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| Bilateral congenital or childhood onset cataracts v2.109 | KIAA1109 | Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; to: Added new-gene-name tag, new approved HGNC gene symbol for KIAA1109 is BLTP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.109 | KIAA1109 | Sarah Leigh Tag new-gene-name tag was added to gene: KIAA1109. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.109 | KIAA1109 | Sarah Leigh commented on gene: KIAA1109 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.36 | KIAA1109 | Ivone Leong Classified gene: KIAA1109 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.36 | KIAA1109 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.36 | KIAA1109 | Ivone Leong Gene: kiaa1109 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.32 | KIAA1109 | Ivone Leong edited their review of gene: KIAA1109: Added comment: 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.; Changed publications: 29290337, 30906834 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.31 | KIAA1109 | Ivone Leong reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.30 | KIAA1109 |
Ivone Leong 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 |
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