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| Chromosome Breakage Disorders v0.170 | HELLS | Zornitza Stark Marked gene: HELLS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v0.170 | HELLS | Zornitza Stark Gene: hells has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v0.170 | HELLS | Zornitza Stark Classified gene: HELLS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v0.170 | HELLS | Zornitza Stark Gene: hells has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v0.169 | HELLS |
Zornitza Stark gene: HELLS was added gene: HELLS was added to Chromosome Breakage Disorders. Sources: Expert Review Mode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HELLS were set to 26216346 Phenotypes for gene: HELLS were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911; MONDO:0014829 Review for gene: HELLS was set to GREEN Added comment: Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable. At least 4 unrelated families reported. Sources: Expert Review |
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