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| Pituitary hormone deficiency v0.71 | GHSR | Ivone Leong commented on gene: GHSR: 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 | GHSR | Ivone Leong Marked gene: GHSR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.65 | GHSR | Ivone Leong Gene: ghsr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.60 | GHSR | Ivone Leong Classified gene: GHSR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.60 | GHSR | Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. GHSR is confirmed to be associated with isolated partial growth hormone deficiency in OMIM but no phenotypes are listed in Gene2Phenotype. There are 3 unrelated cases of patients with growth hormone deficiency who have variants in the GHSR gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.60 | GHSR | Ivone Leong Gene: ghsr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.59 | GHSR | Ivone Leong Publications for gene: GHSR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.7 | GHSR |
Ivone Leong gene: GHSR was added gene: GHSR was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GHSR were set to Growth hormone deficiency, isolated partial (615925) |
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