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  3. FREM1
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Glaucoma (developmental)

Gene: FREM1

Red List (low 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: Imported from Structural eye disease 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: Imported from Structural eye disease panel version 0.38

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

FREM1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory