Pigmentary skin disorders

Gene: MLPH

Green List (high evidence)

Very well established gene for Griscelli. Clinically important differential in cases of pigment dilution in neonates as this genotype requires less monitoring for complications and better outlook.

Created: 22 Mar 2026, 1:21 p.m. | Last Modified: 22 Mar 2026, 1:21 p.m.

Panel Version: 4.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Griscelli syndrome

Publications

• 12897212
• 21883982
• 22711375
• 26337734

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

Phenotypes
Griscelli syndrome, type 3, 609227

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