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 1.3

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


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

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


Level 2: Ophthalmology
Version 4.2
Latest signed off version: v4.0 (30 Apr 2025)

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