Genomics England
GMS Panels
Panels
Genes and Entities

UNC80

unc-80 homolog, NALCN channel complex subunit
OMIM: 612636
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801