Glaucoma congenital
Gene: EFEMP1EnsemblGeneIds (GRCh38): ENSG00000115380
EnsemblGeneIds (GRCh37): ENSG00000115380
OMIM: 601548, Gene2Phenotype
EFEMP1 is in 4 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glaucoma 1, open angle, H, MIM# 611276
Alison Yeung (Victorian Clinical Genetics Services)
Three unrelated Filipino families, total of 34 individuals. Variants segregate with disease.
Disease onset average age of 16 years.
Functional studies: transfected cells exhibit protein aggregation
Sources: LiteratureCreated: 5 May 2022, 1:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Juvenile-onset open angle glaucoma, MONDO:0020367, EFEMP1-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Glaucoma 1, open angle, H, MIM# 611276
- OMIM
- 601548
- Clinvar variants
- Variants in EFEMP1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EFEMP1 were changed from Juvenile-onset open angle glaucoma, MONDO:0020367, EFEMP1-related to Glaucoma 1, open angle, H, MIM# 611276
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: efemp1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: efemp1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: efemp1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alison Yeung (Victorian Clinical Genetics Services)gene: EFEMP1 was added gene: EFEMP1 was added to Glaucoma congenital. Sources: Literature Mode of inheritance for gene: EFEMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EFEMP1 were set to 34923728 Phenotypes for gene: EFEMP1 were set to Juvenile-onset open angle glaucoma, MONDO:0020367, EFEMP1-related Penetrance for gene: EFEMP1 were set to unknown Review for gene: EFEMP1 was set to GREEN