Albinism or congenital nystagmus

Gene: MLPH

Amber List (moderate evidence)

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

1 review

Jonathan Callaway (Wessex Regional Genetics Laboratory)

I don't know

Limited evidence for an association with hypopigmentation. Comments from OMIM: Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair), the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. OMIM describes 2 patients with hypopigmentation without any immunologicic or neurologic manifestations; they were reported by Sanal et al. 2002 (PMID 12148598). Menasche et al. 2003 (PMID 12897212) identified a homozygous mutation in the MLPH gene in one of these patients and a homozygous deletion of the F-exon of the MYO5A gene. Comments from HGMDpro: Only 7 variants in total; 4 of these have Griscelli syndrome as the reported phenotype (2 missense variants, one nonsense and one frameshift variant). The misense variant reported by Menasche et al 2003 is present.
Created: 20 Mar 2019, 4:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Griscelli syndrome, type 3 609227 AR

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Griscelli syndrome, type 3 609227 AR
OMIM
606526
Clinvar variants
Variants in MLPH
Penetrance
None
Panels with this gene

History Filter Activity

20 Mar 2019, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to MLPH. Added phenotypes Griscelli syndrome, type 3 609227 AR for gene: MLPH Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

20 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: MLPH was added gene: MLPH was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLPH were set to Griscelli syndrome, type 3 609227 AR