Pigmentary skin disorders

Gene: MLPH

Green List (high evidence)

Comment on list classification: As reviewed by Veronica Kinsler, there is sufficient evidence available (over 10 unrelated cases and functional evidence) for the association of this gene with Griscelli syndrome, type 3 (MIM #609227). Hence, this gene can be promoted to green rating on this panel in the next GMS update.

Created: 23 Apr 2026, 6:18 p.m. | Last Modified: 23 Apr 2026, 6:19 p.m.

Panel Version: 4.18

There are over 10 unrelated families reported with five different biallelic variants across 8 different publications. They presented with phenotype encompassing isolated oculocutaneous hypopigmentation (silvery-grey hair, eyebrows, eyelashes), skin hypomelanosis and irregular large melanin clumps in hair shafts. No neurological or immunological involvement was reported in them. There is also functional evidence available in support of the association.

This gene has been associated with Griscelli syndrome, type 3 in OMIM (MIM #609227) and the OMIM record was last accessed 23 April 2026. There is also definitive association for this gene on the Skin panel of Gene2Phenotype database.

Created: 23 Apr 2026, 6:13 p.m. | Last Modified: 23 Apr 2026, 6:13 p.m.

Panel Version: 4.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Griscelli syndrome, type 3, OMIM:609227; Griscelli syndrome type 3, MONDO:0012220

Publications

• 12897212
• 21883982
• 22711375
• 26337734
• 30389201
• 31721180
• 35602484

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