Cerebellar and Pontocerebellar Hypoplasia
Gene: KIAA1109

KIAA1109 (KIAA1109)
EnsemblGeneIds (GRCh38): ENSG00000138688
EnsemblGeneIds (GRCh37): ENSG00000138688
OMIM: 611565, Gene2Phenotype
KIAA1109 is in 10 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe LOF genotypes are incompatible with life

PMID: 29290337 - >5 patients with cerebellar hypoplasia, found in both post- and prenatal MRI. Patients were diagnosed with a brain development disorder with arthogryposis. Both PTCs and missense reported.

PMID: 30906834 - 1 patient with inferior vermin hypoplasia and pontine hypoplasia. Affected sibling has many brain malformations but cerebellar hypoplasia not noted. Both siblings were diagnosed with a congenital neurological malformation disorder.
Created: 29 Apr 2020, 2:08 a.m. | Last Modified: 29 Apr 2020, 2:08 a.m.

Panel Version: 0.113

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alkuraya-Kucinskas syndrome 617822

Publications

PMID: 29290337
30906834

Created: 29 Apr 2020, 2:08 a.m.
Last Modified: 29 Apr 2020, 2:08 a.m.
Panel version: 0.113

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Alkuraya-Kucinskas syndrome, MIM# 617822

OMIM

611565

Clinvar variants

Variants in KIAA1109

Penetrance

None

Publications

Panels with this gene