Cerebral Palsy
Gene: KIAA1109
KIAA1109 (KIAA1109)
EnsemblGeneIds (GRCh38): ENSG00000138688
EnsemblGeneIds (GRCh37): ENSG00000138688
OMIM: 611565, Gene2Phenotype
KIAA1109 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000138688
EnsemblGeneIds (GRCh37): ENSG00000138688
OMIM: 611565, Gene2Phenotype
KIAA1109 is in 10 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with compound heterozygous variants (1 nonsense, 1 missense) reported in a monocentric cohort study (PMID: 39213953). Clinically West syndrome with evolution to Lennox-Gastaut, severe DD, ID, vision problems, microcephaly, feeding difficulties, spasticity, corpus callosum hypoplasia, cerebral atrophy, heterotopia.
Sources: LiteratureCreated: 2 Sep 2024, 6:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkuraya-Kucinskas syndrome, MIM#617822
Publications
- PMID: 39213953
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Alkuraya-Kucinskas syndrome, MIM#617822
- OMIM
- 611565
- Clinvar variants
- Variants in KIAA1109
- Penetrance
- None
- Publications
-
- PMID: 39213953
- Panels with this gene
History Filter Activity
22 Oct 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kiaa1109 has been classified as Red List (Low Evidence).
22 Oct 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kiaa1109 has been classified as Red List (Low Evidence).
2 Sep 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: KIAA1109 was added gene: KIAA1109 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1109 were set to PMID: 39213953 Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, MIM#617822 Review for gene: KIAA1109 was set to RED