Congenital nystagmus
Gene: MLPHEnsemblGeneIds (GRCh38): ENSG00000115648
EnsemblGeneIds (GRCh37): ENSG00000115648
OMIM: 606526, Gene2Phenotype
MLPH is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Overlap with Hermansky-Pudlak syndrome, however hypopigmentation typically affects skin and hair, rather than eyes.Created: 27 Oct 2021, 7:45 a.m. | Last Modified: 27 Oct 2021, 7:45 a.m.
Panel Version: 0.157
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Griscelli syndrome, type 3, MIM# 609227
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- NHS Genomic Medicine Service
- Phenotypes
-
- Griscelli syndrome, type 3, MIM# 609227
- OMIM
- 606526
- Clinvar variants
- Variants in MLPH
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mlph has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MLPH were changed from Griscelli syndrome, type 3 609227 AR to Griscelli syndrome, type 3, MIM# 609227
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mlph has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Added phenotypes Griscelli syndrome, type 3 609227 AR for gene: MLPH
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 Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp 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