| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pituitary hormone deficiency v1.0 | SOX3_PHPX_GCN | STR SOX3_PHPX_GCN: gene migrated from ENSG00000134595 to ENSG00000134595 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v1.0 | SOX3 | Gene migrated from ENSG00000134595 to ENSG00000134595 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.170 | Bryony Thompson Copied STR SOX3_PHPX_GCN from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.170 | SOX3_PHPX_GCN |
Bryony Thompson STR: SOX3_PHPX_GCN was added STR: SOX3_PHPX_GCN was added to Pituitary hormone deficiency. 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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| Pituitary hormone deficiency v0.53 | SOX3 | chirag patel reviewed gene: SOX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24346842, 15800844, 21289259; Phenotypes: Panhypopituitarism, X-linked (312000); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.53 | SOX3 | chirag patel Classified gene: SOX3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.53 | SOX3 | chirag patel Gene: sox3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.32 | SOX3 | Zornitza Stark Marked gene: SOX3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.32 | SOX3 | Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.32 | SOX3 | Zornitza Stark Classified gene: SOX3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.32 | SOX3 | Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.31 | SOX3 | Zornitza Stark Tag SV/CNV tag was added to gene: SOX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.31 | SOX3 | Zornitza Stark reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Panhypopituitarism, X-linked, MIM# 312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.0 | SOX3 |
Seb Lunke gene: SOX3 was added gene: SOX3 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green 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 24346842; 15800844; 21289259; 24737742 Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked (312000); Mental retardation, X-linked, with isolated growth hormone deficiency (300123) |
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