MLPH

melanophilin
OMIM: 606526, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green MLPH in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Griscelli syndrome, type 3, MIM# 609227

Red MLPH in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Griscelli syndrome type 3

Red MLPH in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 1.21

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Griscelli syndrome, type 3, MIM# 609227

Red MLPH in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Griscelli syndrome type 3