Genomics England
GMS Panels
Panels
Genes and Entities

MCM3AP

minichromosome maintenance complex component 3 associated protein
OMIM: 603294
PanelMode of inheritanceDetails
2 panels
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
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
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124