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| Neurological ciliopathies v2.6 | ZNF423 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: ZNF423. Tag Q3_22_expert_review was removed from gene: ZNF423. |
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| Neurological ciliopathies v2.6 | ZNF423 | Arina Puzriakova changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. Additional comments from reviewing GLHs: "Chaki paper from 2012 has not been well-replicated in the decade since. Some individual reports but nothing convincing. Lack of clear biallelic LOF variants reported in humans" | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v2.6 | ZNF423 | Arina Puzriakova edited their review of gene: ZNF423: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.32 | ZNF423 |
Eleanor Williams Tag Q1_22_expert_review was removed from gene: ZNF423. Tag Q3_22_rating tag was added to gene: ZNF423. Tag Q3_22_expert_review tag was added to gene: ZNF423. |
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| Neurological ciliopathies v1.32 | ZNF423 | Eleanor Williams commented on gene: ZNF423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.31 | ZNF423 | Arina Puzriakova Publications for gene: ZNF423 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.30 | ZNF423 | Arina Puzriakova Tag Q1_22_expert_review tag was added to gene: ZNF423. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.30 | ZNF423 | Arina Puzriakova commented on gene: ZNF423: There are now two unrelated families with homozygous variants and two cases with heterozygous variants in this gene associated with nephronophthisis or Joubert syndrome. Zfp423-mutant mice harbouring some variants (but not all - including one patient variant) displayed neuroanatomical abnormalities that were consistent with the human phenotype. Overall the evidence is borderline and therefore this gene will be flagged for GMS expert review to determine whether it should be upgraded to green at this stage. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.30 | ZNF423 | Arina Puzriakova reviewed gene: ZNF423: Rating: ; Mode of pathogenicity: None; Publications: 22863007, 32925911, 33323469; Phenotypes: Joubert syndrome 19, OMIM:614844, Nephronophthisis 14, OMIM:614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.30 | ZNF423 | Arina Puzriakova Phenotypes for gene: ZNF423 were changed from Nephronophthisis 14; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect; Joubert syndrome 19; Nephronophthisis 14, 614844 to Joubert syndrome 19, OMIM:614844; Nephronophthisis 14, OMIM:614844 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v0.3 | ZNF423 |
Ellen McDonagh gene: ZNF423 was added gene: ZNF423 was added to Neurological ciliopathies. Sources: Expert Review Amber Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ZNF423 were set to Nephronophthisis 14; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect; Joubert syndrome 19; Nephronophthisis 14, 614844 |
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