DMXL2

Dmx like 2
OMIM: 612186, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green DMXL2 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 81, MIM# 618663
Green DMXL2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 81, MIM# 618663
Green DMXL2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Deafness, autosomal dominant 71, MIM#617605 Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness
Green DMXL2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 81, MIM# 618663
Red DMXL2 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Polyendocrine-polyneuropathy syndrome , MIM# 616113
Green DMXL2 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.63	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Epileptic encephalopathy, early infantile, 81, MIM#618663, with deafness Autosomal dominant hearing loss
Green DMXL2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Developmental and epileptic encephalopathy 81, MIM#618663
Red DMXL2 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Developmental and epileptic encephalopathy 81, MIM#618663