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  3. UNC80
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Dystonia - complex

Gene: UNC80

Red List (low evidence)
UNC80 (unc-80 homolog, NALCN channel complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000144406
EnsemblGeneIds (GRCh37): ENSG00000144406
OMIM: 612636, Gene2Phenotype
UNC80 is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; MONDO:0014777

Created: 4 Nov 2020, 9:35 p.m.
Last Modified: 4 Nov 2020, 9:35 p.m.
Panel version: 0.153

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Two consanguineous Bedouin Israeli families homozygous for the same variantc.151C>T, p.(R51*) with dystonia as a feature of the condition. No other reported evidence for dystonia in the context of this condition.
Sources: Expert list
Created: 6 Apr 2020, 9:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypotonia; severe intellectual disability; dyskinesia; dysmorphism

Publications

Created: 6 Apr 2020, 9:16 a.m.

Panel version: 0.54

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801
  • MONDO:0014777
OMIM
612636
Clinvar variants
Variants in UNC80
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Nov 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UNC80 were changed from hypotonia; severe intellectual disability; dyskinesia; dysmorphism to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; MONDO:0014777

6 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: unc80 has been classified as Red List (Low Evidence).

6 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: UNC80 was added gene: UNC80 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC80 were set to 26545877 Phenotypes for gene: UNC80 were set to hypotonia; severe intellectual disability; dyskinesia; dysmorphism Review for gene: UNC80 was set to RED