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| Congenital hypothyroidism v0.78 | Bryony Thompson Copied STR SOX3_PHPX_GCN from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.78 | SOX3_PHPX_GCN |
Bryony Thompson STR: SOX3_PHPX_GCN was added STR: SOX3_PHPX_GCN was added to Congenital hypothyroidism. Sources: Expert Review Green,Expert list paediatric-onset tags were added to STR: SOX3_PHPX_GCN. Mode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509 Phenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000 |
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| Congenital hypothyroidism v0.77 | SOX3 | Chirag Patel Classified gene: SOX3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.77 | SOX3 | Chirag Patel Gene: sox3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.76 | Chirag Patel Added reviews for gene SOX3 from panel Pituitary hormone deficiency | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.0 | SOX3 |
Zornitza Stark gene: SOX3 was added gene: SOX3 was added to Congenital hypothyroidism. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SOX3 were set to 15800844; 12428212; 26416826 (2015 review) Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked, MONDO:0010712; Panhypopituitarism, X-linked, OMIM:312000; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123 |
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