Genomics England
GMS Panels
Panels
Genes and Entities

PRSS12

protease, serine 12
OMIM: 606709
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 249500
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal recessive 1, 249500, Mental Retardation, Recessive, MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 (MRT1)