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  3. OLFM2
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Structural eye disease

Gene: OLFM2

Amber List (moderate evidence)
OLFM2 (olfactomedin 2)
EnsemblGeneIds (GRCh38): ENSG00000105088
EnsemblGeneIds (GRCh37): ENSG00000105088
OMIM: 617492, Gene2Phenotype
OLFM2 is in 1 panel

3 reviews

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

I don't know

Holt reports two cases, one with a de novo CNV involving an additional gene and one with a 5' UTR variant which is inherited from an unaffected parent.
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
DB Holt: one family with dn deletion, one with UTR variant - we are now aware of an additional family with a deletion
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

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

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

Panel version: 0.91

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Bilateral microphthalmia, short stature and facial dysmorphism

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Holt: one family with dn deletion, one with UTR variant - we are now aware of an additional family with a deletion
Created: 23 Apr 2019, 12:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

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

Created: 23 Apr 2019, 12:57 p.m.

Panel version: 0.57

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Bilateral microphthalmia, short stature and facial dysmorphism
  • No OMIM
OMIM
617492
Clinvar variants
Variants in OLFM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Oct 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene OLFM2 were changed from 27844144 to 27844144; 17122126

23 Apr 2019, Gel status: 2

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source London North GLH was added to OLFM2. Added phenotypes Bilateral microphthalmia, short stature and facial dysmorphism; No OMIM for gene: OLFM2

17 Apr 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: OLFM2 was added gene: OLFM2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: OLFM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OLFM2 were set to 27844144