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DDG2P

Gene: UNC80

Green List (high evidence)

UNC80 (unc-80 homolog, NALCN channel complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000144406
EnsemblGeneIds (GRCh37): ENSG00000144406
OMIM: 612636, Gene2Phenotype
UNC80 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:31 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
OMIM
612636
Clinvar variants
Variants in UNC80
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: UNC80 was added gene: UNC80 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC80 were set to 26708751; 26708753 Phenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability