| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Pituitary hormone deficiency v3.12 | GLI3 | Arina Puzriakova Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510) to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.71 | GLI3 | Ivone Leong commented on gene: GLI3: 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 | GLI3 | Ivone Leong Marked gene: GLI3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.65 | GLI3 | Ivone Leong Gene: gli3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.23 | GLI3 | Ivone Leong Classified gene: GLI3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.23 | GLI3 | Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. GLI3 is confirmed to be associated with Pallister Hall syndrome in OMIM and Gene2Phenotype. It is also a green gene in the IUGR and IGF abnormalities panel (Version 1.25). There are >3 unrelated cases of patients with Pallister Hall syndrome with growth hormone deficiency who have variants in the GLI3 gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.23 | GLI3 | Ivone Leong Gene: gli3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.22 | GLI3 | Ivone Leong Publications for gene: GLI3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.5 | GLI3 |
Ivone Leong gene: GLI3 was added gene: GLI3 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||