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  2. Structural eye disease
  3. FREM2
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Structural eye disease

Gene: FREM2

Green List (high evidence)
FREM2 (FRAS1 related extracellular matrix protein 2)
EnsemblGeneIds (GRCh38): ENSG00000150893
EnsemblGeneIds (GRCh37): ENSG00000150893
OMIM: 608945, Gene2Phenotype
FREM2 is in 13 panels

2 reviews

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

Green List (high evidence)

DB First individuals with Fraser syndrome published by Jajeda et al. 2005, more since
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FRASER SYNDROME 2; 617666

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 First individuals with Fraser syndrome published by Jajeda et al. 2005, more since
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FRASER SYNDROME 2 617666

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

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 FREM2. Added phenotypes FRASER SYNDROME 2 617666 for gene: FREM2 Publications for gene FREM2 were changed from to 15838507

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: FREM2 was added gene: FREM2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FREM2 were set to Eye Disorders