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| Adrenal insufficiency v0.62 | PROP1 |
Chirag Patel changed review comment from: Well-established gene-disease association; Over 30 unrelated families with homozygous/ compound heterozygous (small deletions, frameshift, insertions, missense, nonsense and splice) PROP1 variants. The majority of patients present with complete absence of puberty, dwarfism and low GH, PRL, TSH, LH, and FSH associated with severe hypoplasia of the pituitary gland. Most affected individuals are ascertained due to growth failure (early childhood) and failure to thrive starting in infancy.; to: Well-established gene-disease association; Over 30 unrelated families with homozygous/ compound heterozygous (small deletions, frameshift, insertions, missense, nonsense and splice) PROP1 variants. The majority of patients present with complete absence of puberty, dwarfism and low GH, PRL, TSH, LH, and FSH associated with severe hypoplasia of the pituitary gland. Most affected individuals are ascertained due to growth failure (early childhood) and failure to thrive starting in infancy. 10 individuals developed progressive ACTH deficiency around mid 20s. |
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| Adrenal insufficiency v0.56 | STAR | Chirag Patel Marked gene: STAR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.56 | STAR | Chirag Patel Gene: star has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.12 | Chirag Patel Copied gene STAR from panel Congenital adrenal hyperplasia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.12 | STAR |
Chirag Patel gene: STAR was added gene: STAR was added to Adrenal insufficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAR were set to 7892608; 8634702 Phenotypes for gene: STAR were set to Lipoid adrenal hyperplasia (MIM#201710) |
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