Structural eye disease
Gene: OLFM2
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 deletionCreated: 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
Phenotypes
Bilateral microphthalmia, short stature and facial dysmorphism
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 deletionCreated: 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
Publications for gene OLFM2 were changed from 27844144 to 27844144; 17122126
Source London North GLH was added to OLFM2. Added phenotypes Bilateral microphthalmia, short stature and facial dysmorphism; No OMIM for gene: OLFM2
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