Genomics England
GMS Panels
Panels
Genes and Entities

MID1

midline 1
OMIM: 300552
PanelMode of inheritanceDetails
4 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
OPITZ GBBB SYNDROME, TYPE I, GBBB1
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
OPITZ G/BBB SYNDROME, X-LINKED 300000
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
OPITZ G/BBB SYNDROME, X-LINKED
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Opitz GBBB syndrome, type I, 300000, OPITZ G/BBB SYNDROME, X-LINKED