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Mendeliome

Gene: RBMX

Amber List (moderate evidence)

RBMX (RNA binding motif protein, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000147274
EnsemblGeneIds (GRCh37): ENSG00000147274
OMIM: 300199, Gene2Phenotype
RBMX is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID 37277488: In-frame deletion reported in a large multiplex Swedish family
Created: 30 Jan 2024, 9:05 p.m. | Last Modified: 30 Jan 2024, 9:05 p.m.
Panel Version: 1.1497
Hemizygous truncating variant reported segregating in multiple affected individuals in a single family. Some supportive functional data.
Sources: Expert Review
Created: 30 Mar 2022, 12:30 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238; Gustavson syndrome, MIM# 309555

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238
  • Gustavson syndrome, MIM# 309555
OMIM
300199
Clinvar variants
Variants in RBMX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RBMX were changed from Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238; Gustavson syndrome, MIM# 309555

30 Jan 2024, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RBMX were set to 25256757; 34260915

30 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbmx has been classified as Amber List (Moderate Evidence).

30 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbmx has been classified as Amber List (Moderate Evidence).

30 Mar 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RBMX was added gene: RBMX was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: RBMX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RBMX were set to 25256757; 34260915 Phenotypes for gene: RBMX were set to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 Review for gene: RBMX was set to AMBER