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| Pituitary hormone deficiency v2.11 | PSTPIP1 | Arina Puzriakova Phenotypes for gene: PSTPIP1 were changed from Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416); Holoprosencephaly to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.54 | PSTPIP1 | Ivone Leong Classified gene: PSTPIP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.54 | PSTPIP1 | Ivone Leong Added comment: Comment on list classification: Demoted from amber to red as no evidence of variants in PSTPAP1 associated with Holoprosencephaly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.54 | PSTPIP1 | Ivone Leong Gene: pstpip1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.7 | PSTPIP1 |
Ivone Leong gene: PSTPIP1 was added gene: PSTPIP1 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416); Holoprosencephaly |
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