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  3. KIAA1109
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Intellectual disability

Gene: KIAA1109

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added phenotype from Sarah Leigh (Genomics England)
Created: 14 Mar 2018, 11:44 a.m.
Created: 14 Mar 2018, 11:44 a.m.

Panel version: 2.9

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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: 3.1618
OMIM has been updated and the phenotype is now Alkuraya-Kucinskas syndrome 617822
Created: 5 Feb 2018, 5:01 p.m.
Not associated with phenotype in OMIM, but as a probable gene for Brain atrophy, Dandy Walker and Contractures in G2P. In PMID 29290337 at least 12 variants have been identified in 13 cases from 10 unrelated families. The majority of cases were incompatible with life and only three individuals survived (compound heterozygotes for less pathogenic variants), these all had global developmental delay, with varying degrees of intellectual disability. Animal models were supportive for the effect of KIAA1109 variants on impaired brain development (PMID 29290337).
Created: 2 Jan 2018, 2:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alkuraya-Kucinskas syndrome 617822

Publications

Created: 2 Jan 2018, 2:06 p.m.
Last Modified: 30 Jun 2022, 4:10 p.m.
Panel version: 3.1618

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Brain atrophy, Dandy Walker and Contractures
  • Alkuraya-Kucinskas syndrome,617822
Tags
new-gene-name
OMIM
611565
Clinvar variants
Variants in KIAA1109
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jun 2022, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag new-gene-name tag was added to gene: KIAA1109.

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to KIAA1109.

14 Mar 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KIAA1109 were set to Brain atrophy, Dandy Walker and Contractures; Alkuraya-Kucinskas syndrome,617822

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

KIAA1109 was added to Intellectual disability panel. Sources: Expert Review Green,Literature

12 Mar 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

KIAA1109 was created by Ellen McDonagh