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| Growth failure in early childhood v3.69 | INTS1 | Arina Puzriakova Phenotypes for gene: INTS1 were changed from Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817 to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.100 | INTS1 | Ivone Leong Tag for-review was removed from gene: INTS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.100 | INTS1 | Ivone Leong commented on gene: INTS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.99 | 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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| Growth failure in early childhood v1.19 | INTS1 | Ivone Leong edited their review of gene: INTS1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.19 | INTS1 | Ivone Leong Classified gene: INTS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.19 | INTS1 | Ivone Leong Gene: ints1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.18 | INTS1 |
Ivone Leong gene: INTS1 was added gene: INTS1 was added to Growth failure in early childhood. Sources: Literature for-review tags were added to gene: INTS1. 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, OMIM:618571, MONDO:0032817 Review for gene: INTS1 was set to AMBER Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are at least 6 unrelated families where affected individuals have growth retardarion. There is enough evidence to support a gene-disease association. This gene should be made Green at the next review. Sources: Literature |
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