HNRNPK

heterogeneous nuclear ribonucleoprotein K
OMIM: 600712, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green HNRNPK in Periventricular Grey Matter Heterotopia Level 2: Neurology and neurodevelopmental disorders Version 1.2 Component of the following Super Panels: Malformations of cortical development_Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Au-Kline syndrome MIM#616580
Green HNRNPK in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Au-Kline syndrome MIM#616580
Green HNRNPK in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Au-Kline syndrome, MIM#616580
Green HNRNPK in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Au-Kline syndrome, MIM# 616580
Green HNRNPK in Kabuki syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 0.15	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green
Green HNRNPK in Mendeliome Version 1.2302	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Au-Kline syndrome MIM#616580
Green HNRNPK in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.281 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green
Amber HNRNPK in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Au-Kline syndrome MIM#616580
Green HNRNPK in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome (Au-Kline syndrome) MONDO:0018681
Amber HNRNPK in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Expert Review Amber NHS GMS Victorian Clinical Genetics Services Phenotypes OMIM:616580 Orphanet:453499 Au-Kline syndrome:616580 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
Green HNRNPK in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Au-Kline syndrome MIM#616580
Green HNRNPK in Fetal anomalies Version 1.313	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Other Phenotypes Au-Kline syndrome, MIM#616580
Red HNRNPK in Speech apraxia Level 2: Neurology and neurodevelopmental disorders Version 1.27	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Expert list Phenotypes Au-Kline syndrome, MIM# 616580