Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: KIAA1683

Green List (high evidence)

KIAA1683 (IQ motif containing N)
EnsemblGeneIds (GRCh38): ENSG00000130518
EnsemblGeneIds (GRCh37): ENSG00000130518
KIAA1683 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Literature in OMIM entry- PubMed: 36321563, 39872118, 37140151, 37184908 (>3 unrelated Chinese men with infertility due to spermatogenic failure with hom/com het variants).

New paper: i) PMID: 40437858 (2025)- novel hom p.Trp796Ter in infertile man with fertilization failure and history of two miscarriages with his partner. According to the prediction of protein conformations, it was found that the protein conformations were truncated in the mutated IQCN gene, which probably affected the function of the patient's sperm.
Sources: Expert list
Created: 29 Jul 2025, 4:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spermatogenic failure 78, #MIM 620170

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spermatogenic failure 78, #MIM 620170
Clinvar variants
Variants in KIAA1683
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kiaa1683 has been classified as Green List (High Evidence).

29 Jul 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kiaa1683 has been classified as Green List (High Evidence).

29 Jul 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIAA1683 was added gene: KIAA1683 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: KIAA1683 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1683 were set to 36321563; 39872118; 37140151; 37184908; 40437858 Phenotypes for gene: KIAA1683 were set to Spermatogenic failure 78, #MIM 620170 Review for gene: KIAA1683 was set to GREEN