Structural eye disease
Gene: KIAA1109EnsemblGeneIds (GRCh38): ENSG00000138688
EnsemblGeneIds (GRCh37): ENSG00000138688
OMIM: 611565, Gene2Phenotype
KIAA1109 is in 8 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for KIAA1109 is BLTP1.Created: 30 Jun 2022, 3:32 p.m. | Last Modified: 30 Jun 2022, 4:10 p.m.
Panel Version: 1.132
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB Gueneau: three families with microphthalmiaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkuraya-Kucinskas syndrome,
Publications
- 29290337, 617822
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Gueneau: three families with microphthalmiaCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkuraya-Kucinskas syndrome,
Publications
- 29290337
- 617822
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Alkuraya-Kucinskas syndrome
- Tags
- OMIM
- 611565
- Clinvar variants
- Variants in KIAA1109
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag new-gene-name tag was added to gene: KIAA1109.
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: KIAA1109 were set to 617822; 29290337
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 Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1109 were set to 617822; 29290337 Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome