Anophthalmia_Microphthalmia_Coloboma
Gene: MFRPEnsemblGeneIds (GRCh38): ENSG00000235718
EnsemblGeneIds (GRCh37): ENSG00000235718
OMIM: 606227, Gene2Phenotype
MFRP is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 10 unrelated families reported with bi-allelic variants in this gene associated with posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen.Created: 27 Dec 2020, 3:26 a.m. | Last Modified: 27 Dec 2020, 3:26 a.m.
Panel Version: 0.106
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, isolated 5, MIM# 611040
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Microphthalmia, isolated 5, MIM# 611040
- OMIM
- 606227
- Clinvar variants
- Variants in MFRP
- 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: mfrp has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MFRP were changed from to Microphthalmia, isolated 5, MIM# 611040
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MFRP were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MFRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MFRP was added gene: MFRP was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MFRP was set to Unknown