| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.55 | RAB39B | Bryony Thompson Marked gene: RAB39B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.55 | RAB39B | Bryony Thompson Gene: rab39b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.55 | RAB39B | Bryony Thompson Classified gene: RAB39B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.55 | RAB39B | Bryony Thompson Gene: rab39b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | RAB39B |
Yetong Chen gene: RAB39B was added gene: RAB39B was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RAB39B were set to 27943471 Phenotypes for gene: RAB39B were set to Intellectual developmental disorder, X-linked 72, MIM# 300271 Review for gene: RAB39B was set to RED Added comment: Only one 2 cases from the same family are reported, insufficient evidence supports the causal role of the RAB39B gene in brain calcification. PMID 27943471 reports 2 patients (II-2 and III-1) from the same family harbouring a RAB39B variant (c.536dupA, p.E179fsX48) who developed brain calcification. Sources: Expert list |
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