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Prepair 1000+

Gene: RBM10

Green List (high evidence)
RBM10 (RNA binding motif protein 10)
EnsemblGeneIds (GRCh38): ENSG00000182872
EnsemblGeneIds (GRCh37): ENSG00000182872
OMIM: 300080, Gene2Phenotype
RBM10 is in 11 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

The classic features of TARP syndrome are talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava. Not all patients have all classic features. Some patients have the additional features of central nervous system dysfunction, renal abnormalities, variable cardiac anomalies including hypertrophic obstructive cardiomyopathy, and variable distal limb defects including syndactyly. Most patients die in late prenatal or early postnatal stages, although evidence of an individual living >10 years (PMID: 30189253). 15 unrelated families reported.
Created: 25 Sep 2024, 10:54 a.m. | Last Modified: 25 Sep 2024, 10:54 a.m.
Panel Version: 1.322

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

Phenotypes
TARP syndrome MIM#311900

Publications

Created: 25 Sep 2024, 10:54 a.m.
Last Modified: 25 Sep 2024, 10:54 a.m.
Panel version: 1.322

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • TARP syndrome, 311900 (3)
OMIM
300080
Clinvar variants
Variants in RBM10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: rbm10 has been classified as Green List (High Evidence).

26 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: RBM10 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RBM10 was added gene: RBM10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RBM10 were set to TARP syndrome, 311900 (3)