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| Bilateral congenital or childhood onset cataracts v2.98 | INTS1 | Ivone Leong Tag for-review was removed from gene: INTS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.98 | INTS1 | Ivone Leong commented on gene: INTS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.97 | INTS1 |
Ivone Leong Source Expert Review Green was added to INTS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Bilateral congenital or childhood onset cataracts v2.29 | INTS1 | Ivone Leong Classified gene: INTS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.29 | INTS1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be made Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.29 | INTS1 | Ivone Leong Gene: ints1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.28 | INTS1 | Ivone Leong Tag for-review tag was added to gene: INTS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.28 | INTS1 | Ivone Leong Phenotypes for gene: INTS1 were changed from Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571 to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.6 | INTS1 |
Zornitza Stark gene: INTS1 was added gene: INTS1 was added to Cataracts. Sources: Expert list Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS1 were set to 28542170; 30622326; 31428919 Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571 Review for gene: INTS1 was set to GREEN gene: INTS1 was marked as current diagnostic Added comment: At least 6 unrelated families reported; cataract is a consistent feature, onset in infancy/early childhood. Sources: Expert list |
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