Genomics England
GMS Panels
Panels
Genes and Entities

GDI1

GDP dissociation inhibitor 1
OMIM: 300104
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION X-LINKED TYPE 48 300849, MENTAL RETARDATION X-LINKED TYPE 41 300849
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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked 41, 300849, MENTAL RETARDATION X-LINKED TYPE 41 (MRX41)