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  2. Structural eye disease
  3. MFRP
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Structural eye disease

Gene: MFRP

Green List (high evidence)
MFRP (membrane frizzled-related protein)
EnsemblGeneIds (GRCh38): ENSG00000235718
EnsemblGeneIds (GRCh37): ENSG00000235718
OMIM: 606227, Gene2Phenotype
MFRP is in 7 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

DB Patel et al. 2018 identified homozygous variants in at least four families
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, isolated 5, 611040; Isolated Microphthalmia

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Patel et al. 2018 identified homozygous variants in at least four families
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, isolated 5, 611040; Isolated Microphthalmia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Isolated Microphthalmia
  • Microphthalmia, isolated 5, 611040
OMIM
606227
Clinvar variants
Variants in MFRP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MFRP. Added phenotypes Isolated Microphthalmia; Microphthalmia, isolated 5, 611040 for gene: MFRP Publications for gene MFRP were changed from to 29450879

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MFRP was added gene: MFRP was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFRP were set to Microphthalmia, isolated 5, 611040; Isolated Microphthalmia