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  3. KIAA1217
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Fetal anomalies

Gene: KIAA1217

Red List (low evidence)
KIAA1217 (KIAA1217)
EnsemblGeneIds (GRCh38): ENSG00000120549
EnsemblGeneIds (GRCh37): ENSG00000120549
OMIM: 617367, Gene2Phenotype
KIAA1217 is in 3 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Red List (low evidence)

Not green on any panel; red on skeletal dysplasia. PMID 32369272 - rare heterozygous variants (1 nonsense, others missense) in KIAA1217 in 9/44 probands with isolated and syndromic vertebral malformations. Inherited from an unaffected parent in 3 cases; other parents not available for testing. No other reports. KIAA1217 is not predicted haploinsufficient and not missense constrained. Variants may be a risk factor for vertebral malformations but unlikely to be a monogenic cause.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
vertebral disorder, MONDO:0045002

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • vertebral disorder, MONDO:0045002
OMIM
617367
Clinvar variants
Variants in KIAA1217
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: KIAA1217 was added gene: KIAA1217 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red 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 disorder, MONDO:0045002