Fetal anomalies
Gene: KIAA1109

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

2 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, 4:09 p.m.

Panel Version: 1.871

Created: 30 Jun 2022, 3:32 p.m.
Last Modified: 30 Jun 2022, 4:09 p.m.
Panel version: 1.871

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of pathogenicity: The Mode of pathogenicity recorded in Gene2Phenotype for the disorder 'Brain atrophy, Dandy Walker and Contractures' is: All missense/in frame. However, as summarised in PMID:29290337 (Gueneau et al., 2018),
case subjects compatible with life carry missense variants but many of the more severely affected cases harbor homozygous or compound het truncating alleles. Therefore changed the Mode of pathogenicity back to default so LOF variants are captured.
Created: 1 Jul 2019, 2:33 p.m. | Last Modified: 1 Jul 2019, 2:33 p.m.

Panel Version: 0.294

Comment on list classification: Updated rating from Amber to Green after agreement from Anna de Burca (Genomics England clinical team). KIAA1109 is Green on the 'Hydrocephalus' and 'Arthrogryposis' panels. Sufficient cases in OMIM to support association with Alkuraya-Kucinskas syndrome (MIM:617822) which includes arthrogryposis and brain abnormalities: severe cases are incompatible with life. Multiple ultrasounds abnormalities reported in PMIDs 30485398 and 29290337.
Created: 1 Jul 2019, 2:24 p.m. | Last Modified: 1 Jul 2019, 2:24 p.m.

Panel Version: 0.293

PMID:30485398: Filatova et al. 2019 report a Russian family with fetal anomalies detected upon ultrasound scans of three pregnancies. The first pregnancy resulted in a miscarriage. The second and third pregnancies were terminated because of ultrasound fetal abnormalities. In the third pregnancy, anomalies included bilateral ventriculomegaly, arthrogryposis (radial clubhand, bilateral clubfoot, flexed deformity of hip, knee and ankle joints), bilateral pyelectasis, increased thickness of the nuchal‐fold, hypoplastic and low set ears- Sanger sequencing revealed that the polymalformative fetus had compound heterozygous KIAA1109 variants. One of the dichorionic twins in the 4th pregnancy had similar phenotype and biallelic KIAA1109 variants (the healthy twin had only one variant c.1932‐3A>G).
Created: 1 Jul 2019, 2:03 p.m. | Last Modified: 1 Jul 2019, 2:03 p.m.

Panel Version: 0.290

DDG2P rating in original PAGE list: Probable for Brain atrophy, Dandy Walker and Contractures
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.318

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
PAGE DD-Gene2Phenotype

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.

1 Jul 2019, Gel status: 3