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  3. HNRNPK
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Speech apraxia

Gene: HNRNPK

Red List (low evidence)
HNRNPK (heterogeneous nuclear ribonucleoprotein K)
EnsemblGeneIds (GRCh38): ENSG00000165119
EnsemblGeneIds (GRCh37): ENSG00000165119
OMIM: 600712, Gene2Phenotype
HNRNPK is in 13 panels

1 review

Thomas Scerri (Murdoch Children's Research Institute)

Red List (low evidence)

First reported CAS case with a de novo nonsense HNRNPK variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Created: 27 Jun 2024, 8:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Au-Kline syndrome, MIM# 616580

Publications

Created: 27 Jun 2024, 8:28 a.m.

Panel version: 0.27

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Au-Kline syndrome, MIM# 616580
OMIM
600712
Clinvar variants
Variants in HNRNPK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hnrnpk has been classified as Red List (Low Evidence).

28 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hnrnpk has been classified as Red List (Low Evidence).

27 Jun 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Thomas Scerri (Murdoch Children's Research Institute)

gene: HNRNPK was added gene: HNRNPK was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPK were set to 36117209 Phenotypes for gene: HNRNPK were set to Au-Kline syndrome, MIM# 616580 Review for gene: HNRNPK was set to RED