UNC80

unc-80 subunit of NALCN channel complex
OMIM: 612636, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green UNC80 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Expert Review Green 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 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777
Amber UNC80 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Amber Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Green UNC80 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive
Green UNC80 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive