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Growth failure in early childhood v2.33 | STAT5B |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: STAT5B. Tag Q1_23_expert_review was removed from gene: STAT5B. |
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Growth failure in early childhood v2.33 | STAT5B | Catherine Snow commented on gene: STAT5B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.32 | STAT5B |
Catherine Snow Source Expert Review Green was added to STAT5B. Source NHS GMS was added to STAT5B. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Growth failure in early childhood v2.9 | STAT5B | Arina Puzriakova changed review comment from: There is sufficient evidence linking biallelic variants in this gene with growth hormone insensitivity resulting in severe short stature (MIM# 245590 and 618985). However, the Endocrine Specialist Group previously determined (2019) that the phenotype was not within the scope of this panel and therefore the decision was made to classify it as Red. Given this gene has recently been proposed for this panel by an expert, I am recommending that the Test Evaluation Working Group review and define the panel scope, and reach consensus as to whether this gene is appropriate for inclusion.; to: There is sufficient evidence linking both monoallelic and biallelic variants in this gene with growth hormone insensitivity resulting in severe short stature (MIM# 245590 and 618985). However, the Endocrine Specialist Group previously determined (2019) that the phenotype was not within the scope of this panel and therefore the decision was made to classify it as Red. Given this gene has recently been proposed for this panel by an expert, I am recommending that the Test Evaluation Working Group review and define the panel scope, and reach consensus as to whether this gene is appropriate for inclusion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.9 | STAT5B | Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: STAT5B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.9 | STAT5B | Arina Puzriakova commented on gene: STAT5B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.9 | STAT5B | Arina Puzriakova Publications for gene: STAT5B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.8 | STAT5B | Arina Puzriakova Mode of inheritance for gene: STAT5B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.7 | STAT5B | Arina Puzriakova Phenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590; Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.6 | STAT5B | Arina Puzriakova Tag Q1_23_expert_review tag was added to gene: STAT5B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.5 | STAT5B | Eleanor Williams reviewed gene: STAT5B: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | STAT5B | Rebecca Foulger reviewed gene: STAT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.22 | STAT5B |
Rebecca Foulger Source Expert Review Red was added to STAT5B. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.1 | STAT5B |
Ellen McDonagh gene: STAT5B was added gene: STAT5B was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal |