GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: HNRNPK

HNRNPK (heterogeneous nuclear ribonucleoprotein K)
EnsemblGeneIds (GRCh38): ENSG00000165119
EnsemblGeneIds (GRCh37): ENSG00000165119
OMIM: 600712, Gene2Phenotype
HNRNPK is in 9 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation. Two cases - skeletal anomalies, including hip dysplasia, scoliosis, and extra lumbar vertebrae; Two cases reported: 1 had multiple vertebral segmentation defects. One patient had planovalgus feet and crowded toes, whereas the other had postaxial polydactyly and overlapping toes. ?SD, only 2 cases ; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Au-Kline syndrome:616580; Orphanet:453499

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
NHS GMS

Phenotypes

Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432

OMIM

600712

Clinvar variants

Variants in HNRNPK

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 2

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

Eleanor Williams (Genomics England Curator)

gene: HNRNPK was added gene: HNRNPK was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNRNPK were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: HNRNPK