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| Cone-rod Dystrophy v0.5 | PITPNM3 | Bryony Thompson Classified gene: PITPNM3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.5 | PITPNM3 | Bryony Thompson Added comment: Comment on list classification: No convincing evidence and no recent reports | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.5 | PITPNM3 | Bryony Thompson Gene: pitpnm3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.4 | PITPNM3 | Bryony Thompson edited their review of gene: PITPNM3: Changed publications: 17377520, 22405330, 20590364 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.4 | PITPNM3 | Bryony Thompson changed review comment from: Only a single missense (p.Gln626His) identified in 2 Swedish families. Macular atrophy is feature of the cone-rod dystrophy in these families. The allele frequency of this variant in the European (non-finnish) population is 0.3%, which is common for a dominant rare disease. No functional assays have been conducted.; to: Single missense (p.Gln626His) identified in 2 Swedish families and two British macular dystrophy cases. The allele frequency of this variant in the European (non-finnish) population is 0.3%, which is common for a dominant rare disease. Three other variants reported in isolated cases. No functional assays have been conducted. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.0 | PITPNM3 |
Bryony Thompson gene: PITPNM3 was added gene: PITPNM3 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PITPNM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PITPNM3 were set to 30679166; 17377520; 22405330 Phenotypes for gene: PITPNM3 were set to Cone-rod dystrophy 5, 600977 |
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