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Clefting v5.3 | SMARCA4 | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: SMARCA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v5.3 | SMARCA4 | Sarah Leigh reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v5.2 | SMARCA4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCA4. Source NHS GMS was added to SMARCA4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Clefting v4.45 | SMARCA4 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SMARCA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.45 | SMARCA4 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.45 | SMARCA4 | Achchuthan Shanmugasundram Classified gene: SMARCA4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.45 | SMARCA4 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated cases with cleft plate and one case each with submucous cleft palate and bifid uvula. This gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.45 | SMARCA4 | Achchuthan Shanmugasundram Gene: smarca4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.44 | SMARCA4 | Achchuthan Shanmugasundram Classified gene: SMARCA4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.44 | SMARCA4 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated cases with cleft plate and one case each with submucous cleft palate and bifid uvula. This gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.44 | SMARCA4 | Achchuthan Shanmugasundram Gene: smarca4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v4.43 | SMARCA4 |
Achchuthan Shanmugasundram gene: SMARCA4 was added gene: SMARCA4 was added to Clefting. Sources: Literature Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCA4 were set to 25168959; 37010288 Phenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4, OMIM:614609 Review for gene: SMARCA4 was set to GREEN Added comment: PMID:25168959 - 4 of 12 patients with variants in SMARCA4 had cleft palate and another patient had submucous cleft palate. DECIPHER database - One of 22 patients with heterozygous sequence variants had cleft palate and another patient had bifid uvula (PMID:37010288) Sources: Literature |