Genomics England
GMS Panels
Panels
Genes and Entities

ATAD1

ATPase family, AAA domain containing 1
OMIM: 614452
PanelMode of inheritanceDetails
2 panels
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
Hyperekplexia 4, OMIM:618011
Green
in Paroxysmal central nervous system disorders
R-numbers: R66
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 4, 618011