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Hydrocephalus

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)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Created: 29 Jul 2019, 2:49 p.m.
Last Modified: 29 Jul 2019, 2:49 p.m.
Panel version: 1.34

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, 4:09 p.m.
Panel Version: 2.129
Associated with phenotype in OMIM and as a probable 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: 6 Feb 2018, 9:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alkuraya-Kucinskas syndrome 617822

Publications

Created: 6 Feb 2018, 9:11 a.m.
Last Modified: 30 Jun 2022, 4:09 p.m.
Panel version: 2.129

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Alkuraya-Kucinskas syndrome, OMIM: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.

25 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KIAA1109 were changed from Alkuraya-Kucinskas syndrome 617822 to Alkuraya-Kucinskas syndrome, OMIM:617822

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to KIAA1109.

6 Feb 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Feb 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

KIAA1109 was added to Hydrocephalus panel. Sources: Literature

6 Feb 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

KIAA1109 was created by Sarah Leigh