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  2. Structural eye disease
  3. FREM1
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Structural eye disease

Gene: FREM1

Green List (high evidence)
FREM1 (FRAS1 related extracellular matrix 1)
EnsemblGeneIds (GRCh38): ENSG00000164946
EnsemblGeneIds (GRCh37): ENSG00000164946
OMIM: 608944, Gene2Phenotype
FREM1 is in 11 panels

2 reviews

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

Green List (high evidence)

DB Slavotinek et al. 2011: 5 families with MOTA, many of which had cryptophthalmos/AMC/eyelid colobomas
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MANITOBA OCULOTRICHOANAL SYNDROME; 248450

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 Slavotinek et al. 2011: 5 families with MOTA, many of which had cryptophthalmos/AMC/eyelid colobomas
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MANITOBA OCULOTRICHOANAL SYNDROME 248450

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 FREM1. Added phenotypes MANITOBA OCULOTRICHOANAL SYNDROME 248450 for gene: FREM1 Publications for gene FREM1 were changed from to 21507892

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: FREM1 was added gene: FREM1 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal