Genomics England
GMS Panels
Panels
Genes and Entities

ATXN7L3

ataxin 7 like 3
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ATXN7L3-related developmental delay, hypotonia and facial dysmorphism, Harel-Tora neurodevelopmental syndrome, OMIM:621377
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Harel-Tora neurodevelopmental syndrome, OMIM:621377