Genomics England
GMS Panels
Panels
Genes and Entities

PUS7

pseudouridylate synthase 7 (putative)
OMIM: 616261
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342, Short stature, Microcephaly, Intellectual disability, Behavioral abnormality
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM:618342