Activity
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12 actions
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| Pituitary hormone deficiency v4.2 | BTK | Achchuthan Shanmugasundram Phenotypes for gene: BTK were changed from Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200) to Isolated growth hormone deficiency, type III, with agammaglobulinemia, OMIM:307200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v4.1 | BTK | Ida Ertmanska Tag disputed tag was added to gene: BTK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v4.1 | BTK | Ida Ertmanska Tag Q4_25_demote_red tag was added to gene: BTK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v4.1 | BTK | Ida Ertmanska edited their review of gene: BTK: Changed publications to: 7849697, 8013627, 1880652; Changed phenotypes to: Isolated growth hormone deficiency, type III, with agammaglobulinemia, OMIM:307200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v4.1 | BTK | Ida Ertmanska commented on gene: BTK: Comment on list classification: There has been no experimental evidence and no further cases reported in literature linking BTK to Pituitary hormone deficiency since 1994. The association has been disputed by the ClinGen Antibody Deficiencies GCEP. Thus, this gene should be demoted to Red on the Pituitary hormone deficiency panel at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v4.1 | BTK | Ida Ertmanska reviewed gene: BTK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.71 | BTK | Ivone Leong commented on gene: BTK: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.65 | BTK | Ivone Leong Marked gene: BTK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.65 | BTK | Ivone Leong Gene: btk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.9 | BTK | Ivone Leong Added comment: Comment on publications: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.9 | BTK | Ivone Leong Publications for gene: BTK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.7 | BTK |
Ivone Leong gene: BTK was added gene: BTK was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BTK were set to Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200) |
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