This Panel is marked as Internal
Coarse facial features including Coffin-Siris-like disorders
Gene: RBMX
RBMX (RNA binding motif protein, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000147274
EnsemblGeneIds (GRCh37): ENSG00000147274
OMIM: 300199, Gene2Phenotype
RBMX is in 0 panels
EnsemblGeneIds (GRCh38): ENSG00000147274
EnsemblGeneIds (GRCh37): ENSG00000147274
OMIM: 300199, Gene2Phenotype
RBMX is in 0 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Only reported in one familyCreated: 24 Nov 2016, 9:36 a.m.
Alice Gardham (North West Thames Genetics)
Mutations only found in one family and no functional/cell studies were performedCreated: 31 Jan 2016, 1:47 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Shashi X-linked mental retardation syndrome, 300238
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Phenotypes
-
- Shashi X-linke mental retardation
- OMIM
- 300199
- Clinvar variants
- Variants in RBMX
- Penetrance
- Complete
- Panels with this gene
-
History Filter Activity
24 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
14 Nov 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
29 Jan 2016, Gel status: 0
Added New Source
Alice Gardham (North West Thames Genetics)RBMX was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature
29 Jan 2016, Gel status: 0
Created
Alice Gardham (North West Thames Genetics)RBMX was created by alicegardham