Retinitis pigmentosa_Autosomal Recessive/X-linked

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
OMIM
606227
Clinvar variants
Variants in MFRP
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MFRP was added gene: MFRP was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFRP were set to Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen