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| Skeletal dysplasia v2.181 | KIAA1217 | Eleanor Williams Tag for-review was removed from gene: KIAA1217. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.176 | KIAA1217 | Eleanor Williams commented on gene: KIAA1217: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been demoted to red as per reviewer recommendation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.175 | KIAA1217 |
Eleanor Williams Source Expert Review Red was added to KIAA1217. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Skeletal dysplasia v2.80 | KIAA1217 | Michael Oldridge reviewed gene: KIAA1217: Rating: RED; Mode of pathogenicity: None; Publications: 32369272; Phenotypes: vertebral malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.15 | KIAA1217 |
Eleanor Williams changed review comment from: PMID: 32369272 - Al Dhaheri et al 2020 - 10 unrelated probands with vertebral malformations. 1 proband was compound heterozygous for variants in KIAA1217, the others were all heterozygous. 9 out of 11 variants are found in gnomad but a low allele frequency. In 3 patients (including the compound het) the variants were inherited from an unaffected parent, in the other 7 patients parental DNA was not available. Sources: Literature; to: PMID: 32369272 - Al Dhaheri et al 2020 - 10 unrelated probands with vertebral malformations. 1 proband was compound heterozygous for variants in KIAA1217, the others were all heterozygous. 9 out of 11 variants are found in gnomad but a low allele frequency. In 3 patients (including the compound het) the variants were inherited from an unaffected parent, in the other 7 patients parental DNA was not available. Not associated with any phenotype in OMIM or Gene2Phenotype. Sources: Literature |
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| Skeletal dysplasia v2.15 | KIAA1217 | Eleanor Williams Classified gene: KIAA1217 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.15 | KIAA1217 | Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England clinical team rating this gene amber. Although there are 10 cases reported, the mode of inheritance and level of penterance is not clear, and it would be useful to have more information prior to diagnostic use | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.15 | KIAA1217 | Eleanor Williams Gene: kiaa1217 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.14 | KIAA1217 | Eleanor Williams Tag for-review tag was added to gene: KIAA1217. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.14 | KIAA1217 |
Eleanor Williams gene: KIAA1217 was added gene: KIAA1217 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: KIAA1217 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KIAA1217 were set to 32369272 Phenotypes for gene: KIAA1217 were set to vertebral malformations Review for gene: KIAA1217 was set to AMBER Added comment: PMID: 32369272 - Al Dhaheri et al 2020 - 10 unrelated probands with vertebral malformations. 1 proband was compound heterozygous for variants in KIAA1217, the others were all heterozygous. 9 out of 11 variants are found in gnomad but a low allele frequency. In 3 patients (including the compound het) the variants were inherited from an unaffected parent, in the other 7 patients parental DNA was not available. Sources: Literature |
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