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| Skeletal dysplasia v2.100 | MYO18B |
Andžela Lazdāne gene: MYO18B was added gene: MYO18B was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO18B were set to PMID: 32637634 Phenotypes for gene: MYO18B were set to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism Penetrance for gene: MYO18B were set to Complete Review for gene: MYO18B was set to AMBER Added comment: Truncating mutations of MYO18B have been found to cause nemaline myopathy with cardiomyopathy or Klippel-Feil syndrome (KFS). Other KFS genes such as GDF3, GDF6, MEOX1, and RIPPLY2 are include in Skeletal dysplasia panel. KFS patients may have symptoms like spinal instability, disc degeneration, scoliosis, short neck, cleft palate, facial dysmorphism, and limb and hand abnormalities which may also be present in Skeletal dysplasia. Sources: Literature |
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| Skeletal dysplasia v1.153 | RIPPLY2 |
Eleanor Williams Added phenotypes Spondylocostal dysostosis 6 - 616566 for gene: RIPPLY2 Publications for gene RIPPLY2 were changed from to 26238661; 25343988 |
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| Skeletal dysplasia v1.147 | RIPPLY2 | Tracy Lester reviewed gene: RIPPLY2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26238661, 25343988; Phenotypes: Spondylocostal dysostosis 6 - 616566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | RIPPLY2 | Eleanor Williams reviewed gene: RIPPLY2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | RIPPLY2 |
Eleanor Williams gene: RIPPLY2 was added gene: RIPPLY2 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: RIPPLY2 was set to |
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