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| Additional findings_Adult v1.78 | ITGA2B |
Zornitza Stark gene: ITGA2B was added gene: ITGA2B was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: ITGA2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA2B were set to Glanzmann thrombasthaenia 1, MIM# 273800 Review for gene: ITGA2B was set to GREEN Added comment: STRONG actionability by ClinGen. GT is a moderate to severe haemorrhagic disorder characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma or surgical procedures due to defective platelet aggregation. Purpura, easy bruising, epistaxis, gingival bleeding and menorrhagia are the most common clinical features. Presentation is typically in infancy but severity can be variable. A range of treatments available depending on severity as guided by specialist haematological services. Sources: Expert list |
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| Additional findings_Adult v1.26 | CDKN1B |
Zornitza Stark gene: CDKN1B was added gene: CDKN1B was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755 Review for gene: CDKN1B was set to GREEN Added comment: MEN4 is a very rare hereditary cancer syndrome characterized by parathyroid adenoma/hyperplasia and pituitary adenomas (Cushing disease, prolactinoma, somatotroph, corticotroph, and nonfunctioning adenomas). Primary hyperparathyroidism (pHPT) as a uniglandular disease is the leading pathology. Less frequently, additional endocrine/neuroendocrine neoplasias have been reported, including gastroenteropancreatic neuroendocrine tumors (NETs) and Zollinger-Ellison syndrome, NETs of the cervix and lungs, papillary thyroid carcinoma, thymic tumors, and adrenal masses. Other reported rare manifestations include meningiomas, and cancers of the uterus, testes, breast, colon, and kidneys. Presymptomatic surveillance recommendations for MEN4 have been suggested and are as follows: •Annual blood tests recommended for pHPT (calcium) and biochemical surveillance for secretory pituitary somatotroph adenomas (annual IGF-1), beginning in adolescence. •Endocrine surveillance is primarily clinical and should concentrate on evidence of growth hormone excess (gigantism/acromegaly) and glucocorticoid excess (Cushing syndrome), with concern for either prompting endocrine consultation. Sources: Expert list |
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| Additional findings_Adult v0.33 | GLA | Zornitza Stark Marked gene: GLA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.33 | GLA | Zornitza Stark Gene: gla has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.33 | GLA | Zornitza Stark Phenotypes for gene: GLA were changed from to Fabry disease, MIM# 301500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.32 | GLA | Zornitza Stark Mode of inheritance for gene: GLA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.31 | GLA | Zornitza Stark reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease, MIM# 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.0 | GLA |
Zornitza Stark gene: GLA was added gene: GLA was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: GLA was set to Unknown |
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