Ocular and Oculocutaneous Albinism
Gene: PMELEnsemblGeneIds (GRCh38): ENSG00000185664
EnsemblGeneIds (GRCh37): ENSG00000185664
OMIM: 155550, Gene2Phenotype
PMEL is in 3 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
A consanguineous family with oculocutaneous albinism and Hirschsprung disease was found to have a biallelic LoF variant in PMEL, which although NMD-predicted was found not to result in NMD by RT-PCR.
Some evidence that polymorphisms in this gene influence pigmentation in cattle.
Sources: LiteratureCreated: 2 Feb 2023, 4:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oculocutaneous albinism, PMEL-related MONDO:0018910
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Cculocutaneous albinism, PMEL-related MONDO:0018910
- OMIM
- 155550
- Clinvar variants
- Variants in PMEL
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pmel has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pmel has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: PMEL was added gene: PMEL was added to Ocular and Oculocutaneous Albinism. Sources: Literature Mode of inheritance for gene: PMEL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMEL were set to 36166100; 36207673 Phenotypes for gene: PMEL were set to Cculocutaneous albinism, PMEL-related MONDO:0018910 Review for gene: PMEL was set to RED gene: PMEL was marked as current diagnostic