Clefting
Gene: HNRNPK
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: LiteratureCreated: 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
Gene: hnrnpk has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: HNRNPK.
Phenotypes for gene: HNRNPK were changed from Au-Kline syndrome, OMIM:616580 to Au-Kline syndrome, OMIM:616580
Phenotypes for gene: HNRNPK were changed from to Au-Kline syndrome, OMIM:616580
gene: HNRNPK was added gene: HNRNPK was added to Clefting. Sources: Literature Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPK were set to 29904177; 37010288 Review for gene: HNRNPK was set to GREEN