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BabyScreen+ newborn screening

Gene: MLPH

Red List (low evidence)

MLPH (melanophilin)
EnsemblGeneIds (GRCh38): ENSG00000115648
EnsemblGeneIds (GRCh37): ENSG00000115648
OMIM: 606526, Gene2Phenotype
MLPH is in 4 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Griscelli syndrome type 3
OMIM
606526
Clinvar variants
Variants in MLPH
Penetrance
None
Panels with this gene

History Filter Activity

28 Jul 2024, Gel status: 1

Set Phenotypes

Tommy Li (Murdoch Children's Research Institute)

Added phenotypes Griscelli syndrome type 3 for gene: MLPH

18 Sep 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MLPH was added gene: MLPH was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLPH were set to Griscelli syndrome type 3