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| Arthrogryposis v0.662 | NKAP | Zornitza Stark Marked gene: NKAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.662 | NKAP | Zornitza Stark Gene: nkap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.662 | NKAP | Zornitza Stark Classified gene: NKAP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.662 | NKAP | Zornitza Stark Gene: nkap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.661 | NKAP |
Zornitza Stark gene: NKAP was added gene: NKAP was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: NKAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NKAP were set to 31587868 Phenotypes for gene: NKAP were set to Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type, MIM# 301039 Review for gene: NKAP was set to GREEN Added comment: PMID 31587868 reports 10 individuals from 8 unrelated families with X-linked recessive missense NKAP variants presenting with developmental delay/intellectual disability, hypotonia, joint contractures, Marfanoid habitus, scoliosis, tall stature and behavioral abnormalities. The NKAP variants are clustered in the C-terminal region where NKAP interacts with HDAC3 and post-catalytic spliceosomal complex proteins. Consistent with a role for the C-terminal region of NKAP in embryogenesis, nkap mutant zebrafish with a C-terminally truncated NKAP demonstrate severe developmental defects. Sources: Literature |
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