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| Congenital hyperinsulinism v2.32 | NSD1 |
Arina Puzriakova Tag Q4_21_rating was removed from gene: NSD1. Tag Q3_22_NHS_review was removed from gene: NSD1. |
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| Congenital hyperinsulinism v2.32 | NSD1 | Arina Puzriakova reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hyperinsulinism v2.31 | NSD1 |
Arina Puzriakova Source Expert Review Green was added to NSD1. Source NHS GMS was added to NSD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital hyperinsulinism v2.27 | NSD1 | Sarah Leigh Tag Q3_22_NHS_review tag was added to gene: NSD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hyperinsulinism v2.27 | NSD1 | Sarah Leigh Phenotypes for gene: NSD1 were changed from Sotos syndrome (OMIM#117550) to Sotos syndrome, OMIM:117550; Sotos syndrome 1, MONDO:0007299 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hyperinsulinism v2.12 | NSD1 | Eleanor Williams reviewed gene: NSD1: Rating: ; Mode of pathogenicity: ; Publications: :30719864; Phenotypes: Hyperinsulinaemic hypoglycaemia, distinctive facial features, overgrowth in childhood and developmental delay.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hyperinsulinism v2.8 | NSD1 | Ivone Leong Tag Q4_21_rating tag was added to gene: NSD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hyperinsulinism v2.8 | NSD1 | Ivone Leong Classified gene: NSD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hyperinsulinism v2.8 | NSD1 | 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 (Definitive). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hyperinsulinism v2.8 | NSD1 | Ivone Leong Gene: nsd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hyperinsulinism v2.1 | NSD1 |
Zornitza Stark gene: NSD1 was added gene: NSD1 was added to Congenital hyperinsulinism. Sources: Expert list Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NSD1 were set to 30719864 Phenotypes for gene: NSD1 were set to Sotos syndrome (OMIM#117550) Review for gene: NSD1 was set to GREEN gene: NSD1 was marked as current diagnostic Added comment: Hyperinsulinism is a documented feature of this syndrome: at least 9 individuals with NSD1 variants and hyperinsulinism reported; persistent in 3/9/ Sources: Expert list |
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