Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Pituitary hormone deficiency v0.71 | PNPLA6 | Ivone Leong commented on gene: PNPLA6: 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 | PNPLA6 | Ivone Leong Marked gene: PNPLA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.65 | PNPLA6 | Ivone Leong Gene: pnpla6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.41 | PNPLA6 | Ivone Leong Classified gene: PNPLA6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.41 | PNPLA6 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green. PNPLA6 is confirmed to be associated with the listed phenotypes in OMIM but not Gene2Phenotype. It is a green gene in IUGR and IGF abnormalities panel (Version 1.25). There are 3 unrelated cases of patients diagnosed with Boucher-Neuhauser or Gordon Holmes syndromes who have LOF variants in PNPLA6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.41 | PNPLA6 | Ivone Leong Gene: pnpla6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.40 | PNPLA6 | Ivone Leong Phenotypes for gene: PNPLA6 were changed from Spastic paraplegia 39, autosomal recessive (612020) to Boucher-Neuhauser syndrome (215470); Oliver-McFarlane syndrome (275400); Spastic paraplegia 39, autosomal recessive (612020) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.39 | PNPLA6 | Ivone Leong Publications for gene: PNPLA6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.5 | PNPLA6 |
Ivone Leong gene: PNPLA6 was added gene: PNPLA6 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive (612020) |