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| Clefting v5.3 | STAG2 | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: STAG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v5.3 | STAG2 | Sarah Leigh reviewed gene: STAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v5.2 | STAG2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to STAG2. Source NHS GMS was added to STAG2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Clefting v4.47 | STAG2 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are ten cases identified with cleft lip/ palate, cleft soft palate or submucous cleft soft palate. Hence, this gene can be promoted to green rating at the next GMS review.; to: Comment on list classification: There are eight unrelated cases identified with cleft lip/ palate and two cases were identified with cleft soft palate or submucous cleft soft palate. Hence, this gene should be promoted to green rating at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.47 | STAG2 | Achchuthan Shanmugasundram Classified gene: STAG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.47 | STAG2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are ten cases identified with cleft lip/ palate, cleft soft palate or submucous cleft soft palate. Hence, this gene can be promoted to green rating at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.47 | STAG2 | Achchuthan Shanmugasundram Gene: stag2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.46 | STAG2 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: STAG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.46 | STAG2 |
Achchuthan Shanmugasundram gene: STAG2 was added gene: STAG2 was added to Clefting. Sources: Literature Mode of inheritance for gene: STAG2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: STAG2 were set to 28296084; 29263825; 30158690; 31334757; 33014403; 37010288 Phenotypes for gene: STAG2 were set to Holoprosencephaly 13, X-linked, OMIM:301043; Mullegama-Klein-Martinez syndrome, OMIM:301022 Review for gene: STAG2 was set to GREEN Added comment: PMID:33014403 - Two female patients identified with de novo variants in STAG2. One had cleft lip/ palate and other had cleft palate. In addition, five additional cases with cleft lip/ palate were also reported from literature review in this publication. DECIPHER database - Of ten patients with sequence variants in STAG2 gene, one each was identified with cleft palate, cleft soft palate and submucous cleft soft palate (PMID:37010288). Sources: Literature |
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