Genomics England
GMS Panels
Panels
Genes and Entities

TASP1

taspase 1
OMIM: 608270
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TASP1-related neurodevelopmental disorder
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Suleiman-El-Hattab syndrome, OMIM:618950