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| DDG2P v3.12 | SMS | Achchuthan Shanmugasundram reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19206178, 5823961, 18550699; Phenotypes: SNYDER-ROBINSON SYNDROME, OMIM:309583; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SMS |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMS. Publications for gene: SMS were updated from 19206178; 18550699; 5823961 to 19206178; 5823961; 18550699 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.6 | AMOTL1 |
Irina Ziravecka edited their review of gene: AMOTL1: Added comment: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region. 5 out of 16 patients in this cohort have developmental delay.; Changed phenotypes to: orofacial clefting, cardiac anomalies, tall stature, distinct dysmorphisms (abnormal head shape, craniosynostosis, hypertelorism, and large ears), myopia, hearing loss, micrognathia, immune dysfunction, scoliosis, chronic constipation, liver dysfunction, global developmental delay |
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| DDG2P v0.2 | SMS | Rebecca Foulger reviewed gene: SMS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SMS |
Rebecca Foulger gene: SMS was added gene: SMS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SMS were set to 19206178; 18550699; 5823961 Phenotypes for gene: SMS were set to SNYDER-ROBINSON SYNDROME 309583 |
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