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| Adrenal insufficiency v0.62 | PROP1 | Chirag Patel Marked gene: PROP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.62 | PROP1 | Chirag Patel Gene: prop1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.62 | Chirag Patel Copied gene PROP1 from panel Pituitary hormone deficiency | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.62 | PROP1 |
Chirag Patel gene: PROP1 was added gene: PROP1 was added to Adrenal insufficiency. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PROP1 were set to 20301521, 31090814 Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2 MIM# 262600 |
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