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| Clefting disorders v0.226 | ZC4H2 | Zornitza Stark Marked gene: ZC4H2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.226 | ZC4H2 | Zornitza Stark Gene: zc4h2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.226 | ZC4H2 | Zornitza Stark Classified gene: ZC4H2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.226 | ZC4H2 | Zornitza Stark Gene: zc4h2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.225 | ZC4H2 |
Zornitza Stark gene: ZC4H2 was added gene: ZC4H2 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: ZC4H2 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: ZC4H2 were set to 31206972; 37010288 Phenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, MIM# 314580 Review for gene: ZC4H2 was set to GREEN Added comment: There are ten unrelated patients reported with cleft palate. PMID:31206972 - Of 42 families identified with de novo and inherited variants in ZC4H2 gene, eight patients had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database) DECIPHER database - Of 13 patients with sequence variants, three patients had cleft palate. Cleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM. Sources: Expert Review |
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