VACTERL-like phenotypesGene: KIAA1217
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
Created: 1 Sep 2020, 10:41 a.m. | Last Modified: 1 Sep 2020, 10:41 a.m.
Panel Version: 1.27
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.
Created: 1 Sep 2020, 10:40 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: kiaa1217 has been classified as Amber List (Moderate Evidence).
gene: KIAA1217 was added gene: KIAA1217 was added to VACTERL-like phenotypes. 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