NEDD4L

neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
OMIM: 606384, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green NEDD4L in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.189 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Periventricular nodular heterotopia 7, MIM# 617201 polymicrogyria syndactyly
Green NEDD4L 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	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Australian Genomics Health Alliance Brain Malformation Flagship Victorian Clinical Genetics Services Phenotypes Periventricular nodular heterotopia 7, MIM# 617201
Green NEDD4L in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Periventricular nodular heterotopia 7, MIM# 617201
Green NEDD4L in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Periventricular nodular heterotopia 7, MIM#617201
Green NEDD4L in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Periventricular nodular heterotopia 7, MIM#617201
Red NEDD4L in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Epilepsy, photosensitive generalised
Green NEDD4L in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Literature Victorian Clinical Genetics Services Expert Review Green Phenotypes Periventricular nodular heterotopia 7 (includes clefting), 617201 Cleft palate Cleft palate, toe syndactyly, periventricular nodular heterotopia
Green NEDD4L in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Genetic Health Queensland Phenotypes Periventricular nodular heterotopia 7, MONDO:0014966 Periventricular nodular heterotopia 7, OMIM:617201
Green NEDD4L in Familial Generalised Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.14	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources GREP Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Periventricular nodular heterotopia 7, 617201
Red NEDD4L in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy, photosensitive generalised