Anophthalmia_Microphthalmia_Coloboma

Gene: MFRP

Green List (high evidence)

MFRP (membrane frizzled-related protein)
EnsemblGeneIds (GRCh38): ENSG00000235718
EnsemblGeneIds (GRCh37): ENSG00000235718
OMIM: 606227, Gene2Phenotype
MFRP is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

27 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mfrp has been classified as Green List (High Evidence).

27 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MFRP were changed from to Microphthalmia, isolated 5, MIM# 611040

27 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MFRP were set to

27 Dec 2020, Gel status: 3

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

17 Nov 2019, Gel status: 3

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