HNRNPK

heterogeneous nuclear ribonucleoprotein K
OMIM: 600712, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber HNRNPK in Limb disorders Level 2: Musculoskeletal Version 7.17 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Au-Kline syndrome 616580 Polydactyly
Red HNRNPK in Thoracic aortic aneurysm or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH South West GLH
Red HNRNPK in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.129	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Other
Amber HNRNPK in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Other Phenotypes Orphanet:453499 OMIM:616580 Au-Kline syndrome:616580 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation Orphanet:453499
Green HNRNPK in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Au-Kline syndrome, 616580
Green HNRNPK in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Au-Kline syndrome, OMIM:616580
Green HNRNPK in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Au-Kline Syndrome
Green HNRNPK in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Au-Kline syndrome, OMIM:616580
Green HNRNPK in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Other Phenotypes Au-Kline syndrome, 616580 intellectual disability