UNC80

unc-80 homolog, NALCN channel complex subunit
OMIM: 612636, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red UNC80 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801
Green UNC80 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777
Green UNC80 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777
Green UNC80 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 Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777
Green UNC80 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 Genetic Health Queensland Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777
Red UNC80 in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.235 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777
Amber UNC80 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.76 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Green UNC80 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 2, 616801 (3), Autosomal recessive
Amber UNC80 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Genetic Health Queensland Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777
Green UNC80 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive