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| Stroke v1.23 | NOTCH2 | Zornitza Stark Marked gene: NOTCH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.23 | NOTCH2 | Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.23 | NOTCH2 | Zornitza Stark Classified gene: NOTCH2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.23 | NOTCH2 | Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.22 | NOTCH2 |
Zornitza Stark gene: NOTCH2 was added gene: NOTCH2 was added to Stroke. Sources: Expert Review Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2 were set to 30761079; 38400955; 25465847 Phenotypes for gene: NOTCH2 were set to Alagille syndrome 2 610205 Review for gene: NOTCH2 was set to GREEN Added comment: Multiple reports of vascular abnormalities and stroke in Alagille syndrome, can be difficult to diagnose clinically. Sources: Expert Review |
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| Stroke v0.94 | OTC | Zornitza Stark Marked gene: OTC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.94 | OTC | Zornitza Stark Gene: otc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.94 | OTC | Zornitza Stark Phenotypes for gene: OTC were changed from Ornithine carbamoyltransferase deficiency to Ornithine carbamoyltransferase deficiency, MIM# 311250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.93 | OTC | Zornitza Stark Publications for gene: OTC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.92 | OTC | Zornitza Stark Mode of inheritance for gene: OTC was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.91 | OTC | Zornitza Stark edited their review of gene: OTC: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.91 | OTC | Zornitza Stark reviewed gene: OTC: Rating: ; Mode of pathogenicity: None; Publications: 32008222, 24850570, 23640148; Phenotypes: Ornithine transcarbamylase deficiency, MIM# 311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.55 | NOTCH3 | Zornitza Stark Marked gene: NOTCH3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.55 | NOTCH3 | Zornitza Stark Gene: notch3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.55 | NOTCH3 | Zornitza Stark Publications for gene: NOTCH3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.54 | NOTCH3 | Zornitza Stark reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31960911; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.0 | OTC |
Bryony Thompson gene: OTC was added gene: OTC was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OTC were set to Ornithine carbamoyltransferase deficiency |
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| Stroke v0.0 | NOTCH3 |
Bryony Thompson gene: NOTCH3 was added gene: NOTCH3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOTCH3 were set to Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) |
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