TLK2

tousled like kinase 2
OMIM: 608439, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TLK2 in Blepharophimosis Level 2: Ophthalmological disorders Version 1.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 57, MIM# 618050
Amber TLK2 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 57, MIM#618050
Green TLK2 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability, MIM 618050 Neurodevelopmental disease
Amber TLK2 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, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 57 MIM#618050
Green TLK2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual disability, MIM 618050 Neurodevelopmental disease
Green TLK2 in Fetal anomalies Version 1.313	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 57 - MIM#618050