Genomics England
GMS Panels
Panels
Genes and Entities

UNC13A

unc-13 homolog A
OMIM: 609894
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
UNC13A-related congenital epileptic encephalopathy and severe neuromuscular disorder, MONDO:0100038, UNC13A-related neurodevelopmental disorder with ataxia and tremor or dyskinetic movements
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 9.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, OMIM:621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455, ?Intellectual development disorder with seizures and dysmorphic facies , OMIM:621457
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, OMIM:621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455, ?Intellectual development disorder with seizures and dysmorphic facies , OMIM:621457