MLPH

melanophilin
OMIM: 606526, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green MLPH in Vici Syndrome and other autophagy disorders

Level 3: Autophagy disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Griscelli syndrome 3
Amber MLPH in Pigmentary skin disorders


Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Amber MLPH in Albinism or congenital nystagmus


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Griscelli syndrome, type 3 609227 AR