Activity
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11 actions
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| Renal ciliopathies v1.53 | ICK | Eleanor Williams Tag for-review was removed from gene: ICK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.51 | ICK | Eleanor Williams commented on gene: ICK: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.40 | ICK | Arina Puzriakova Phenotypes for gene: ICK were changed from short-rib thoracic dysplasia with polydactyly (SRTD); Endocrine-cerebroosteodysplasia, 612651; ECO to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.25 | ICK | Eleanor Williams Tag for-review tag was added to gene: ICK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.25 | ICK | Eleanor Williams Tag watchlist tag was added to gene: ICK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.23 | ICK |
Eleanor Williams edited their review of gene: ICK: Added comment: After discussion with the Genomics England clinical team it was decided this gene should be downgraded from green to amber at the next review. Evidence for a renal phenotype is borderline, with some evidence for an absence of a phenotype. PMID: 19185282 - 2 Amish families () have the same variant in ICK and 3 infants from these families showed cystically dilated tubules in both the medulla and the cortex of the kidney. PMID: 27069622 - 1 family is reported where a foetal scan showed large and hyperechogenic kidneys. PMID: 27466187 - reports a newborn with short rib polydactyly syndrome and a variant in ICK, but no renal phenotype. Two mouse knockout models (PMID: 24853502 and 24797473) also do not show a kidney phenotype.; Changed rating: AMBER; Changed publications: 19185282, 27069622, 27466187, 24853502, 24797473 |
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| Renal ciliopathies v1.0 | ICK | Zornitza Stark reviewed gene: ICK: Rating: AMBER; Mode of pathogenicity: None; Publications: 19185282, 27069622; Phenotypes: Endocrine-cerebroosteodysplasia, MIM# 612651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | ICK | Eleanor Williams commented on gene: ICK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | ICK | Eleanor Williams Tag new-gene-name tag was added to gene: ICK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v0.1 | PIBF1 |
Eleanor Williams gene: PIBF1 was added gene: PIBF1 was added to Renal ciliopathies. Sources: Research,Literature,Expert Review Red,Expert Review Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIBF1 were set to 26167768 Phenotypes for gene: PIBF1 were set to Joubert syndrome; ataxia; vermis hypoplasia; developmental delay; thick superior cerebellar peduncles; superior cerebellar dysplasia |
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| Renal ciliopathies v0.1 | ICK |
Eleanor Williams gene: ICK was added gene: ICK was added to Renal ciliopathies. Sources: Literature,Expert Review Green Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ICK were set to 19185282; 27069622; 27466187 Phenotypes for gene: ICK were set to short-rib thoracic dysplasia with polydactyly (SRTD); Endocrine-cerebroosteodysplasia, 612651; ECO |
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