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| Repeat Disorders v0.123 | PHPX | Zornitza Stark Tag paediatric-onset tag was added to STR: PHPX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.42 | PHPX | Bryony Thompson Marked STR: PHPX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.42 | PHPX | Bryony Thompson Str: phpx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.42 | PHPX | Bryony Thompson Classified STR: PHPX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.42 | PHPX | Bryony Thompson Str: phpx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.41 | PHPX |
Bryony Thompson STR: PHPX was added STR: PHPX was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: PHPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: PHPX were set to 12428212; 15800844; 33811808; 23505376; 19654509 Phenotypes for STR: PHPX were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000 Review for STR: PHPX was set to GREEN STR: PHPX was marked as clinically relevant Added comment: NM_005634.2:c.700_702[X] Sufficient evidence for an association with growth hormone deficiency, however limited evidence for intellectual disability. ID and growth hormone deficiency identified in a single family with 26 Ala repeats (11 Ala expansion). 22 Ala repeats (7 Ala expansion) has been identified in two families with hypopituitarism (without ID). Mouse model demonstrates that mechanism of disease is polyAlanine tract leading to a loss of function of the protein, Sources: Expert list |
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