Genomics England
GMS Panels
Panels
Genes and Entities

MASP1

mannan binding lectin serine peptidase 1
OMIM: 600521
PanelMode of inheritanceDetails
6 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3MC SYNDROME 1, 3MC1
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3MC SYNDROME 1 257920
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3MC SYNDROME 1
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
3MC SYNDROME 1, 3MC1
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#257920: 3MC syndrome 1
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3MC syndrome 1 - 257920