| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.4642 | OPN1MW |
Rylee Peters changed review comment from: Green rating for Colorblindness, deutan, MIM#303800 OPN1MW is Definitively associated with OPN1MW-related cone dysfunction - classification was approved by the ClinGen Retina Gene Curation Expert Panel on September 4th, 2025. OPN1LW is definitively associated with OPN1LW-related cone dysfunction - classification was approved by the ClinGen Retina Gene Curation Expert Panel on September 4th, 2025. "Per criteria outlined by the ClinGen Lumping & Splitting Working Group, diverse cases were compared and found to share an X-linked mode of inheritance and a degree of overlap in their phenotypes, but to differ in the mechanism of pathogenicity underlying deutan color blindness (monogenic OPN1MW loss-of-function) versus blue cone monochromacy (digenic OPN1MW and OPN1LW loss-of-function)."; to: Green rating for Colorblindness, deutan, MIM#303800 OPN1MW is Definitively associated with OPN1MW-related cone dysfunction - classification was approved by the ClinGen Retina Gene Curation Expert Panel on September 4th, 2025. "Per criteria outlined by the ClinGen Lumping & Splitting Working Group, diverse cases were compared and found to share an X-linked mode of inheritance and a degree of overlap in their phenotypes, but to differ in the mechanism of pathogenicity underlying deutan color blindness (monogenic OPN1MW loss-of-function) versus blue cone monochromacy (digenic OPN1MW and OPN1LW loss-of-function)." |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4642 | OPN1LW | Rylee Peters Classified gene: OPN1LW as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4642 | OPN1LW | Rylee Peters Gene: opn1lw has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4641 | OPN1LW | Rylee Peters reviewed gene: OPN1LW: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorblindness, protan, MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12236 | OPN1LW | Zornitza Stark Marked gene: OPN1LW as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12236 | OPN1LW | Zornitza Stark Gene: opn1lw has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12236 | OPN1LW | Zornitza Stark Phenotypes for gene: OPN1LW were changed from to Blue cone monochromacy - MIM#303700; Colourblindness, protan - MIM#303900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12233 | OPN1LW | Zornitza Stark Publications for gene: OPN1LW were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12232 | OPN1LW | Zornitza Stark Mode of inheritance for gene: OPN1LW was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12231 | OPN1LW | Zornitza Stark Classified gene: OPN1LW as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12231 | OPN1LW | Zornitza Stark Gene: opn1lw has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12230 | OPN1LW | Zornitza Stark Tag SV/CNV tag was added to gene: OPN1LW. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12224 | OPN1LW | Krithika Murali reviewed gene: OPN1LW: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168334, 32860923; Phenotypes: Blue cone monochromacy - MIM#303700, Colorblindness, protan - MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | OPN1LW |
Zornitza Stark gene: OPN1LW was added gene: OPN1LW was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OPN1LW was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||