Activity
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| Fetal anomalies v4.192 | GFRA1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GFRA1. Tag Q3_24_NHS_review was removed from gene: GFRA1. |
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| Fetal anomalies v4.192 | GFRA1 | Achchuthan Shanmugasundram edited their review of gene: GFRA1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | GFRA1 |
Achchuthan Shanmugasundram Source NHS GMS was added to GFRA1. Source Expert Review Green was added to GFRA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.57 | GFRA1 | Achchuthan Shanmugasundram Publications for gene: GFRA1 were set to 33020172 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.56 | GFRA1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GFRA1. Tag Q3_24_NHS_review tag was added to gene: GFRA1. |
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| Fetal anomalies v4.36 | GFRA1 | Achchuthan Shanmugasundram commented on gene: GFRA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GFRA1 | Natalie Chandler reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36292572, 34737117, 33020172; Phenotypes: Renal agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.215 | GFRA1 | Arina Puzriakova Classified gene: GFRA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.215 | GFRA1 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Two unrelated families with non-syndromic bilateral renal agenesis, detected during the prenatal period, and distinct homozygous LoF variants in GFRA1. Animal models support a role in renal morphogenesis (PMID:33020172). Rating Amber awaiting further cases/clinical evidence prior to inclusion as diagnositc-grade. |
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| Fetal anomalies v1.215 | GFRA1 | Arina Puzriakova Gene: gfra1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.108 | GFRA1 |
Zornitza Stark gene: GFRA1 was added gene: GFRA1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFRA1 were set to 33020172 Phenotypes for gene: GFRA1 were set to Renal agenesis Review for gene: GFRA1 was set to AMBER Added comment: Two unrelated families reported with bi-allelic LOF variants identified in individuals with bilateral renal agenesis. GFRA1 gene encodes a receptor on the Wolffian duct that regulates ureteric bud outgrowth in the development of a functional renal system. Also relevant to the CAKUT panel. Sources: Literature |
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