1. Genes and Genomic Entities
  2. LMAN1

LMAN1

lectin, mannose binding 1
OMIM: 601567, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green LMAN1 in Combined factor V and VIII deficiency


Version 1.10
Latest signed off version: v1.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North EastGLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Combined factor V and VIII deficiency, OMIM:227300
Green LMAN1 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Combined factor V and VIII deficiency
Green LMAN1 in Bleeding and platelet disorders


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 227300 Combined factor V and VIII deficiency
Green LMAN1 in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined factor V and VIII deficiency, 227300