| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pituitary hormone deficiency v0.8 | CDON | Zornitza Stark Marked gene: CDON as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.8 | CDON | Zornitza Stark Gene: cdon has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.8 | CDON | Zornitza Stark Publications for gene: CDON were set to 21802063; 26529631 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.7 | CDON | Zornitza Stark reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.7 | CDON |
Elena Savva changed review comment from: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631) PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome. PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published. PMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary Summary: 3 patients; to: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631) PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome. PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published. PMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary Summary: 3 patients |
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| Pituitary hormone deficiency v0.7 | CDON |
Elena Savva changed review comment from: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631) PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome. PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published. PMID: 27974186: has anterior pituitary hypoplasia and ectopic posterior pituitary Summary: 3 patients; to: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631) PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome. PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published. PMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary Summary: 3 patients |
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| Pituitary hormone deficiency v0.7 | CDON | Elena Savva reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21802063, 29749693, 32729136, 33270637, 26529631, 27974186; Phenotypes: Holoprosencephaly 11 MIM#614226; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.0 | CDON |
Seb Lunke gene: CDON was added gene: CDON was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDON were set to 21802063; 26529631 Phenotypes for gene: CDON were set to Holoprosencephaly 11 (614226) |
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