Activity
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| Structural eye disease v4.43 | NR6A1 |
Ida Ertmanska edited their review of gene: NR6A1: Added comment: PMID: 40774958 Rasouly et al., 2025 Large cohort with CAKUT - NR6A1 confirmed as a CAKUT gene - described 13 total cases with predicted pathogenic heterozygous NR6A1 variants identified through exome seq. Of 13 cases, 4 had both CAKUT and eye structural anomalies (e.g. coloboma), and 1 case had eye anomalies without CAKUT. Mix of LoF and missense variants. No spine anomalies reported in this cohort. PMID: 41733738 Jacquinet et al., 2026 5 affected individuals from 3 families with phenotypes including bilateral or unilateral renal agenesis/hypoplasia, along with variable congenital uterine anomalies (3/4 female individuals) and costovertebral defects associated with heterozygous deleterious variants in NR6A1: two inherited missense (c.1175T>G;p.(Met392Arg) and c.196C>T;p.(Arg66Cys)) as well as de novo loss of function c.439C>T, p.Gln147*. No ocular malformations reported in this cohort. Seq method: Trio WES / WES. Functional evidence: loss of nr6a1 orthologs (a & b) in zebrafish causes skeletal anomalies (missing vertebrae) and abnormal kidney morphology.; Changed rating: GREEN; Changed publications to: 40610405, 40774958, 41733738; Changed phenotypes to: Oculovertebral syndrome, OMIM:621277; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Structural eye disease v4.43 | NR6A1 | Ida Ertmanska Publications for gene: NR6A1 were set to 40610405 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.42 | NR6A1 | Ida Ertmanska Phenotypes for gene: NR6A1 were changed from coloboma, MONDO:0001476; microphthalmia, MONDO:0021129; Oculovertebral syndrome, OMIM:621277 to coloboma, MONDO:0001476; microphthalmia, MONDO:0021129; Oculovertebral syndrome, OMIM:621277; oculovertebral syndrome, MONDO:0979866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.41 | NR6A1 | Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 10th Apr 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.41 | NR6A1 | Ida Ertmanska Phenotypes for gene: NR6A1 were changed from coloboma, MONDO:0001476; microphthalmia, MONDO:0021129 to coloboma, MONDO:0001476; microphthalmia, MONDO:0021129; Oculovertebral syndrome, OMIM:621277 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.40 | NR6A1 |
Eleanor Williams Tag Q3_25_promote_green was removed from gene: NR6A1. Tag Q3_25_NHS_review was removed from gene: NR6A1. |
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| Structural eye disease v4.39 | NR6A1 | Eleanor Williams reviewed gene: NR6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.38 | NR6A1 |
Eleanor Williams Source NHS GMS was added to NR6A1. Source Expert Review Green was added to NR6A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v4.16 | NR6A1 | Achchuthan Shanmugasundram Classified gene: NR6A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.16 | NR6A1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.16 | NR6A1 | Achchuthan Shanmugasundram Gene: nr6a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.15 | NR6A1 | Achchuthan Shanmugasundram Phenotypes for gene: NR6A1 were changed from microphthalmia, coloboma to coloboma, MONDO:0001476; microphthalmia, MONDO:0021129 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.14 | NR6A1 | Achchuthan Shanmugasundram Publications for gene: NR6A1 were set to PMID: 40610405 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.13 | NR6A1 | Achchuthan Shanmugasundram Mode of inheritance for gene: NR6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.12 | NR6A1 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: NR6A1. Tag Q3_25_NHS_review tag was added to gene: NR6A1. |
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| Structural eye disease v4.12 | NR6A1 | Achchuthan Shanmugasundram reviewed gene: NR6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40610405; Phenotypes: coloboma, MONDO:0001476, microphthalmia, MONDO:0021129; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.9 | NR6A1 |
Siying Lin gene: NR6A1 was added gene: NR6A1 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NR6A1 were set to PMID: 40610405 Phenotypes for gene: NR6A1 were set to microphthalmia, coloboma Penetrance for gene: NR6A1 were set to Incomplete Mode of pathogenicity for gene: NR6A1 was set to Other Review for gene: NR6A1 was set to GREEN Added comment: PMID 40610405: 6 unrelated families with autosomal dominant syndromic form of colobomatous microphthalmia and missing vertebrae with or without congenital kidney abnormalities Sources: Literature |
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