Pigmentary skin disorders

Gene: MLPH

Amber List (moderate evidence)

MLPH (melanophilin)
EnsemblGeneIds (GRCh38): ENSG00000115648
EnsemblGeneIds (GRCh37): ENSG00000115648
OMIM: 606526, Gene2Phenotype
MLPH is in 3 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

I don't know

South Thames review: Green. But only single instance in literature. Maintain as Amber?
Created: 12 Dec 2019, 12:23 p.m. | Last Modified: 12 Dec 2019, 12:23 p.m.
Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Griscelli syndrome, type 3, 609227

Catherine Snow (Genomics England)

I don't know

This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:MLPH; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.13


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
Clinvar variants
Variants in MLPH
Panels with this gene

History Filter Activity

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: MLPH was added gene: MLPH was added to Pigmentary skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal