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| Vitreoretinopathy v1.3 | COL9A3 | Zornitza Stark Classified gene: COL9A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitreoretinopathy v1.3 | COL9A3 | Zornitza Stark Gene: col9a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitreoretinopathy v1.2 | COL9A3 |
Ain Roesley changed review comment from: 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 14 affecteds across 2 generations; to: 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 |
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| Vitreoretinopathy v1.2 | COL9A3 |
Ain Roesley changed review comment from: In family 2 with missense Gly130Ser, ther 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 14 affecteds across 2 generations; to: 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 14 affecteds across 2 generations |
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| Vitreoretinopathy v1.2 | COL9A3 | Ain Roesley reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33633367; Phenotypes: Peripheral vitreoretinal degeneration and retinal detachment, AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitreoretinopathy v1.2 | COL9A3 | Sue White Classified gene: COL9A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitreoretinopathy v1.2 | COL9A3 | Sue White Gene: col9a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitreoretinopathy v1.1 | COL9A3 | Sue White Marked gene: COL9A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitreoretinopathy v1.1 | COL9A3 | Sue White Gene: col9a3 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitreoretinopathy v1.1 | COL9A3 |
Kristin Rigbye gene: COL9A3 was added gene: COL9A3 was added to Vitreoretinopathy. Sources: Literature Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL9A3 were set to 33633367 Phenotypes for gene: COL9A3 were set to Peripheral vitreoretinal degeneration and retinal detachment, AD Review for gene: COL9A3 was set to GREEN Added comment: 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 |
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