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Mendeliome

Gene: KIAA1109

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures.

More than 10 families reported.
Created: 12 Mar 2022, 1:25 a.m. | Last Modified: 12 Mar 2022, 1:27 a.m.
Panel Version: 0.11295

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alkuraya-Kucinskas syndrome, MIM# 617822

Ain Roesley (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: 22 Nov 2021, 12:24 a.m. | Last Modified: 22 Nov 2021, 12:24 a.m.
Panel Version: 0.9779

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alkuraya-Kucinskas syndrome MIM#617822

Publications

Variants in this GENE are reported as part of current diagnostic practice

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

History Filter Activity

12 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kiaa1109 has been classified as Green List (High Evidence).

12 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIAA1109 were set to

12 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIAA1109 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIAA1109 was added gene: KIAA1109 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KIAA1109 was set to Unknown