Fetal anomalies
Gene: KCNK9

KCNK9 (potassium two pore domain channel subfamily K member 9)
EnsemblGeneIds (GRCh38): ENSG00000169427
EnsemblGeneIds (GRCh37): ENSG00000169427
OMIM: 605874, Gene2Phenotype
KCNK9 is in 3 panels

3 reviews

Natalie Chandler (North Thames GLH)

I don't know

PMID: 36307859 fetal case micrognathia and cleft palate.PMID: 18678320 11 tested and affected from 1 family. All had micrognathia and high arched palate/cleft.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.

Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Birk-Barel syndrome, MIM#612292

Publications

36307859

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.

Panel Version: 5.78

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.

Panel Version: 5.16

Comment on list classification: There are several unrelated cases reported with KCNK9 variants and Birk-Barel syndrome (MIM #612292). Clinical presentations include motor and speech delay, impaired intellectual development, early feeding difficulties, muscular hypotonia, behavioral abnormalities and dysmorphic features.

In addition, this gene has also been associated with phenotypes on the DD panel of Gene2Phenotype resource with 'limited' rating.

As reviewed by Sarah Graham, a foetus has also been reported with KCNK9 variant and with phenotypes consistent with this disorder.

Hence, this gene can be promoted to green rating in the next GMS update.
Created: 26 Jun 2024, 11:23 a.m. | Last Modified: 26 Jun 2024, 11:23 a.m.

Panel Version: 4.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Birk-Barel syndrome, OMIM:612292

Publications

36307859

Created: 26 Jun 2024, 11:11 a.m.
Last Modified: 26 Jun 2024, 11:11 a.m.
Panel version: 5.78

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

The recurrent p.(Gly236Arg) variant is well established as the cause of KCNK9 Imprinting Syndrome / Birk-Barel Syndrome (OMIM #612292) when present on the maternal allele. This variant has been reported as a de novo finding on exome sequencing in a fetus with scan findings consistent with this disorder (micrognathia, cleft palate). PMID: 36307859
Sources: Literature
Created: 14 Jun 2024, 4:07 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Publications

PMID: 36307859

Created: 14 Jun 2024, 4:07 p.m.

Panel version: 4.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Sources

Expert Review Green
NHS GMS

Phenotypes

Birk-Barel syndrome, OMIM:612292

OMIM

605874

Clinvar variants

Variants in KCNK9

Penetrance

None

Publications

36307859

Panels with this gene