Clefting

Gene: HNRNPK

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, NOT imprinted following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 11:59 a.m. | Last Modified: 2 May 2024, 11:59 a.m.

Panel Version: 5.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

Comment on list classification: There is sufficient evidence available to promote this gene to green rating in the next GMS review.

Created: 19 Jun 2023, 2:42 p.m. | Last Modified: 19 Jun 2023, 2:42 p.m.

Panel Version: 4.25

PMID:29904177 reported six new cases and reviewed additional cases from literature with Au-Kline syndrome and monoallelic variants in HNRNPK gene. Of 12 patients reported and reviewed in this publication, five had cleft palate and two others had bifid uvula.

Three out of six patients reported with heterozygous sequence variants in HNRNPK gene in the DECIPHER database had cleft palate as one of the phenotypes (PMID:37010288).

OMIM reported that patients with Au-Kline syndrome (MIM #616580) caused by autosomal dominant variants in HNRNPK gene has cleft palate/ bifid uvula as clinical manifestations.
Sources: Literature

Created: 19 Jun 2023, 2:40 p.m. | Last Modified: 19 Jun 2023, 2:41 p.m.

Panel Version: 4.23

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Au-Kline syndrome, OMIM:616580

Publications

• 29904177
• 37010288