG1
Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.Created: 28 Feb 2024, 6:08 p.m. | Last Modified: 28 Feb 2024, 6:08 p.m.
Panel Version: 4.77
PMID:31273345 reported the identification of three novel rare variants in JAG1 gene (c.413C>T/ p.Ala138Val, c.1415G>A/ p.Arg472His, and c.2884A>G/ p.Thr962A) in three different families with familial exudative vitreoretinopathy. There is also functional data in support of this disease association.
PMID:34185059 reported from a retrospective, observational, multicenter, study on 23 subjects with Alagille syndrome that peripheral retinal abnormalities were the most frequent ocular finding, reported in 22 subjects (96%). JAG1 variants were found in 16 of these subjects, while one patient had no variant, four patients were not tested and molecular findings were not available in two patients.
Siying Lin (Moorfields Eye Hospital) reviewed that retinal findings were seen in at least 2 unrelated patients with Alagille syndrome within their inherited retinal dystrophy clinical cohort.Created: 28 Feb 2024, 6:06 p.m. | Last Modified: 28 Feb 2024, 6:06 p.m.
Panel Version: 4.74
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome 1, OMIM:118450; exudative vitreoretinopathy, MONDO:0019516
Publications
Well-demarcated peripheral chorioretinal atrophic changes appear to be a not infrequent finding in patiets with Alagille syndrome, and these retinal findings have also been seen in at least 2 unrelated patients with Alagille syndrome within our inherited retinal dystrophy clinical cohortCreated: 21 Feb 2024, 3:25 p.m. | Last Modified: 21 Feb 2024, 4:36 p.m.
Panel Version: 4.71
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Retinal dystrophy; peripheral chorioretial atrophy; Alagille syndrome
Publications
Mode of pathogenicity
Other
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Gene: jag1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: JAG1 were changed from Alagille syndrome 1, OMIM:118450 to Alagille syndrome 1, OMIM:118450; exudative vitreoretinopathy, MONDO:0019516
Publications for gene: JAG1 were set to
Tag Q1_24_promote_green tag was added to gene: JAG1. Tag Q1_24_NHS_review tag was added to gene: JAG1.
Phenotypes for gene: JAG1 were changed from to Alagille syndrome 1, OMIM:118450
Mode of inheritance for gene: JAG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: JAG1 was added gene: JAG1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: JAG1 was set to