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| Bilateral congenital or childhood onset cataracts v2.98 | PLOD3 | Ivone Leong Tag for-review was removed from gene: PLOD3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.98 | PLOD3 | Ivone Leong commented on gene: PLOD3: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.97 | PLOD3 |
Ivone Leong Source Expert Review Green was added to PLOD3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Bilateral congenital or childhood onset cataracts v2.42 | PLOD3 | Ivone Leong Classified gene: PLOD3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.42 | PLOD3 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence for a gene-disease association. Therefore, this gene should be Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.42 | PLOD3 | Ivone Leong Gene: plod3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.41 | PLOD3 | Ivone Leong Tag for-review tag was added to gene: PLOD3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.6 | PLOD3 |
Zornitza Stark gene: PLOD3 was added gene: PLOD3 was added to Cataracts. Sources: Expert list Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968; 30463024; 31129566 Phenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency, MIM#612394 Review for gene: PLOD3 was set to GREEN gene: PLOD3 was marked as current diagnostic Added comment: Complex phenotype that includes cataracts in 3/5 described unrelated families. Sources: Expert list |
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