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| Prepair 1000+ v1.1596 | RAB39B |
Kate Scarff changed review comment from: Characterised by intellectual disability with additional clinical features ranging from ASD, macrocephaly, seizures and/or early-onset parkinsonism. One family had ~45kb deletion encompassing RAB39B gene and the last three coding exons of CLIC2 (PMID 25434005). Unsure if Waisman syndrome 311510 is a distinct phenotype that should be reported, causes ID and Parkinson's (some juvenile PD).; to: Intellectual developmental disorder, X-linked 72; Characterised by intellectual disability with additional clinical features ranging from ASD, macrocephaly, seizures and/or early-onset parkinsonism. One family had ~45kb deletion encompassing RAB39B gene and the last three coding exons of CLIC2 (PMID 25434005). Waisman syndrome: neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease (some juvenile PD). |
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| Prepair 1000+ v1.1596 | RAB39B | Kate Scarff edited their review of gene: RAB39B: Changed phenotypes: Intellectual developmental disorder, X-linked 72, MIM #300271, Waisman syndrome, MIM #311510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1188 | RAB39B | Zornitza Stark Marked gene: RAB39B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1188 | RAB39B | Zornitza Stark Gene: rab39b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1188 | RAB39B | Zornitza Stark Phenotypes for gene: RAB39B were changed from Mental retardation, X-linked 72, 300271 (3) to Intellectual developmental disorder, X-linked 72, MIM #300271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1187 | RAB39B | Zornitza Stark Publications for gene: RAB39B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.978 | RAB39B | Kate Scarff reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25434005, 34761259, 29152164, 20159109; Phenotypes: Intellectual developmental disorder, X-linked 72, MIM #300271; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | RAB39B |
Zornitza Stark gene: RAB39B was added gene: RAB39B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RAB39B were set to Mental retardation, X-linked 72, 300271 (3) |
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