Vitreoretinopathy

Gene: COL9A3

I don't know

In family 2 with missense Gly130Ser, there is 228 hets 0 homs in gnomAD v2.

This leaves 1 family with the splice variant which is absent in gnomAD, cDNA studies to prove a splice defect and segregation in 11 affecteds (genotyped) across 2 generations

Created: 2 Mar 2022, 6:45 a.m. | Last Modified: 3 Mar 2022, 10:29 p.m.

Panel Version: 1.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Peripheral vitreoretinal degeneration and retinal detachment, AD

Publications

• 33633367

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

Green List (high evidence)

New genotype-phenotype correlation reported in PMID: 33633367 - Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment:

c.1107+1G>C and Gly130Ser

cDNA studies of the splice variant demonstrated an in-frame deletion in the COL2 domain, and the missense variant occurred in the COL3 domain.

In Family 1, 14 affected individuals of Filipino/Australian ethnicity presented with vitreoretinal degeneration in a pattern suggestive of autosomal dominant inheritance (Fig. 1A). Affected individuals had extensive bilateral lattice vitreoretinal degeneration, with an abnormal vitreoretinal interface particularly at the vitreous base, where the retina was thinned and prone to tears. In Family 2 from New Zealand, three affected members of European background presented with vitreoretinal degeneration and retinal detachment, also in a pattern suggestive of autosomal dominant inheritance (Fig. 1B). In affected individuals in both families with extensive vitreoretinal degeneration, laser intervention or cryotherapy was recommended to prevent further vitreoretinal detachment or tearing.
Sources: Literature

Created: 7 Jun 2021, 6:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Peripheral vitreoretinal degeneration and retinal detachment, AD

Publications

• 33633367