NALCN

sodium leak channel, non-selective
OMIM: 611549, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green NALCN in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266
Amber NALCN in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cerebral palsy Congenital contractures of the limbs and face, hypotonia, and developmental delay (OMIM 616266)
Green NALCN in Mendeliome Version 1.2302	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419
Green NALCN in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.295	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419
Green NALCN in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)
Green NALCN in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, MIM # 615419
Green NALCN in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3)
Green NALCN in Fetal anomalies Version 1.313	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay (MIM#616266) Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)
Green NALCN in Prepair 1000+ Level 2: Screening Version 1.1566	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)
Green NALCN in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3)