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| Clefting v4.33 | MED13L |
Achchuthan Shanmugasundram changed review comment from: PMID:25137640 - Cleft palate was present in the patient reported with intellectual disability and dysmorphic facial features. PMID:25712080 - Cleft palate was reported in a single case (patient 1) of MED13L haploinsufficiency. PMID:29159987 - One of the two patients reported with de novo variants had repaired posterior cleft palate and the other had only high palate. PMID:29511999 - One of 36 patients with monoallelic variants had posterior cleft palate. DECIPHER database - Of 72 patients reported with heterozygous sequence variants, cleft palate was reported in two patients, cleft soft palate in one and submucous cleft hard palate in one patient (PMID:37010288).; to: Although there are more than three cases reported with clefting, this feature is not consistently found in patients with monoallelic variants in MED13L gene. PMID:25137640 - Cleft palate was present in the patient reported with intellectual disability and dysmorphic facial features. PMID:25712080 - Cleft palate was reported in a single case (patient 1) of MED13L haploinsufficiency. PMID:29159987 - One of the two patients reported with de novo variants had repaired posterior cleft palate and the other had only high palate. PMID:29511999 - One of 36 patients with monoallelic variants had posterior cleft palate. DECIPHER database - Of 72 patients reported with heterozygous sequence variants, cleft palate was reported in two patients, cleft soft palate in one and submucous cleft hard palate in one patient (PMID:37010288). |
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| Clefting v4.33 | MED13L | Achchuthan Shanmugasundram Publications for gene: MED13L were set to 25137640; 25712080; 29159987; 29511999; 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.33 | MED13L | Achchuthan Shanmugasundram Publications for gene: MED13L were set to 25137640; 25712080; 29159987; 29511999; 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.33 | MED13L | Achchuthan Shanmugasundram Publications for gene: MED13L were set to 25137640; 25712080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.32 | MED13L |
Achchuthan Shanmugasundram changed review comment from: PMID:25137640 - Cleft palate was present in the patient reported with intellectual disability and dysmorphic facial features. PMID:25712080 - Cleft palate was reported in a single case (patient 1) of MED13L haploinsufficiency. PMID:29159987 - One of the two patients reported with de novo variants had repaired posterior cleft palate and the other had only high palate. PMID:29511999 - One of 36 patients with monoallelic variants had posterior cleft palate. DECIPHER database - Of 72 patients reported with heterozygous sequence variants, cleft palate was reported in two patients, cleft soft palate in one and submucous cleft hard palate in one patient.; to: PMID:25137640 - Cleft palate was present in the patient reported with intellectual disability and dysmorphic facial features. PMID:25712080 - Cleft palate was reported in a single case (patient 1) of MED13L haploinsufficiency. PMID:29159987 - One of the two patients reported with de novo variants had repaired posterior cleft palate and the other had only high palate. PMID:29511999 - One of 36 patients with monoallelic variants had posterior cleft palate. DECIPHER database - Of 72 patients reported with heterozygous sequence variants, cleft palate was reported in two patients, cleft soft palate in one and submucous cleft hard palate in one patient (PMID:37010288). |
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| Clefting v4.32 | MED13L | Achchuthan Shanmugasundram edited their review of gene: MED13L: Changed publications to: 25137640, 25712080, 29159987, 29511999, 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.32 | MED13L | Achchuthan Shanmugasundram reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: None; Publications: 25712080, 29159987, 29511999; Phenotypes: Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v2.70 | MED13L | Arina Puzriakova Phenotypes for gene: MED13L were changed from Mental retardation and distinctive facial features with or without cardiac defects, 616789; MRFACD; Cleft palate to Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789; MRFACD; Cleft palate | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting | MED13L | Rebecca Foulger reviewed MED13L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||