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Mackenzie's Mission_Reproductive Carrier Screening

Gene: OPN1LW

Red List (low evidence)

OPN1LW (opsin 1, long wave sensitive)
EnsemblGeneIds (GRCh38): ENSG00000102076
EnsemblGeneIds (GRCh37): ENSG00000102076
OMIM: 300822, Gene2Phenotype
OPN1LW is in 4 panels

1 review

Sarah Righetti (University of New South Wales)

Red List (low evidence)

Decision to exclude from MM gene list on 01/04/21

Seen frequently in lab (workload implications) but a rare condition.

OPN1LW produces duplications and CNVs across every run- causing technical problems that we are not aware of - risk of missing variants.
Created: 9 Apr 2021, 6:32 a.m. | Last Modified: 9 Apr 2021, 6:32 a.m.
Panel Version: 0.54

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Blue cone monochromacy, MIM#303700; Colorblindness, protan, MIM#303900

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Blue cone monochromacy, MIM#303700
  • Colorblindness, protan, MIM#303900
OMIM
300822
Clinvar variants
Variants in OPN1LW
Penetrance
None
Panels with this gene

History Filter Activity

15 Apr 2021, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: OPN1LW were changed from Blue cone monochromacy, 303700 (3) to Blue cone monochromacy, MIM#303700; Colorblindness, protan, MIM#303900

15 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: opn1lw has been classified as Red List (Low Evidence).

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OPN1LW was added gene: OPN1LW was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OPN1LW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OPN1LW were set to Blue cone monochromacy, 303700 (3)