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Skeletal dysplasia

Gene: KIAA1217

Amber List (moderate evidence)

KIAA1217 (KIAA1217)
EnsemblGeneIds (GRCh38): ENSG00000120549
EnsemblGeneIds (GRCh37): ENSG00000120549
OMIM: 617367, Gene2Phenotype
KIAA1217 is in 2 panels

2 reviews

Michael Oldridge (NHS)

Red List (low evidence)

inheritance likely monoallelic - the reported comp het variant is present at 1.3% carrier f in asian population (the proband was from Chinese cohort).
majority of variants identified are present on gnomAD, located at non-conserved residues, some inherited from unaffected parents. The gnomAD missense constraint score for the gene is 0.29. Even if there was an association with vertebral defects it would currently be impossible to classify variants for clinical utility.
Created: 30 Jan 2021, 1:33 p.m. | Last Modified: 30 Jan 2021, 1:33 p.m.
Panel Version: 2.80

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
vertebral malformations

Publications

Eleanor Williams (Genomics England Curator)

I don't know

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, 10:38 a.m. | Last Modified: 1 Sep 2020, 10:38 a.m.
Panel Version: 2.15
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
Created: 1 Sep 2020, 10:35 a.m. | Last Modified: 1 Sep 2020, 10:39 a.m.
Panel Version: 2.15

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
vertebral malformations

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • vertebral malformations
Tags
for-review
OMIM
617367
Clinvar variants
Variants in KIAA1217
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kiaa1217 has been classified as Amber List (Moderate Evidence).

1 Sep 2020, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: KIAA1217.

1 Sep 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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