Brain Calcification
Gene: RAB39BEnsemblGeneIds (GRCh38): ENSG00000155961
EnsemblGeneIds (GRCh37): ENSG00000155961
OMIM: 300774, Gene2Phenotype
RAB39B is in 8 panels
1 review
Yetong Chen (University of Melbourne)
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 listCreated: 24 Apr 2023, 5:09 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual developmental disorder, X-linked 72, MIM# 300271
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Phenotypes
-
- Intellectual developmental disorder, X-linked 72, MIM# 300271
- OMIM
- 300774
- Clinvar variants
- Variants in RAB39B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rab39b has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rab39b has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)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