| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Bilateral congenital or childhood onset cataracts v2.98 | POLG | Ivone Leong Tag for-review was removed from gene: POLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.98 | POLG | Ivone Leong commented on gene: POLG: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.97 | POLG |
Ivone Leong Source Expert Review Green was added to POLG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Bilateral congenital or childhood onset cataracts v2.46 | POLG | Ivone Leong Tag for-review tag was added to gene: POLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.46 | POLG | Ivone Leong Classified gene: POLG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.46 | POLG | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with the relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence for this gene to be Green; however, the inclusion of this gene to the panel should be reviewed by the GMS specialist group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.46 | POLG | Ivone Leong Gene: polg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.6 | POLG | Zornitza Stark edited their review of gene: POLG: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.6 | POLG |
Zornitza Stark gene: POLG was added gene: POLG was added to Cataracts. Sources: Expert list Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POLG were set to 20301791; 29358615; 22405928 Phenotypes for gene: POLG were set to POLG-related disorders Review for gene: POLG was set to GREEN Added comment: Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants. Cataracts have been described as congenital/preceding other clinical manifestations. Sources: Expert list |
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