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| Growth failure in early childhood v2.33 | NF1 |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: NF1. Tag Q1_23_expert_review was removed from gene: NF1. |
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| Growth failure in early childhood v2.33 | NF1 | Catherine Snow commented on gene: NF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.19 | NF1 | Arina Puzriakova Publications for gene: NF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.18 | NF1 | Arina Puzriakova Phenotypes for gene: NF1 were changed from to Neurofibromatosis-Noonan syndrome, OMIM:601321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.17 | NF1 |
Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: NF1. Tag Q1_23_expert_review tag was added to gene: NF1. |
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| Growth failure in early childhood v2.17 | NF1 | Arina Puzriakova Classified gene: NF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.17 | NF1 | Arina Puzriakova Added comment: Comment on list classification: Short stature is a variable feature of NF1-related Noonan syndrome but >3 unrelated individuals have been reported with height at least 3 SDS below the mean. Although from the literature it was not clear whether this degree of severity can be reached within the first two years of life. Therefore, flagging for GMS expert review by the Endocrine Specialist Group to reach consensus as to whether this gene is appropriate for inclusion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.17 | NF1 | Arina Puzriakova Gene: nf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.16 | NF1 | Arina Puzriakova Mode of inheritance for gene: NF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.5 | NF1 | Eleanor Williams reviewed gene: NF1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.4 | NF1 |
Eleanor Williams gene: NF1 was added gene: NF1 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: NF1 was set to |
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