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| Clefting disorders v0.201 | CHD4 | Zornitza Stark Marked gene: CHD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.201 | CHD4 | Zornitza Stark Gene: chd4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.201 | CHD4 | Zornitza Stark Classified gene: CHD4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.201 | CHD4 | Zornitza Stark Gene: chd4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.200 | CHD4 |
Zornitza Stark gene: CHD4 was added gene: CHD4 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD4 were set to 31388190; 37010288 Phenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome, MIM 617159 Review for gene: CHD4 was set to AMBER Added comment: Although there are four unrelated cases presenting with either cleft palate and/or bifid uvula, this phenotype is not consistent among patients identified with monoallelic variants in CHD4 gene. PMID:31388190 reported 32 patients with heterozygous variants in CHD4 gene, of which one individual (p.Gln715Ter) had cleft palate and Pierre Robin sequence. In addition, another individual identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula. In addition, 2 out of 10 individuals with pathogenic/ likely pathogenic heterozygous variants from the DDD study were reported with cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288). Sources: Expert Review |
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