Pituitary hormone deficiencyGene: 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.
Created: 29 Jan 2019, noon
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.
Created: 10 Dec 2018, 12:25 p.m.
Ivone Leong: Comment on publications: BTK i
Gene: btk has been classified as Green List (High Evidence).
Publications for gene: BTK were set to
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)