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| Growth failure in early childhood v2.33 | BTK |
Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: BTK. Tag Q4_21_rating was removed from gene: BTK. Tag Q4_21_phenotype was removed from gene: BTK. |
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| Growth failure in early childhood v2.33 | BTK | Catherine Snow commented on gene: BTK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.110 | BTK | Eleanor Williams Tag Q4_21_rating tag was added to gene: BTK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.92 | BTK | Ivone Leong Tag Q4_21_expert_review tag was added to gene: BTK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.92 | BTK | Ivone Leong Tag Q4_21_phenotype tag was added to gene: BTK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.92 | BTK | Ivone Leong Classified gene: BTK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.92 | BTK |
Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. BTK is confirmed to be associated with isolated growth hormone deficiency in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of patients diagnosed with growth hormone deficiency who have variants in BTK. There is enough evidence to support a gene-disease association. This gene is also Green on the Pituitary hormone deficiency (ID: 483, version 2.7). This gene has been tagged for review by the GMS specialist group to determine whether this gene is appropriate for this panel. |
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| Growth failure in early childhood v1.92 | BTK | Ivone Leong Gene: btk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.91 | BTK | Ivone Leong Mode of inheritance for gene: BTK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.81 | BTK | Ivone Leong Phenotypes for gene: BTK were changed from to Isolated growth hormone deficiency, type III, with agammaglobulinaemia, OMIM:307200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.80 | BTK | Ivone Leong Publications for gene: BTK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.71 | BTK | Zornitza Stark reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8013627, 7849697, 9554752; Phenotypes: Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.1 | BTK |
Ellen McDonagh gene: BTK was added gene: BTK was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: BTK was set to Unknown |
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