Cataracts

Gene: KIAA1109

Red List (low evidence)

KIAA1109 (KIAA1109)
EnsemblGeneIds (GRCh38): ENSG00000138688
EnsemblGeneIds (GRCh37): ENSG00000138688
OMIM: 611565, Gene2Phenotype
KIAA1109 is in 8 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Demoted from Green to Red. KIAA1109 is associated with Alkuraya-Kucinskas syndrome and cataracts are a minor feature. As we are not aware of any cases of variants in this gene associated with isolated cataracts, it has been demoted to Red.
Created: 2 Oct 2019, 1:56 p.m. | Last Modified: 2 Oct 2019, 1:56 p.m.
Panel Version: 1.36
KIAA1109 is associated with a phenotype on OMIM and Gene2Phenotype. It is also a green gene on the Structural eye disease panel (code: 509, version 0.84), ID (code: 285, version 2.1015), Fetal anomalies panel (code: 478, version 0.339) and GES (code: 402, version 1.256). PMID: 29290337 reported on 10 unrelated families who have Alkuraya-Ku?inskas syndrome with biallelic variants in KIAA1109. 2 of 10 families (Chinese and Algerian) with affected members also having congenital cataracts. The same paper also produced a zebrafish model but there was no mention of any eye defects. PMID: 30906834 reported on a non-consanguineous African American family where two siblings had congenital neurological malformation disorder that variably presents with arthrogryposis, craniofacial and/or cardiac abnormalities. The two siblings also had congenital cataracts and were compound heterozygous for variants in this gene. There is enough evidence for this gene to be green on this panel.
Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.
Panel Version: 1.32
This gene was submitted on behalf of Graeme Black (North West GLH). Gene Symbol submitted: KIAA1109; Suggested initial gene rating: Green; Evidence for inclusion: [none provided]; Evidence for exclusion: [none provided]; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): [none provided]
Created: 28 Aug 2019, 3:42 p.m. | Last Modified: 28 Aug 2019, 3:42 p.m.
Panel Version: 1.31

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Alkuraya-Kucinskas syndrome, 617822
  • Brain atrophy, Dandy Walker and Contractures
OMIM
611565
Clinvar variants
Variants in KIAA1109
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kiaa1109 has been classified as Red List (Low Evidence).

28 Aug 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: KIAA1109 was added gene: KIAA1109 was added to Cataracts. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1109 were set to 29290337; 30906834 Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, 617822; Brain atrophy, Dandy Walker and Contractures